Women's health and reproductive health

Question 1

Does testosterone therapy provide protection against pregnancy in a trans man (with uterus)?

Answer 1

no. Testosterone therapy does not provide protection against pregnancy and if the patient becomes pregnant, testosterone therapy is contraindicated as can have teratogenic effects.

Question 2

In patients who are trans men and undergoing testosterone therapy, what are the options for contraception?

Answer 2

permanent -
fallopian tube occlusion (hysterectomy and/or bilateral oophorectomy as part of sex-change therapy also prevents pregnancy)

temporary -
Progesterone only contraceptives are not considered to have any detrimental effect on testosterone therapy and the intrauterine system and injections may also suspend menstruation.
Non-hormonal intrauterine devices do not interact with hormonal regimes but can exacerbate menstrual bleeding, which may be unacceptable to patients.

emergency contraception - levonorgestrel and ulipristal acetate and non-hormonal IUD may be considered

Question 3

In patients who are trans men and undergoing testosterone therapy, what is NOT recommended as an option for contraception?

Answer 3

Regimes containing oestrogen are not recommended in patients undergoing testosterone therapy as can antagonize the effect of testosterone therapy.

Question 4

In patients assigned male at birth, what should be recommended as reliable contraception?

Answer 4

Condoms should be recommended in those patients assigned male at birth engaging in vaginal sex wishing to avoid the risk of pregnancy.

Question 5

what are the risk factors T gondii infection (toxoplasmosis)

Answer 5

eating raw or undercooked pork, mutton, lamb, beef, ground meat products, oysters, clams, or mussels and wild game meat, kitten ownership, cleaning the cat litter box, contact with soil (gardening and yard work), and eating raw unwashed vegetables or fruits

Question 6

describe blood loss in an average menstrual cycle and define menorrhagia

Answer 6

The average menstrual cycle has a blood loss for seven days of a cycle of between 21 and 35 days. The usual shorthand for this is: K = 7/21-35.

Menorrhagia is menstrual blood loss which interferes with a woman’s physical, emotional, social and material quality of life, and which can occur alone or in combination with other symptoms.

Question 7

what is dysfunctional uterine bleeding (DUB)?

Answer 7

Dysfunctional uterine bleeding (DUB) - abnormal uterine bleeding without any obvious structural or systemic pathology. It usually presents as menorrhagia. The diagnosis of DUB can only be made once all other causes for abnormal, or heavy, uterine bleeding have been excluded.

Question 8

epidimiology of menorrhagia

Answer 8

peaks in women aged 30-49
DUB is more common around the menarche and perimenopause.

Question 9

aetiology of menorrhagia

Answer 9

• anovulatory cycles most common at the extremes of reproductive life
• local causes including: fibroids, endometrial polyps, endometriosis, adenomyosis, endometritis, PID, endometrial hyperplasia or carcinoma (classically in women aged over 50 and with postmenopausal bleeding).
• systemic diseases including: hypothyroidism, liver or kidney disease, obesity and bleeding disorders
• An IUCD () or anticoagulant treatment can increase menstrual flow.
• DUB

Question 10

possible presentations of someone with menorrhagia?

Answer 10

• if patient has to wear tampons and towels simultaneously, flow is heavy
• passage of clots represents heavy flow. Clots may be painful as they pass through the cervix
• other associated menstrual problems - for example, premenstrual syndrome, intermenstrual bleeding (IMB), postcoital bleeding (PCB), dyspareunia and pelvic pain
• symptoms of anaemia (SOB, fatigue, etc.)

Question 11

what to examine in someone presenting with menorrhagia?

Answer 11

general appearance and BMI
signs suggestive of endocrine abnormality (hirsutism, acne) or bruising
tongue for pallor and the nails for koilonychia
Examination of the abdomen and then pelvic examination (in some situations)
Where relevant, ascertain that the cervical smear is up to date.
Inspect the cervix and take swabs if clinically indicated.
Where indicated, perform a bimanual examination. Abnormalities may include a bulky or grossly enlarged uterus, fixation of the uterus or tenderness.

Question 12

Ix for menorrhagia?

Answer 12

FBC
TFT if clinical suspicion of underlying endocrine abnormality
assessment for bleeding disorder if clinical suspicioin
Consider ultrasound scan in women who have symptoms or signs suggestive of underlying pathology(An endometrial thickness of <12 mm is normal in pre-menopausal women).
outpatient hysteroscopy in patients suspected submucosal fibroids, polyps or endometrial pathology
endometrial biopsy if risk factors are present for endometrial cancer or hyperplasia

Question 13

Pharmacological management of menorrhagia

Answer 13

1st line - LNG-IUS-Mirena
2nd line - tranexamic acid or NSAIDs (eg mefanamic acid) or COC
3rd line - progestogens, either norethisterone tablets or injected long-acting progestogens such as medroxyprogesterone acetate (Depo-Provera®)

Question 14

Surgical options for menorrhagia?

Answer 14

• endometrial ablation
• uterine artery embolisation or hysteroscopic myomectomy
• Hysterectomy
  each have their own disadvantages and need serious consideration before decision is made

Question 15

Where do most breast cancers arise from?

Answer 15

either -
The epithelial lining of ducts and are called ductal.
From the epithelium of the terminal ducts of the lobules and are called lobular.

Question 16

what is hiv

Answer 16

HIV is an RNA retrovirus. HIV-1 is the most common type. HIV-2 is rare outside West Africa. The virus enters and destroys the CD4 T helper cells.

Question 17

what is the natural course/stages of HIV infection?

Answer 17

stage 1: acute primary infection (seroconversion illness)
Occurs between one and six weeks after infection. Common symptoms are a glandular fever-type illness with fever, malaise, myalgia, pharyngitis, headaches, diarrhoea, neuralgia or neuropathy, lymphadenopathy and/or a maculopapular rash. Acute infection may be asymptomatic.

stage 2: asymptomatic stage
After seroconversion, virus levels are low, although replication continues slowly.
CD4 and CD8 lymphocyte levels are normal. This situation may persist for many years.

Stage 3: symptomatic HIV infection
Nonspecific constitutional symptoms develop: fever, night sweats, diarrhoea, weight loss.
There may also be minor opportunistic infections - eg, oral candida, oral hairy leukoplakia, herpes zoster, recurrent herpes simplex, seborrhoeic dermatitis, tinea infections.
This collection of symptoms and signs is referred to as the AIDS-related complex (ARC) and is regarded as a prodrome to AIDS.

stage 4: AIDS
end-stage HIV infection where the CD4 count has dropped to a level that allows for unusual opportunistic infections and malignancies to appear.

Question 18

how is hiv transmitted?

Answer 18

1. Unprotected anal, vaginal or oral sexual activity.
2. vertical transmission - Mother to child at any stage of pregnancy, birth or breastfeeding.
3. Mucous membrane, blood or open wound exposure to infected blood or bodily fluids such as through sharing needles, needle-stick injuries or blood splashed in an eye.

Question 19

give some examples of AIDS defining illnesses

Answer 19

There is a long list of AIDS-defining illnesses. Some examples are:

Kaposi’s sarcoma
Pneumocystis jirovecii pneumonia (PCP)
Cytomegalovirus infection
Candidiasis (oesophageal or bronchial)
Lymphomas
Tuberculosis

Question 20

what test is typically used in the hospitals for screening for HIV? who should be screened for HIV? what consent is required for testing for HIV?

Answer 20

Antibody blood test.

HIV testing is recommended for -

• We should test practically everyone admitted to hospital with an infectious disease regardless of their risk factors.
• Patients with any risk factors should be tested (MSM and their female sexual partners, people who inject drugs (PWID), sex workers, prisoners, trans women and people from countries with high HIV seroprevalence and their sexual partners).
• ppl attending sexual health services, tuberculosis (TB), hepatitis and lymphoma clinics, antenatal clinics, termination of pregnancy services and addiction and substance misuse services.
• All people presenting with symptoms and/or signs consistent with an HIV indicator condition
• People accessing healthcare in areas with high (>2/1,000; if undergoing venepuncture) and extremely high (>5/1,000; all attendees) HIV seroprevalence.
• Sexual partners of an individual diagnosed with HIV.

