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KFP study > Screening and Genetics +/- Screening > Flashcards

Screening and Genetics +/- Screening Flashcards

1
Q

Who qualifies for a self collected CST?

A

Any women who’s been sexually active between age 25-74.

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2
Q

Which women are not eligible for a self collected CST?

A

anyone who requires a co-test.

this includes:
Symptomatic patients, in particular those presenting with unexplained persistent abnormal vaginal bleeding (post-coital, unexplained inter-menstrual or post-menopausal bleeding)
Surveillance of patients exposed to DES in utero
Surveillance of adenocarcinoma in situ
Patients undergoing a test of cure (treated, biopsy confirmed HSIL)

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3
Q

For Colorectal cancer (CRC) screening, who is classified as Moderately increased risk?

(3)

A

Asymptomatic persons with a single first degree relative diagnosed under 55yo

Or

Asymptomatic persons with 1 first degree AND 2 or more second degree relatives diagnosed at any age (with CRC)

Or

2 or more second degree relatives diagnosed at any age

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4
Q

For those at moderately increased risk of CRC (1-4% in 10 years), what is the screening recommendation?

A
  1. iFOBT 2 yearly from 40-49
  2. 5 yearly colonoscopies from 50-74
  3. ?aspirin 100mg, orally, daily for at least 2.5 years between ages 50-70
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5
Q

What is the evidence behind the triple test for breast cancer?

A

The triple test is more accurate at detecting
breast cancer than any of the individual
components alone.

When performed appropriately the triple test
will detect over 99.6% of breast cancers.

A triple test negative on all components
provides good evidence that cancer is unlikely
(less than 1%).

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6
Q

When to refer for breast lump or discharge?

A

any one component of the triple test is positive i.e:

a cyst aspiration is incomplete, results in bloody aspirate
(not traumatic) or a lump remains post-aspiration

spontaneous unilateral, bloody or serous discharge from a
single duct especially in women 60 years and over

eczematoid changes of the nipple-areolar skin which persist >1-2 weeks or do not respond to topical treatment

inflammatory breast conditions that are not resolving after 2 weeks of antibiotic treatment

if any test result is inconsistent with other results and requires additional investigation.

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7
Q

When should you start performing an absolute cardiovascular risk on patients without known cardiovascular disease?

A

Everyone from age 45,
done every 2 years

From age 35 in all ABTI persons, also every 2 years.

Can extend screening to every 5 years for low risk adults.

Can continue screening past the age of 74, but enter in 74 to the calculator. though might just underestimate risk

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8
Q

What to do if there is a high cardiovascular risk on the Framingham risk calculation? ( >15% )

A
  1. Lifestyle advice
  2. Start blood pressure medication. preferrably an ACEi
  3. Start lipid lowering medication preferably a statin.
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9
Q

What people are automatically high cardiovascular risk? In terms of primary prevention?

A
  1. > 60 years old WITH diabetes
  2. Diabetes with microalbuminuria
  3. Moderate to severe CKD
  4. Diagnosis of FH
  5. ABTI > 74
  6. Choleseterol > 7.5 (without medication)
  7. BP. Systolic> 180, diastolic> 110
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10
Q

A women aged 55, comes in for a cardiovascular check up. No known cardiovascular disease.

She had bloods prior, showing a FBL of 11, which was repeated and came back also at 11mmol/L. Also a fasting total cholesterol was noted at 6.8.

Her blood pressure today is systolic of 178.

Hx
Non smoker

What is her cardiovascular risk?

A

high risk according to this chart.

though when I enter into the CVD risk calculator she only comes up as medium risk when entering in the HDL at 2.0

with HDL of just 1.0 she was similar risk to the chart. So it turns out the HDL level is quite important.

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11
Q

When do you start screening for diabetes?

A

In everyone do an AUSDRISK from age 40.

in ABTI do an AUSDRISK from age 18

Repeat this every 3 years.

AUSDRISK tool doesn’t require any blood test. Just a series of questions with a waist circumference.

if risk is high (score > 12) then proceed to test for diabetes.

This whole thing doesn’t make a great deal of sense for the general population as the CVD risk is calculated every 2 years which will start at age 45 and requires a test to detect diabetes anyway .

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12
Q

When should you ask about stroke symptoms or rather assess stroke risk?

A

Should ask about stroke symptoms in anyone with AF or high cardiovascular risk

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13
Q

What is the ABCD2 rule?

A

To detect stroke risk in those presumed to have a TIA

Everyone should proceed to a CT brain, but the tool will determine the urgency.