Antibody tests can be negative for 3 months following exposure so repeat testing is necessary if an initial test is negative within 3 months of a potential exposure.

Patients need to give consent for a test. Verbal consent should be documented prior to a test. Consent only needs to be as simple as “are you happy for us to test you for HIV?”

Question 21

what are some ways of testing for HIV?

Answer 21

1. Antibody blood test.
2. Testing for the p24 antigen - This can give a positive result earlier in the infection compared with the antibody test
3. PCR testing for the HIV RNA levels tests directly for the quantity of the HIV virus in the blood and gives a viral load.

Question 22

what 2 things need to be monitored in someone with HIV?

Answer 22

1. CD4 count
   500-1200 cells/mm3 is the normal range
   Under 200 cells/mm3 is considered end stage HIV / AIDS and puts the patient at high risk of opportunistic infections
2. Viral load
   Viral load is the number of copies of HIV RNA per ml of blood. “Undetectable” refers to a viral load below the labs recordable range (usually 50 – 100 copies/ml).

Question 23

what is the management of HIV?

Answer 23

antiretroviral therapy (ART) irrespective of viral load or CD4 count.
BHIVA guidelines (2015) recommend a starting regime of 2 NRTIs (e.g. tenofovir and emtricitabine) plus a third agent.

The aim of treatment is to achieve a normal CD4 count and undetectable viral load. As a general rule when a patient has normal CD4 and undetectable VL on ART treat their physical health problems (e.g. routine chest infections) as you would an HIV -ve patient. When prescribing be aware and check interactions any medication might have with the HIV therapy.

additional management -

1. co-trimoxazole as prophylaxis against PCP in ppl with CD4 count <200/mm3. azithromycin as prophylaxis against MIA (mycobacterium avium-intracellulare) in pts with CD4 count< 50 cells/μL.
2. yearly cervical smears are required for women. HIV predisposes to developing cervical human papillomavirus (HPV) infection and cervical cancer.
3. CVD risk assessment and management as patients with HIV are at higher risk of CVD
4. Vaccinations should be up to date including annual influenza, pneumococcal (every 5-10 years), hepatitis A and B, tetanus, diphtheria and polio. Patients should avoid live vaccines (BCG, oral polio, oral typhoid, yellow fever).
5. psychosocial support if required

reproductive health advice -

1. Advise condoms for vaginal and anal sex and dams for oral sex even with when both partners are positive. If the viral load is undetectable then transmission through unprotected sex is unheard of in large studies but not impossible.
2. Where the affected partner has an undetectable viral load unprotected sex and pregnancy may be considered. It is also possible to conceive safely through techniques like sperm washing and IVF.
3. to avoid vertical transmission - ART, Caesarean section should be preferred. Newborns to HIV positive mothers should receive ART for 4 weeks after birth. Avoid Breastfeeding

Question 24

what are the different Highly Active Anti-Retrovirus Therapy (HAART) Medication Classes?

Answer 24

Protease Inhibitors (PIs)
Integrase Inhibitors (IIs)
Nucleoside Reverse Transcriptase Inhibitors (NRTIs)
Non-Nucleoside Reverse Transcriptase Inhibitors (NNRTIs)
Entry Inhibitors (EIs)

Question 25

what is the post-exposure management for HIV?

Answer 25

1. Post exposure prophylaxis can be used after exposure to HIV to reduce the risk of transmission. Must be commenced within a short period (less than 72 hours). The sooner it is started the better. It involves a combination of ART therapy. The current regime is Truvada (emtricitabine / tenofovir) and raltegravir for 28 days.
2. HIV tests should be done initially but also a minimum of 3 months after exposure to confirm a negative status.
3. Individuals should abstain from unprotected activity for a minimum of 3 months until confirmed negative.

Question 26

name some side effects of ART

Answer 26

risk of drug-induced liver injury
lipodystrophy syndrome which includes fat redistribution
insulin resistance
dyslipidaemia.

Question 27

what infections screening is offered in pregnancy?

Answer 27

HIV, syphillis, Hep B and rubella

Question 28

what is epididymo-orchitis?

Answer 28

Acute epididymo-orchitis is a clinical syndrome consisting of pain, swelling and inflammation of the epididymis, with or without inflammation of the testes.

Question 29

causes of epididymo-orchitis?

Answer 29

Escherichia coli (E. coli)
Chlamydia trachomatis
Neisseria gonorrhoea
Mumps

**Think of mumps in patients with parotid gland swelling and orchitis. Mumps tends only to affect the testicle, sparing the epididymis. It can also cause pancreatitis.

Question 30

presentation of epididymo-orchitis

Answer 30

development of the following over mintues-hours - (usually unilateral)

• testicular pain
• testicular and epididymal swelling
• urethral discharge (should make you consider chlamydia or gonorrhoea)
• dragging or heavy sensation in testis
• Tenderness on palpation, particularly over epididymis
• Systemic symptoms such as fever and potentially sepsis

Question 31

what is the main differential for epididymo orchitis that needs to be considered?

Answer 31

testicular torsion.

Both present similarly, with acute onset of pain in one testicle. If there is any doubt, treat it as testicular torsion until proven otherwise.

Question 32

what are the features in a history that make epididymo-orchitis to be more likely to be caused by an STI rather than an enteric organism?

Answer 32

• age below 35
• multiple sexual partners in the last year
• urethral discharge

Question 33

what investigations would you do in someone suspected to have epididymo-orchitis?

Answer 33

1. MC&S urine
2. NAAT testing for chlamydia and gonorrhoea on first pass urine
3. Charcoal swab of purulent urethral discharge for gonorrhoea culture and sensitivities
4. if mumps suspected - saliva swab PCR and Serum antibodies for mumps, if suspected (IgM – acute infection, IgG – previous infection or vaccination)
5. Gram-stained urethral smear
6. USS may be done to check/exclude tumours or torsion

Question 34

Complications of Epididymo-orchitis

Answer 34

chronic pain
chronic epididymitis
reactive hydrocoele
subfertility
Mumps epididymo-orchitis can lead to testicular atrophy
scrotal abscess

Question 35

Management of epididymo-orchitis

Answer 35

1. if very acutely unwell or spetic - require admission and IV abx
2. high risk of STI - urgent referral to GUM
3. Local guidelines guide the choice of antibiotic.
   - For patients that are at a low risk of STIs, a typical choice is ofloxacin (usually first-line) PO for 14 days
   - For epididymo-orchitis most probably due to any sexually transmitted pathogen: ceftriaxone intramuscularly single dose, plus doxycycline PO for 10-14 days.

Additional measures:

• Analgesia
• Supportive underwear
• Reduce physical activity
• Abstain from intercourse

Question 36

give some examples of quinolone abx and what they are used for? what are 2 important side effects of quinolones that are essential to inform patients about?

Answer 36

Quinolone antibiotics such as ofloxacin, levofloxacin and ciprofloxacin are powerful broad-spectrum antibiotics, often used for urinary tract infections, pyelonephritis, epididymo-orchitis and prostatitis. They give excellent gram-negative cover.

1. Tendon damage and tendon rupture, notably in the Achilles tendon
2. Lower seizure threshold

Question 37

chlamydia - what type of organism is it?

Answer 37

Chlamydia trachomatis is an intracellular gram-negative bacteria.

Question 38

what is the national chlamydia screening programme?

Answer 38

This program aims to screen every sexually active person under 25 years of age for chlamydia annually or when they change their sexual partner. Everyone that tests positive should have a re-test three months after treatment. This re-testing is to ensure they have not contracted chlamydia again, rather than to check the treatment has worked.

Question 39

two types of swabs involved in sexual health testing

Answer 39

1. charcoal swabs:
   - endocervical swabs and high vaginal swabs (HVS)
   - for microscopy, culture and sensitivities testing
   - candidiasis, BV, gonorroea (specidically endocervical), trichomonas vaginalis (specifically posterior fornix), other bacteria such as Group B strep.
2. nucleic acid amplification test (NAAT) swab
   - used to test specifically for chlamydia, gonorrhoea and Mycoplasma genitalium.
   - In women - NAAT can be performed on an endocervical swab, on vulvovaginal swab (a self-taken lower vaginal swab) or a first-catch urine sample. The order of preference is endocervical, vulvovaginal, and then urine.
   - In men, a NAAT test can be performed on a first-catch urine sample or a urethral swab. It is worth noting that the NAAT swabs will specify on the packet whether the swabs are for endocervical, vulvovaginal or urethral use. A specific kit is used for first-catch urine NATT testing.
   - Rectal and pharyngeal NAAT swabs can also be taken to diagnose chlamydia in the rectum and throat. Consider these swabs where anal or oral sex has occurred.

**Where gonorrhoea is suspected or demonstrated on a NAAT test, an endocervical charcoal swab is required for microscopy, culture and sensitivities.

Question 40

presentation of chlamydia

Answer 40

majority of cases of chlamydia in women are asymptomatic. 50% in men are asymptomatic.

consider in -
women who are sexually active with -
Abnormal vaginal discharge
Pelvic pain
Abnormal vaginal bleeding (intermenstrual or postcoital)
deep dyspareunia
fever
dysuria

men who are sexually active with -
Urethral discharge or discomfort
dysuria
Epididymo-orchitis
fever

in both sexes - 
Reactive arthritis (more common in males) (usually triad of urethritis, arthritis and conjunctivitis)
Upper abdominal pain due to perihepatitis (Fitz-Hugh Curtis syndrome)
proctitis with mucopurulent discharge
It is worth considering rectal chlamydia and lymphogranuloma venereum in patients presenting with anorectal symptoms, such as discomfort, discharge, bleeding and change in bowel habits.

Question 41

some examination findings possible in genital chlamydia

Answer 41

Pelvic or abdominal tenderness
Cervical motion tenderness (cervical excitation)
Inflamed cervix (cervicitis) or friable cervix
Purulent discharge

Question 42

diagnosis of chlamydia?

Answer 42

NAAT
In women, a vulvovaginal swab is now the specimen of choice
For men, the test of choice is a first catch urine specimen - they should not have passed urine for at least the previous hour, and then catch the first 20 ml of the sample for testing.

Question 43

First-line for uncomplicated chlamydia infection?

Answer 43

doxycycline PO

plus -
Abstain from sex for seven days of treatment of all partners to reduce the risk of re-infection
Refer all patients to genitourinary medicine (GUM) for contact tracing and notification of sexual partners
Test for and treat any other sexually transmitted infections
Provide advice about ways to prevent future infection
Consider safeguarding issues and sexual abuse in children and young people

Question 44

treating chlamydia in pregnant/breastfeeding women?

Answer 44

options include -
Azithromycin, erythromycin and amoxicillin. all PO.

Question 45

is a test of cure required in chlamydia management?

Answer 45

A test of cure is not routinely recommended. However, a test of cure should be used for rectal cases of chlamydia, in pregnancy (3 weeks later) and where symptoms persist.

Question 46

complications of chlamydia

Answer 46

Pelvic inflammatory disease
Chronic pelvic pain
Infertility
Ectopic pregnancy
Epididymo-orchitis
Conjunctivitis
Lymphogranuloma venereum
Reactive arthritis

Pregnancy-related complications include:

Preterm delivery
Premature rupture of membranes
Low birth weight
Postpartum endometritis
Neonatal infection (conjunctivitis and pneumonia)

Question 47

LGV - who does it most commonly affect and what are the 3 stages?

Answer 47

It most commonly occurs in men who have sex with men (MSM).
3 stages -
1 - painless genital ulcer
2- painful lymphadenitis - swelling, inflammation and pain in the lymph nodes infected with the bacteria. The inguinal or femoral lymph nodes may be affected.
3 - proctitis - Proctocolitis leads to anal pain, change in bowel habit, tenesmus and discharge.

Tx is extended period of doxycycline. azithromycin or erythromycin or ofloxacin are alernatives

Question 48

features and cause of chlaydial conjuctivitis. also give 1 important differential

Answer 48

Conjunctival infection usually as a result of sexual activity, when genital fluid comes in contact with the eye.
It presents with chronic erythema, irritation and discharge lasting more than two weeks. Most cases are unilateral.
occurs more frequently in young adults. It can also affect neonates with mothers infected with chlamydia.
Gonococcal conjunctivitis is a crucial differential diagnosis and should be tested.

Question 49

risk factors for chlamydia

Answer 49

Age <25 years.
Sexual partner positive for chlamydia
multiple sexual partners
A recent change in sexual partner.
Lack of consistent use of condoms.
Non-barrier contraception.
Infection with another STI.
Poor socio-economic status.

Question 50

what organism is gonorrhoea

Answer 50

Neisseria gonorrhoeae is a Gram-negative diplococcus bacteria that infects mucous membranes with a columnar epithelium, such as the endocervix in women, urethra, rectum, conjunctiva and pharynx. It spreads via contact with mucous secretions from infected areas.

Question 51

which STI organism has a high lvl of abx resitance?

Answer 51

There is a high level of antibiotic resistance to gonorrhoea

Question 52

presentation of gonorrhoea infection?

Answer 52

more likely to be symptomatic than infection with chlamydia
Female genital infections can present with:
Odourless purulent discharge, possibly green or yellow
Dysuria
Pelvic pain
Male genital infections can present with:
Odourless purulent discharge, possibly green or yellow
Dysuria
Testicular pain or swelling (epididymo-orchitis)

Rectal infection may cause anal or rectal discomfort and discharge, but is often asymptomatic. Pharyngeal infection may cause a sore throat, but is often asymptomatic. Prostatitis causes perineal pain, urinary symptoms and prostate tenderness on examination. Conjunctivitis causes erythema and a purulent discharge.

Question 53

how is gonorrhoea diagnosed?

Answer 53

Genital infection can be diagnosed with endocervical, vulvovaginal or urethral swabs, or in a first-catch urine sample. Rectal and pharyngeal swab are recommended in all men who have sex with men (MSM), and in those with risk factors (e.g. anal and oral sex) or symptoms of infection in these areas.

A standard charcoal endocervical swab should be taken for microscopy, culture and antibiotic sensitivities before initiating antibiotics. This is particularly important given the high rates of antibiotic resistance.

Question 54

management of gonorrhoea

Answer 54

always check local guidelines for preferred abx

1. referral to GUM clinic to coordinate testing, treatment and contact tracing
2. usually for uncomplicated gonorrhoea -
   A single dose of intramuscular ceftriaxone 1g if the sensitivities are NOT known
   A single dose of oral ciprofloxacin 500mg if the sensitivities ARE known
3. All patients should have a follow up “test of cure” given the high antibiotic resistance. This is with NAAT testing if they are asymptomatic, or cultures where they are symptomatic. BASHH recommend a test of cure at least:
   - 72 hours after treatment for culture
   - 7 days after treatment for RNA NATT
   - 14 days after treatment for DNA NATT
4. other considerations -
   Abstain from sex for seven days of treatment of all partners to reduce the risk of re-infection
   Test for and treat any other sexually transmitted infections
   Provide advice about ways to prevent future infection
   Consider safeguarding issues and sexual abuse in children and young people

Question 55

complications of gonorrhoea

Answer 55

Pelvic inflammatory disease
Chronic pelvic pain
Infertility
Epididymo-orchitis (men)
Prostatitis (men)
Conjunctivitis
Urethral strictures
Disseminated gonococcal infection
Skin lesions
Fitz-Hugh-Curtis syndrome
Septic arthritis
Endocarditis
A key complication to remember is gonococcal conjunctivitis in a neonate. Gonococcal infection is contracted from the mother during birth. Neonatal conjunctivitis is called ophthalmia neonatorum (can be caused by chlamydia as well). This is a medical emergency and is associated with sepsis, perforation of the eye and blindness.