Remember to screen for AF and use the CHA2DS2VA to decide about anticoagulation.

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14
Q
  1. When do you start screening/testing for CKD?

2.What is a kidney health check

A

1.
A. ANYONE with the following risk factors should get tested every 2 years (from age 18 onwards).

> 60 (easy to add onto CVD check)

Smoker

Diabetes

Hypertension

Family history of kidney disease

Obesity BMI>30

History of AKI

Establish CVD

*NB: Ask/investigate persons aged 18 and over if they have any of these risk factors and proceed to test (kidney health check) every 2 years if they do

*NB2: For ALL ABTI irrespective of other risk factors, start testing for CKD (using a kidney health check) from age 30 onwards.

  1. Kidney health check involves
    a. EUC with eFGR
    AND
    b. Urine ACR
    AND
    c. Blood pressure check
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15
Q

How often should you measure BP in those without known disease.

why would you do this (2)?

A

Every 2 years in everyone aged over 18.

This is to evaluate
1. overall CVD risk (45 yo+ or 35 years for ABTI)
2. to potentially find those with secondary causes of hypertension

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16
Q

What are some tangible complications (“harms”) associated with over-diagnosis of prostate cancer and associated work up.

(3)

A
  1. Urinary incontinence from those treated with a radical prostatectomy
  • other urinary problems in those treated with radiation
  1. Erectile dysfunction in those treated with surgical, radiotherapy or medical means
  2. Bowel problems which occur in 20% of those treated with external beam radiation.
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17
Q

What are the risk categories for prostate cancer?

(3)

A

No increased risk = no family history

slightly Increased risk (2-3 x normal) = one brother or father with prostate cancer aged < 60

Increased risk (9-10x normal) = 2 brothers and a father, essentially 3 family members with prostate cancer

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18
Q

For patients with NO increased risk (no family history of..) of prostate cancer what is the recommended screening, and when should you investigate further?

When to act on a PSA?

A

if under 50 years old, there is no recommendation

over 50 years?
then discuss the benefits and risks and let patient decide, follow up with 2 yearly PSAs.

If PSA is over 3.0ng/L or in the 95th percentile for age then offer further investigation

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19
Q

In those with an increased risk of prostate cancer what is the offered screening after discussing the harms and benefits?

(2)

A

Two risk categories

If slight increased risk (2-3x) normal then offer PSA at 45, and if normal only again after 50

If increased risk (9-10x) then offer PSA from aged 40, and if it is normal then doesn’t need repeat testing until aged 50

Then from aged 50 offer 2 yearly screening as with the general population

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20
Q

What is a normal PSA reading?

What is elevated

what is abnormal

A

either below 3ng/L or below the 75% for age

elevated would be <3 but in the 75-95%ile range for age

abnormal is either over 3ng/L or >95%ile for age

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21
Q

What are further investigations to order if PSA is raised?

A

if over 5.5 - refer for likely biopsy and or multiparametric MRI (MRI should only be specialist initiated however)

if over 3.0 but under 5.5, repeat PSA in 1 month WITH a Free to total PSA
- if the repeat is > 5.5 the refer on
- if the repeat is still between 3-5.5 but free to total is <25% the refer on
if- between 3.0 - 5.5 and free:total is >25% may not need biopsy

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22
Q

What is the indication for a multiparametric MRI of the prostate?

A

it’s only for those have already undergone a U/S guided biopsy that is negative, but you want to know if a second biopsy is needed.

Furthermore this is NOT for primary care practitioners to order.

And needs to be done in a specialist centre.

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23
Q

Symptoms of Male Androgen Deficiency?

(6)

A

Reduced libido
Lethargy
Reduced spontaneous erections
Hot flushes
Reduced Facial hair growth
Breast discomfort

Can also have
Worsening concentration
lack of motivation
Reduced muscular bulk
Increased body fat

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24
Q

Signs of androgen deficiency?

A

Gynaecomastia
Loss of axillary hair
Smaller testes
Lower bone mass

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25
Q

What can cause “functionally” low testosterone?

(4)

A

Opioid use
Diabetes
Depression
Obesity

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26
Q

What testing do you do for androgen deficiency?

What do the results mean?

A

first: total testosterone

if low then repeat
-total testosterone
WITH
-FSH/LH

If low testosterone and high FSH/LH, there is an organic problem with the testes–> refer

If there is low testosterone and low or normal FSH/LH then there is a HPA (hypothalmic pituitary axis) problem –> refer

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27
Q

What are testicular causes for male androgen deficiency?