Question 56

what is disseminated gonoccocal infection and what are the symptoms?

Answer 56

Disseminated gonococcal infection (GDI) is a complication of untreated gonococcal infection, where the bacteria spreads to the skin and joints. It causes:

Various non-specific skin lesions
Polyarthralgia (joint aches and pains)
Migratory polyarthritis (arthritis that moves between joints)
Tenosynovitis
Systemic symptoms such as fever and fatigue

Question 57

breast asymmetry

Answer 57

breast growth in girls normally begins between
the ages of 8 and 13. Most cases of breast asymmetry during puberty are believed to be physiologic. However, if the breasts have not become more or less an equal size by the age of about 16 years old (or near the end of puberty), they will probably remain unequal. About one in four adult women have some degree of asymmetry of the breasts. possible causes of breast asymmetry: different in adolescents and adults - physiologic, congenital, traumatic procedure, abscess, benign neoplastic lesions, secondary and primary malignant lesions. if significant asymmetry persists after full breast development, augmentation or reduction mammoplasty may be considered. Invasive procedures should always be delayed until breast development is complete. children have extremely low risk of breast cancer.
always bear in mind the psychosocial impact of asymmetrical breasts in women and esp in adolescents who are more vulnerable to feeling depressed and socially isolated.

Question 58

triple assessment of breast lump?

Answer 58

clinical assessment (history and examination)
imaging (mammography or MRI)
histology (fine needle aspiration or core biopsy)

Question 59

breast exam key points

Answer 59

https://geekymedics.com/breast-examination-osce-guide/

chaperone
keep exposure limited and pt to dress and undress in privacy
you can use your examination to teach the patient how to self examine
inspection - Inspect the breasts in three positions:

Relaxed with arms by the sides
Hands pressed into the hip (tensing muscles of the chest wall to look for tethering)
Hands placed behind the head

Palpation -
Examine the patient sat back at 45 degrees
Use the flat of your fingers to palpate, gently pressing the breast tissue down against the chest wall and rolling the tissue around to feel for any irregularities or lumps. Examine areas away from any abnormal or painful regions first.
The important areas to cover are:

The four quadrants of each breast (upper outer, upper inner, lower outer and lower inner)
Subareolar area (under the nipple)
Tail of Spence (the extension between the breast and the axilla)
Axilla (armpit)
Examine the neck for cervical and supraclavicular lymphadenopathy.

Question 60

Peau d’orange

Answer 60

Peau d’orange is a description of an irregular patch of skin, which may be associated with inflammatory breast cancer. Blocked lymphatic drainage from the affected skin area causes superficial oedema (fluid collecting in the skin), making the skin thickened. The sweat ducts cause small dimples within the oedematous skin, leading to the thickened and dimpled appearance, similar to the surface of orange peel.

Question 61

Paget’s disease of the nipple

Answer 61

Paget’s disease of the nipple is an erythematous, scaly rash of the nipple region, resembling eczema. It can be itchy, inflamed or ulcerated. It may indicate underlying breast cancer and requires further investigation.

Question 62

basic breast anatomy

Answer 62

Most of the breast is adipose (fatty) tissue. The areola surrounds the nipple. Behind the nipple are the ducts, which lead into the lobules, where breast milk is produced. Milk is secreted through the ducts and out of openings on the nipple.

Question 63

ddx breast lump

Answer 63

Any breast lump needs a thorough assessment to exclude breast cancer.

1. Breast Cancer - Triple assessment req to exclude breast cancer.

Lumps that are hard, irregular, painless or fixed in place

Lumps may be tethered to the skin or the chest wall

Nipple retraction

Skin dimpling or oedema (peau d’orange)

two week wait referral for suspected breast cancer for:

An unexplained breast lump in patients aged 30 or above

Unilateral nipple changes in patients aged 50 or above (discharge, retraction or other changes)

considering a two week wait referral for:

An unexplained lump in the axilla in patients aged 30 or above

Skin changes suggestive of breast cancer

The NICE guidelines suggest considering non-urgent referral for unexplained breast lumps in patients under 30 years.

2. Fibroadenoma - Fibroadenomas are common benign tumours of stromal/epithelial breast duct tissue. They are typically small and mobile within the breast tissue. “breast mouse”. more common in younger women, aged between 20 and 40 years. They respond to the female hormones (oestrogen and progesterone), which is why they are more common in younger women and often regress after menopause.

Painless

Smooth

Round

Well circumscribed (well-defined borders)

Firm

Mobile (moves freely under the skin and above the chest wall)

Usually up to 3cm diameterFibroadenomas are not cancerous and are not usually associated with an increased risk of developing breast cancer. Complex fibroadenomas and a positive family history of breast cancer may indicate a higher risk.

3. Fibrocystic Breast Changes -

The connective tissues (stroma), ducts and lobules of the breast respond to the female sex hormones (oestrogen and progesterone), becoming fibrous (irregular and hard) and cystic (fluid-filled). These changes fluctuate with the menstrual cycle.

It is a benign (non-cancerous) condition, although it can vary in severity and significantly affect the patient’s quality of life if severe. It is common in women of menstruating age. Symptoms often occur prior to menstruating (within 10 days) and resolve once menstruation begins. Symptoms usually improve or resolve after menopause.

Symptoms can affect different areas of the breast, or both breasts, with:

Lumpiness

Breast pain or tenderness (mastalgia)

Fluctuation of breast size

Management of fibrocystic breast changes is to exclude cancer and manage symptoms. Options to manage cyclical breast pain (mastalgia) include:

Wearing a supportive bra

Non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen

Avoiding caffeine is commonly recommended

Applying heat to the area

Hormonal treatments (e.g., danazol and tamoxifen) under specialist guidance

4. Breast Cysts -

Breast cysts are benign, individual, fluid-filled lumps. They are the most common cause of breast lumps and occur most often between ages 30 and 50, more so in the perimenopausal period. They can be painful and may fluctuate in size over the menstrual cycle.

On examination, breast cysts are:

Smooth

Well-circumscribed

Mobile

Possibly fluctuant

Breasts cysts require further assessment to exclude cancer, with imaging and potentially aspiration or excision. Aspiration can resolve symptoms in patients with pain. Having a breast cyst may slightly increase the risk of breast cancer.

5. Fat Necrosis -

Fat necrosis causes a benign lump formed by localised degeneration and scarring of fat tissue in the breast. Fat necrosis is commonly triggered by localised trauma, radiotherapy or surgery, with an inflammatory reaction resulting in fibrosis and necrosis (death) of the fat tissue. It does not increase the risk of breast cancer.

On examination, fat necrosis can be:

Painless

Firm

Irregular

Fixed in local structures

There may be skin dimpling or nipple inversion

Ultrasound or mammogram can show a similar appearance to breast cancer. Histology (by fine needle aspiration or core biopsy) may be required to confirm the diagnosis and exclude breast cancer.

After excluding breast cancer, fat necrosis is usually treated conservatively. It may resolve spontaneously with time. Surgical excision may be used if required for symptoms.

6. Lipoma -

Lipomas are benign tumours of fat (adipose) tissue. They can occur almost anywhere on the body where there is adipose tissue, including the breasts.

On examination, lipomas are typically:

Soft

Painless

Mobile

Do not cause skin changes

They are typically treated conservatively with reassurance. Alternatively, they can be surgically removed.

7. Galactocele - Galactoceles occur in women that are lactating (producing breast milk), often after stopping breastfeeding. They are breast milk filled cysts that occur when the lactiferous duct is blocked, preventing the gland from draining milk. They present with a firm, mobile, painless lump, usually beneath the areola. They are benign and usually resolve without any treatment. It is possible to drain them with a needle. Rarely, they can become infected and require antibiotics.
8. Phyllodes tumour -

Phyllodes tumours are rare tumours of the connective tissue (stroma) of the breast, occurring most often between ages 40 and 50. They are large and fast-growing. They can be benign (~50%), borderline (~25%) or malignant (~25%). Malignant phyllodes tumours can metastasise.

Treatment involves surgical removal of the tumour and the surrounding tissue (“wide excision”). They can reoccur after removal.

Chemotherapy may be used in malignant or metastatic tumours.

Question 64

mastalgia

Answer 64

common

It can be:

Cyclical – occurring at specific times of the menstrual cycle

Non-cyclical – unrelated to the menstrual cycle

Pain is not typically considered a symptom of breast cancer. After a proper assessment and without other features of breast cancer (e.g., a lump or skin changes), patients with mastalgia can generally be reassured.

Cyclical Breast Pain:

• more common and is related to hormonal fluctuations during the menstrual cycle. The pain typically occurs during the two weeks before menstruation (the luteal phase) and settles during the menstrual period. There may be other symptoms of premenstrual syndrome, such as low mood, bloating, fatigue or headaches.

Symptoms are typically:

Bilateral and generalised

Heaviness

Aching

Non-Cyclical Breast Pain:

• more common in women aged 40 – 50 years. It is more likely to be localised than cyclical breast pain. Often no cause is found. However, it may be caused by:

Medications (e.g., hormonal contraceptive medications)

Infection (e.g., mastitis)

Pregnancy

• The pain may not originate in the breast but instead come from:

The chest wall (e.g., costochondritis)

The skin (e.g., shingles or post-herpetic neuralgia)

A breast pain diary can help diagnose cyclical breast pain.

The three main things to exclude when someone presents with breast pain are:

Cancer (perform a thorough history and examination)

Infection (mastitis)

Pregnancy (perform a pregnancy test)

Options to manage cyclical breast pain include:

Wearing a supportive bra

Non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen (oral or topical)

Avoiding caffeine is commonly recommended

Applying heat to the area

Hormonal treatments (e.g., danazol and tamoxifen) under specialist guidance

Question 65

gynaecomastia

Answer 65

Gynaecomastia refers to the enlargement of the glandular breast tissue in males. Male breast enlargement is relatively common, particularly in adolescents and older men (aged over 50 years). It may also be present in newborns due to circulating maternal hormones, resolving as the maternal hormones are cleared.

causes -

Gynaecomastia is generally caused by a hormonal imbalance between oestrogen and androgens (e.g., testosterone), with higher oestrogen and lower androgen levels

• Prolactin is a hormone that also stimulates glandular breast tissue development (as well as breast milk production). Therefore, raised prolactin (hyperprolactinaemia) can cause gynaecomastia. eg as a SE of antipsychotics
• Gynaecomastia is idiopathic in many cases, meaning no cause is found.
• Gynaecomastia may be physiological in adolescents, where there can be proportionally higher oestrogen levels around puberty. This resolves after a few years, as the hormone levels balance.
• Gynaecomastia can be caused by conditions that increase oestrogen:

Obesity (aromatase is an enzyme found in adipose tissue that converts androgens to oestrogen)

Testicular cancer (oestrogen secretion from a Leydig cell tumour)

Liver cirrhosis and liver failure

Hyperthyroidism

Human chorionic gonadotrophin (hCG) secreting tumour, notably small cell lung cancer

• therefore in someone presenting with gynaecomastia, examine the testicles, liver and check for signs of hyperthyroidism
• Gynaecomastia can be caused by conditions that reduce testosterone:

Testosterone deficiency in older age

Hypothalamus or pituitary conditions that reduce LH and FSH levels (e.g., tumours, radiotherapy or surgery)

Klinefelter syndrome (XXY sex chromosomes)

Orchitis (inflammation of the testicles, e.g., infection with mumps)

Testicular damage (e.g., secondary to trauma or torsion)

• medications and drugs that can cause gynaecomastia:

Anabolic steroids (raise oestrogen levels)

Antipsychotics (increase prolactin levels)

Digoxin (stimulates oestrogen receptors)

Spironolactone (inhibits testosterone production and blocks testosterone receptors)

Gonadotrophin-releasing hormone (GnRH) agonists (e.g., goserelin used to treat prostate cancer)

Opiates (e.g., illicit heroin use)

Marijuana

Alcohol

assessment -

• distinguish between gynaecomastia and breast enlargement due to obesity (pseudogynaecomastia). On palpation, there will be firm tissue behind the areolas in gynaecomastia, representing growth of the gland and duct tissue. This is different to simple adipose (fat) tissue, which is soft and more evenly distributed
• hx -

Age of onset, duration and change over time

Associated sexual dysfunction (indicating low testosterone)

Any palpable breast lumps or skin changes (exclude breast cancer)

Associated symptoms that may indicate the cause (e.g., testicular lumps or symptoms of hyperthyroidism)

Prescription medication (e.g., antipsychotics, spironolactone or GnRH agonists)

Use of anabolic steroids, illicit drugs or alcohol

• exam -

True gynaecomastia versus simple adipose tissue

Unilateral or bilateral

Any palpable lumps, skin changes or lymphadenopathy (exclude breast cancer)

Body mass index (BMI)

Testicular examination (e.g., lumps, atrophy or absence)

Signs of testosterone deficiency (e.g., reduced body and pubic hair)

Signs of liver disease (e.g., jaundice, hepatomegaly, spider naevi and ascites)

Signs of hyperthyroidism (e.g., sweating, tachycardia and weight loss)

• Ix - Simple gynaecomastia in an otherwise healthy adolescent may be managed with watchful waiting. Unexplained rapid-onset gynaecomastia in a 30 year old male with no apparent cause may require in-depth investigations.

Blood tests:

Renal profile (U&Es)

Liver function tests (LFTs)

Thyroid function tests (TFTs)

Testosterone

Sex hormone-binding globulin (SHBG)

Oestrogen

Prolactin (hyperprolactinaemia)

Luteinising hormone (LH) and follicle-stimulating hormone (FSH)

Alpha-fetoprotein and beta-hCG (testicular cancer)

Genetic karyotyping (if Klinefelter’s syndrome is suspected)

Imaging:

Breast ultrasound (may help assess the extent of gynaecomastia)

Mammogram (if cancer is suspected)

Biopsy (if cancer is suspected)

Testicular ultrasound (if cancer is suspected)

Chest x-ray (if lung cancer is suspected)

Mx -

depends on cause.

Gynaecomastia almost always resolves with time in adolescents. Stopping a causative drug (e.g., anabolic steroids or spironolactone) will usually resolve the symptoms. Patients may be referred to the specialist breast clinic where the cause is unclear or cancer is suspected.

Treatment options in problematic cases (e.g., pain or psychological distress) include:

Tamoxifen (a selective oestrogen receptor modulator that reduces the effect of oestrogen on the breast tissue)

Surgery

Question 66

galactorrhoea

Answer 66

Galactorrhoea refers to breast milk production not associated with pregnancy or breastfeeding. Breast milk is produced in response to the hormone prolactin.Prolactin is produced in the anterior pituitary gland. It is also produced in other organs, such as the breast and prostate

Dopamine agonists (e.g., bromocriptine or cabergoline) can be used to suppress prolactin secretion.

Pregnancy and Breastfeeding:

• Milk production may start in small amounts during the second or third trimester of pregnancy, and leaking can occur during that time. Oestrogen and progesterone inhibit the secretion of prolactin. In pregnancy, higher levels of oestrogen and progesterone inhibit breast milk production.

Oxytocin stimulates breast milk excretion. Full milk production starts shortly after birth in response to oxytocin release and a rapid drop in oestrogen and progesterone.

• Breast milk production will taper off and stop once breastfeeding stops.

Hyperprolactinaemia:

• key causes to remember are:

Idiopathic (no cause can be found)
Prolactinomas (hormone-secreting pituitary tumours)
Endocrine disorders, particularly hypothyroidism and polycystic ovarian syndrome
Medications, particularly dopamine antagonists (i.e., antipsychotic medications)

• Prolactin suppresses gonadotropin-releasing hormone (GnRH) by the hypothalamus, leading to reduced LH and FSH release. Therefore, hyperprolactinaemia can also present with:

Menstrual irregularities, particularly amenorrhoea (absent periods)
Reduced libido (low sex drive)
Erectile dysfunction (in men)
Gynaecomastia (in men)

• Prolactinomas: tumours of the pituitary gland that secrete excessive prolactin. This may be associated with multiple endocrine neoplasia (MEN) type 1, an autosomal dominant genetic condition.

Prolactinomas can be:

Microprolactinomas – smaller than 10 mm
Macroprolactinomas – larger than 10 mm

Macroadenomas can have adverse effects relating to their size:

Headaches
 Bitemporal hemianopia (loss of the outer visual fields in both eyes)The optic chiasm sits just above the pituitary gland.

Non-Milk Discharge:

• Mammary duct ectasia
• Duct papilloma
• Pus from a breast abscess

Ix -

• pregnancy test is essential in women with childbearing potential
• Serum prolactin
  Renal profile (U&Es)
  Liver function tests (LFTs)
  Thyroid function tests (TFTs)
• An MRI scan is the investigation of choice for diagnosing pituitary tumours.

Mx -

• targeted at the underlying cause.
• Dopamine agonists (e.g., bromocriptine or cabergoline) can be used to treat the symptoms of hyperprolactinaemia. They block prolactin secretion and improve symptoms.

Trans-sphenoidal surgical removal of the pituitary tumour is the definitive treatment of hyperprolactinaemia secondary to a prolactinoma. The pituitary gland and tumour are accessed and removed through the nose and sphenoid bone.

Question 67

Mammary Duct Ectasia

Answer 67

benign condition

dilation of the large ducts in the breasts.

There is inflammation in the ducts, leading to intermittent discharge from the nipple. The discharge may be white, grey or green.

occurs most frequently in perimenopausal women. Smoking is a significant risk factor.

Mammary duct ectasia may present with:

Nipple discharge

Tenderness or pain

Nipple retraction or inversion

A breast lump (pressure on the lump may produce nipple discharge)

may be picked up incidentally on a mammogram,

initial priority is to exclude breast cancer using triple assessment

Microcalcifications are a key finding to remember on a mammogram, although they are not specific to mammary duct ectasia.

Other investigations that may be performed:

Ductography – contrast is injected into an abnormal duct, and mammograms are performed to visualise the duct

Nipple discharge cytology – examining the cells in a sample of the nipple discharge

Ductoscopy – inserting a tiny endoscope (camera) into the duct

Mx -

may resolve without any treatment. It is not associated with an increased risk of cancer.

Management depends on the individual patient:

Reassurance after excluding cancer may be all that is required

Symptomatic management of mastalgia (supportive bra and warm compresses)

Antibiotics if infection is suspected or present

Surgical excision of the affected duct (microdochectomy) may be required in problematic cases

Question 68

Intraductal Papilloma

Answer 68

Intraductal papillomas are benign tumours; however, they can be associated with atypical hyperplasia or breast cancer.

An intraductal papilloma is a warty lesion that grows within one of the ducts in the breast. It is the result of the proliferation of epithelial cells. The typical presentation is with clear or blood-stained nipple discharge.

can occur at any age, but most often occur between 35-55 years.

often asymptomatic. They may be picked up incidentally on mammograms or ultrasound.

They may present with:

Nipple discharge (clear or blood-stained)

Tenderness or pain

A palpable lump

diagnosis - pt requires triple assessment

Ductography may also be used. The papilloma will be seen as an area that does not fill with contrast (a “filling defect”).

Intraductal papillomas require complete surgical excision. After removal, the tissue is examined for atypical hyperplasia or cancer that may not have been picked up on the biopsy.

Question 69

Lactational Mastitis

Answer 69

inflammation of breast tissue and is a common complication of breastfeeding.

can occur with or without associated infection.

Mastitis can be caused by an obstruction in the ducts and accumulation of milk. Regularly expressing breast milk can help prevent this from occurring.

Mastitis can also be caused by infection. Bacteria can enter at the nipple and back-track into the ducts, causing infection and inflammation. The most common bacterial cause is Staphylococcus aureus.

Mastitis presents with:

Breast pain and tenderness (unilateral)

Erythema in a focal area of breast tissue

Local warmth and inflammation

Nipple discharge

Fever

Mx -

• Where mastitis is caused by blockage of the ducts, management is conservative, with continued breastfeeding, expressing milk and breast massage. Heat packs, warm showers and simple analgesia can help symptoms.
• When conservative management is not effective, or infection is suspected (e.g., they have a fever), antibiotics should be started. Flucloxacillin is the first line, or erythromycin when allergic to penicillin. A sample of milk can be sent to the lab for culture and sensitivities. Fluconazole may be used for suspected candidal infections.
• Women should be encouraged to continue breastfeeding, even when an infection is suspected. It will not harm the baby and will help to clear the mastitis by encouraging flow. Where breastfeeding is difficult, or there is milk left after feeding, they can express milk to empty the breast.
• A breast abscess is a rare complication if mastitis is not adequately treated. This may need surgical incision and drainage.

Candida of the Nipple:

• can occur, often after a course of antibiotics
• This can lead to recurrent mastitis, as it causes cracked skin on the nipple that creates an entrance for infection. It is associated with oral thrush and candidal nappy rash in the infant.
• Candida infection of the nipple may present with:

Sore nipples bilaterally, particularly after feeding

Nipple tenderness and itching

Cracked, flaky or shiny areola

Symptoms in the baby, such as white patches in the mouth and on the tongue, or candidal nappy rash

Both the mother and baby need treatment, or it will reoccur. Treatment is with:

Topical miconazole 2% to the nipple, after each breastfeed

Treatment for the baby (e.g., oral miconazole gel or nystatin)

Question 70

Breast Abscess

Answer 70

collection of pus within an area of the breast, usually caused by a bacterial infection. This may be a:

Lactational abscess (associated with breastfeeding)

Non-lactational abscess (unrelated to breastfeeding)

RFs for infective mastitis -

• smoking
• Damage to the nipple (e.g., nipple eczema, candidal infection or piercings)
• Underlying breast disease (e.g., cancer)

Causes:

• Staphylococcus aureus (the most common)
• Streptococcal species
• Enterococcal species
• Anaerobic bacteria (such as Bacteroides species and anaerobic streptococci)
• Staph aureus, streptococcal and enterococcal bacteria are gram positive, meaning that penicillins are likely to be effective.Co-amoxiclav (amoxicillin plus clavulanic acid) covers anaerobes. Metronidazole gives excellent anaerobic cover (also worth remembering), so it can also be added to the mix.

The presentation of mastitis or breast abscesses is usually acute, meaning the onset is within a few days.

Mastitis with infection in the breast tissue presents with breast changes of:

Nipple changes

Purulent nipple discharge (pus from the nipple)

Localised pain

Tenderness

Warmth

Erythema (redness)

Hardening of the skin or breast tissue

Swelling

The key feature that suggests a breast abscess is a swollen, fluctuant, tender lump within the breast. Fluctuance refers to being able to move fluid around within the lump using pressure during palpation. Where there is infection without an abscess, there can still be hardness of the tissue, forming a lump, but it will not be fluctuant as it is not filled with fluid.

There may be generalised symptoms of infection, such as:

Muscle aches

Fatigue

Fever

Signs of sepsis (e.g., tachycardia, raised respiratory rate and confusion)

Mx -

different management for mastitis depending on whether it is lactational or non-lactational.

Lactational mastitis caused by blockage of the ducts is managed conservatively, with continued breastfeeding, expressing milk and breast massage. Heat packs, warm showers and simple analgesia can help symptoms. Antibiotics (flucloxacillin or erythromycin/clarithromycin where there is penicillin allergy) are required where infection is suspected or symptoms do not improve.

Management of non-lactational mastitis involves:

• Analgesia
• Antibiotics
• Treatment for the underlying cause (e.g., eczema or candidal infection)

Antibiotics for non-lactational mastitis need to be broad-spectrum. The NICE clinical knowledge summaries (last updated January 2021) recommend either:

• Co-amoxiclav OR
• Erythromycin/clarithromycin (macrolides) plus metronidazole (to cover anaerobes)

Management of a breast abscess requires:

• Referral to the on-call surgical team in the hospital for management
• Antibiotics
• Ultrasound (confirm the diagnosis and exclude other pathology)
• Drainage (needle aspiration or surgical incision and drainage)
• Microscopy, culture and sensitivities of the drained fluid

Women who are breastfeeding are advised to continue breastfeeding when they have mastitis or breast abscesses. They should regularly express breast milk if feeding is too painful, then resume feeding when possible. This is not harmful to the baby and is important in helping resolve the mastitis or abscess.

Question 71

breast cancer

Answer 71

most common form of cancer in the UK. It mostly affects women and is rare in men. 1 in 8 women will develop breast cancer in their lifetime.

RFs -

• Female (99% of breast cancers)
• Increased oestrogen exposure (earlier onset of periods and later menopause)
• More dense breast tissue (more glandular tissue)
• Obesity
• Smoking
• Family history (first-degree relatives)
• The combined contraceptive pill gives a small increase in the risk of breast cancer, but the risk returns to normal ten years after stopping the pill.
• Hormone replacement therapy (HRT) increases the risk of breast cancer, particularly combined HRT (containing both oestrogen and progesterone).

BRCA refers to the BReast CAncer gene. The BRCA genes are tumour suppressor genes. Mutations in these genes lead to an increased risk of breast cancer (as well as ovarian and other cancers).

The BRCA1 gene is on chromosome 17. In patients with a faulty gene:

Around 70% will develop breast cancer by aged 80

Around 50% will develop ovarian cancer

Also increased risk of bowel and prostate cancer

The BRCA2 gene is on chromosome 13. In patients with a faulty gene:

Around 60% will develop breast cancer by aged 80

Around 20% will develop ovarian cancer

There are other rarer genetic abnormalities associated with breast cancer (e.g., TP53 and PTEN genes).

types of breast cancer:

• Ductal Carcinoma In Situ (DCIS) -

Pre-cancerous or cancerous epithelial cells of the breast ducts

Localised to a single area

Often picked up by mammogram screening

Potential to spread locally over years

Potential to become an invasive breast cancer (around 30%)

Good prognosis if full excised and adjuvant treatment is used

• Lobular Carcinoma In Situ (LCIS) -

A pre-cancerous condition occurring typically in pre-menopausal women

Usually asymptomatic and undetectable on a mammogram

Usually diagnosed incidentally on a breast biopsy

Represents an increased risk of invasive breast cancer in the future (around 30%)

Often managed with close monitoring (e.g., 6 monthly examination and yearly mammograms)

• Invasive Ductal Carcinoma – NST -

NST means no special/specific type, where it is not more specifically classified (e.g., medullary or mucinous)

Also known as invasive breast carcinoma of no special/specific type (NST)

Originate in cells from the breast ducts

80% of invasive breast cancers fall into this category

Can be seen on mammograms

• Invasive Lobular Carcinomas (ILC) -

Around 10% of invasive breast cancers

Originate in cells from the breast lobules

Not always visible on mammograms

• Inflammatory Breast Cancer -

1-3% of breast cancers

Presents similarly to a breast abscess or mastitis

Swollen, warm, tender breast with pitting skin (peau d’orange)

Does not respond to antibiotics

Worse prognosis than other breast cancers

• Paget’s Disease of the Nipple -

Looks like eczema of the nipple/areolar

Erythematous, scaly rash

Indicates breast cancer involving the nipple

May represent DCIS or invasive breast cancer

Requires biopsy, staging and treatment, as with any other invasive breast cancer

• Rarer Types of Breast Cancer -

Medullary breast cancer

Mucinous breast cancer

Tubular breast cancer

Multiple others

Breast Cancer Screening

• NHS breast cancer screening program offers a mammogram every 3 years to women aged 50 – 70 years.
• There are some potential downsides to screening:
• Anxiety and stress
• Exposure to radiation, with a very small risk of causing breast cancer
• Missing cancer, leading to false reassurance
• Unnecessary further tests or treatment where findings would not have otherwise caused harm
• Generally, the benefits far outweigh the downsides and breast cancer screening is recommended.

High-Risk Patients:

• different recommendations for screening patients with a higher risk due to a family history of breast cancer.
• There are specific criteria for a referral from primary care for patients that may be at higher risk due to their family history. For example:
  
  • A first-degree relative with breast cancer under 40 years
  • A first-degree male relative with breast cancer
  • A first-degree relative with bilateral breast cancer, first diagnosed under 50 years
  • Two first-degree relatives with breast cancer
• may be referred to secondary care breast clinic or a specialist genetic clinic.
• Patients require genetic counselling and pre-test counselling before performing genetic tests. This is to discuss the benefits and drawbacks of genetic testing, such as the implications for family members and offspring.
• Annual mammogram screening is offered to women with increased risk, between specific age ranges, depending on their level of risk (potentially starting from aged 30, if high risk).
• Chemoprevention may be offered for women at high risk, with:
  
  • Tamoxifen if premenopausal
  • Anastrozole if postmenopausal (except with severe osteoporosis)
• Risk-reducing bilateral mastectomy or bilateral oophorectomy (removing the ovaries) is an option for women at high risk. This is suitable for only a small number of women and requires significant counselling and weighing up risks and benefits.

Clinical features that may suggest breast cancer are:

• Lumps that are hard, irregular, painless or fixed in place
• Lumps may be tethered to the skin or the chest wall
• Nipple retraction
• Skin dimpling or oedema (peau d’orange)
• Lymphadenopathy, particularly in the axilla

Referral Criteria:

two week wait referral for suspected breast cancer for:

• An unexplained breast lump in patients aged 30 or above
• Unilateral nipple changes in patients aged 50 or above (discharge, retraction or other changes)

The NICE guidelines recommend also considering a two week wait referral for:

• An unexplained lump in the axilla in patients aged 30 or above
• Skin changes suggestive of breast cancer

The NICE guidelines suggest considering non-urgent referral for unexplained breast lumps in patients under 30 years.

Triple Diagnostic Assessment is used

Imaging:

• Younger women generally have more dense breasts with more glandular tissue.
• Ultrasound scans are typically used to assess lumps in younger women (e.g., under 30 years). They are helpful in distinguishing solid lumps (e.g., fibroadenoma or cancer) from cystic (fluid-filled) lumps.
• Mammograms are generally more effective in older women. They can pick up calcifications missed by ultrasound.
• MRI scans may be used:
• For screening in women at higher risk of developing breast cancer (e.g., strong family history)
• To further assess the size and features of a tumour

Lymph Node Assessment:

Women diagnosed with breast cancer require an assessment to see if cancer has spread to the lymph nodes. All women are offered an ultrasound of the axilla (armpit) and ultrasound-guided biopsy of any abnormal nodes.

A sentinel lymph node biopsy may be used during breast cancer surgery where the initial ultrasound does not show anyone abnormal nodes.

Breast Cancer Receptors:

Breast cancer cells may have receptors that can be targeted with breast cancer treatments. These receptors are tested for on samples of the tumour and help guide treatment. There are three types of receptors:

Oestrogen receptors (ER)

Progesterone receptors (PR)

Human epidermal growth factor (HER2)

Triple-negative breast cancer is where the breast cancer cells do not express any of these three receptors. This carries a worse prognosis, as it limits the treatment options for targeting the cancer.

Gene Expression Profiling:

Gene expression profiling involves assessing which genes are present within the breast cancer on a histology sample. This helps predict the probability that the breast cancer will reoccur as a distal metastasis (away from the original cancer site) within 10 years.

The NICE guidelines recommend this for women with early breast cancers that are ER positive but HER2 and lymph node negative. It helps guide whether to give additional chemotherapy.

Metastasis (2 Ls 2 Bs)

You can remember the notable locations that breast cancer metastasis occur using 2 Ls and 2 Bs:

L – Lungs

L – Liver

B – Bones

B – Brain

**Breast cancer can spread to any region of the body. In patients with a metastatic tumour, regardless of where it is, the primary could be breast cancer. This is worth remembering, as you may be asked “where might this metastasis have originated” in an exam or OSCE scenario. If the patient is female, answering “breast cancer” will be a good answer. The other cancer that can spread practically anywhere, and may be less obvious, is melanoma (a type of skin cancer). **

Staging:

The first step in staging is with triple assessment. Additional investigations may be required:

Lymph node assessment and biopsy

MRI of the breast and axilla

Liver ultrasound for liver metastasis

CT of the thorax, abdomen and pelvis for lung, abdominal or pelvic metastasis

Isotope bone scan for bony metastasis

The TNM system is used to stage breast cancer. This grades the tumour (T), nodes (N) and metastasis (M).

Mx:

MDT team involvement

Surgery:

• Tumour Removal
  
  • The objective is to remove the cancer tissue along with a clear margin of normal breast tissue. The options are:
    
    • Breast-conserving surgery (e.g., wide local excision), usually coupled with radiotherapy
    • Mastectomy (removal of the whole breast), potentially with immediate or delayed breast reconstruction
• Axillary Clearance:
• Removal of the axillary lymph nodes is offered to patients where cancer cells are found in the nodes. Usually, the majority or all lymph nodes are removed from the axilla. This increases the risk of chronic lymphoedema in that arm.
• Chronic Lymphoedema:
  
  • caused by impaired lymphatic drainage of an area. Lymphoedema can occur in an entire arm after breast cancer surgery on that side, with removal of the axillary lymph nodes. The tissues in areas affected by an impaired lymphatic system become swollen with excess, protein-rich fluid. The lymphatic system is responsible for draining excess fluid from the tissues and plays an important role in the immune system. Areas of lymphoedema are prone to infection.
  • There are specialist lymphoedema services that can help manage patients. Non-surgical treatment options include:
    
    • Massage techniques to manually drain the lymphatic system (manual lymphatic drainage)
    • Compression bandages
    • Specific lymphoedema exercises to improve lymph drainage
    • Weight loss if overweight
    • Good skin care avoid taking blood or putting a cannula in the arm on the side of previous breast cancer removal surgery.

Radiotherapy:

Radiotherapy is usually used in patients with breast-conserving surgery to reduce the risk of recurrence. High-dose radiation is delivered from multiple angles to concentrate radiation on a targeted area. Patients will have a course of radiotherapy after surgery, for example, with a session of radiotherapy every day for 3 weeks.

Common radiotherapy side effects include:

General fatigue from the radiation

Local skin and tissue irritation and swelling

Fibrosis of breast tissue

Shrinking of breast tissue

Long term skin colour changes (usually darker)

Chemotherapy:

Oncologists will guide chemotherapy. Chemotherapy is used in one of three scenarios:

Neoadjuvant therapy – intended to shrink the tumour before surgery

Adjuvant chemotherapy – given after surgery to reduce recurrence

Treatment of metastatic or recurrent breast cancer

Hormone Treatment:

Patients with oestrogen-receptor positive breast cancer are given treatment that disrupts the oestrogen stimulating the breast cancer.

There are two main first-line options for this:

Tamoxifen for premenopausal women

Aromatase inhibitors for postmenopausal women (e.g., letrozole, anastrozole or exemestane)

Tamoxifen is a selective oestrogen receptor modulator (SERM). It either blocks or stimulates oestrogen receptors, depending on the site of action. It blocks oestrogen receptors in breast tissue, and stimulates oestrogen receptors in the uterus and bones. This means it helps prevent osteoporosis, but it does increase the risk of endometrial cancer.

Aromatase is an enzyme found in fat (adipose) tissue that converts androgens to oestrogen. After menopause, the action of aromatase in fat tissue is the primary source of oestrogen. Aromatase inhibitors work by blocking the creation of oestrogen in fat tissue.

Tamoxifen or an aromatase inhibitor are given for 5 – 10 years to women with oestrogen-receptor positive breast cancer.

Other options for women with oestrogen-receptor positive breast cancer, used in different circumstances, are:

Fulvestrant (selective oestrogen receptor downregulator)

GnRH agonists (e.g., goserelin or leuprorelin)

Ovarian surgery

Targeted Treatments:

Trastuzumab (Herceptin) is a monoclonal antibody that targets the HER2 receptor. It may be used in patients with HER2 positive breast cancer. Notably, it can affect heart function; therefore, initial and close monitoring of heart function is required.

Pertuzumab (Perjeta) is another monoclonal antibody that targets the HER2 receptor. It may be used in patients with HER2 positive breast cancer. This is used in combination with trastuzumab (Herceptin).

Neratinib (Nerlynx) is a tyrosine kinase inhibitor, reducing the growth of breast cancers. It may be used in patients with HER2 positive breast cancer.

Follow-up:

all patients treated for breast cancer have surveillance mammograms yearly for 5 years (longer if they are not yet old enough for the regular breast screening programme).

Patients treated for breast cancer are given an individual written care plan.

Reconstructive Surgery:

Reconstructive surgery is offered to all patients having a mastectomy. There are two options:

Immediate reconstruction, done at the time of the mastectomy

Delayed reconstruction, which can be delayed for months or years after the initial mastectomy

After breast-conserving surgery, reconstruction may not be required. The standard options, if needed, are:

Partial reconstruction (using a flap or fat tissue to fill the gap)
 Reduction and reshaping (removing tissue and reshaping both breasts to match)

After mastectomy, the options for reconstructing the breast(s) include:

Breast implants (inserting a synthetic implant)
 Flap reconstruction (using tissue from another part of the body to reconstruct the breast)

Implants

Inserting an implant is a relatively simple procedure (compared with a flap) with minimal scarring. It gives an acceptable appearance but can feel less natural (e.g., cold, less mobile and static size and shape). There can also be long-term problems, such as hardening, leakage and shape change.

Latissimus Dorsi Flap

The breast can be reconstructed using a portion of the latissimus dorsi and the associated skin and fat tissue. The tissue is tunnelled under the skin to the breast area.

“Pedicled” refers to keeping the original blood supply and moving the tissue under the skin to a new location.

“Free flap” refers to cutting the tissue away completely and transplanting it to a new location.

Transverse Rectus Abdominis Flap (TRAM Flap)

The breast can be reconstructed using a portion of the rectus abdominis, blood supply and skin. This can be either as a pedicled flap or a free flap. It poses a risk of developing an abdominal hernia due to the weakened abdominal wall.

Deep Inferior Epigastric Perforator Flap (DIEP Flap)

The breast can be reconstructed using skin and subcutaneous fat from the abdomen (no muscle) as a free flap. The deep inferior epigastric artery, with the associated fat, skin and veins, is transplanted from the abdomen to the breast. The vessels are attached to branches of the internal mammary artery and vein. This is a complex procedure involving microsurgery. There is less risk of an abdominal wall hernia than with a TRAM flap, as the abdominal wall muscles are left intact.