(5)

A

orchitis,
cryptorchidism (one testes absent)
Androgen synthesis inhibitors
cytotoxic or radiation damage
Klienfeilter syndrome if testes are small

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28
Q

Pituitary causes for male androgen deficiency?

(6)

A

pituitary tumours
hyperprolactinaemia
pituitary surgery or radiation
iron deposition
hypophysitis (pituitary gland or infundibulum inflammation)
congenital syndromes (kallman)

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29
Q

Can GPs prescribe testosterone treatment?
When?
Is it PBS funded?

A

Essentially yes GPs can prescribe the treatment
- without an endocrinologist however having initial input, the cost will not be covered

So initially it’s best for the patient to see an endocrinologist, and can get future scripts from the GP that are subsidised.

Alternatively GPs can seek federal authority for this, in consultation with an endocrinologist over the phone.

A low testosterone is diagnosed as under 6ng/L (it was previously 8)

30
Q

What are the causes of erectile dysfunction?

A

In men < 40 mostly psychogenic

In older men 80% of the them either have diabetes, neurogenic disorders or it is due to medication. the other 20% again is psychogenic.

31
Q

In the work up for erectile dysfunction what two main groups of organic conditions are will you consider?

A
  1. Cardiovascular disease work up
    - includes diabetes
    -also kidney function
    -also Obstructive sleep apnoea
  2. Androgen deficiency work up
32
Q

Apart from cardiovascular related conditions and androgen deficiency causes, what other broad groups of causes are there for erectile dysfunction?

(5)

A
  1. Neurogenic: brain, spinal cord or autonomic nerves
  2. Drug and alcohol use: opioids and ETOH
  3. Penile disorders like fibrous plaques in peyronies disease
  4. Medications: antiandrogens, antipsychotics, antidepressants, thiazides, beta blockers
  5. other endocrine: thyroid
    - diabetes included in cardiovascular
    - hyperprolactinemia included in androgen deficiency work up
33
Q

Why do we assess exercise tolerance in men with E.D?

A

To determine their risk of death or significant morbidity from sexual exertion.

Also to determine the appropriateness of medication.

34
Q

What patient is considered high risk, low risk or undetermined risk with regards to sexual exertion, and what do you do ?

A

1 high risk, any of:
Any ACS in 2 weeks
High risk arrhythmias
Severe aortic stenosis
symptomatic hypertrophic obstructive cardiomyopathy
NYHC IV symptoms (breathless at rest)

  1. Low risk, all of:
    no MI’s in 8 weeks
    no uncontrolled HTN
    can climb 2 flights of stairs in 10 seconds
  2. Undetermined risk is someone that doesn’t meet the high risk or all of the low risk boxes. These people need an exercise stress test. If they can complete 4 minutes of the bruce treadmill test–> low risk, if not then high risk. If they cannot use a treadmill effectively (OA etc) then consider chemical stress testing.
35
Q

Management options for E.D?

A
  1. Psychologist referral
  2. Phosphodiesterase type 5 inhibitors
  3. Intracavernosal therapy
36
Q

Dosing options for PDE5i?

A

Sildenafil 50mg, orally, 1 hour before sexually activity. Dose can be adjusted from 25mg to 100mg.

Tadalafil 10mg, orally at a time before sexual activity as deemed optimal by patient. dose can be adjusted from 5mg up to 20mg. peak onset is around 2 hours.

Tadalafil can be used as a low dose daily option 2.5mg-5mg, orally daily.

37
Q

What three questions can you ask to screen for falls risk?

A
  1. Have you had 2 or more falls in the last 12 months
  2. Are you presenting following a fall
  3. Are you having difficulty with walking and balance?

If yes to any of these them complete an extensive history and examination

38
Q

When should you start screening for fracture risk?

Using what?

How often?

A

In men > 50
In women > 45

This does not mean getting a BMD, but using a tool such as

WHO fracture risk assessment
or Garvan

Do this every 12 months

39
Q

Which people are at increased risk of fractures?

What should you do

A

Men > 60 and women over 50 with any of the following:

Family history of fragility fracture
Vitamin D deficiency
Smoking
High alcohol intake > 2SD/Day
Low BMI (<20)
Recurrent falls (but not fractures)
Low levels of activity esp sitting and laying >20 hours a day (not the only accepted definition however)
Immobility (cannot do any housework)

Proceed to BMD
Consider screening for secondary causes of osteoporosis

40
Q

Which group of people are at HIGHEST fracture risk?

A

Anyone > 45 with a minimal trauma fracture

Postmenopausal women and older men with a vertebral fracture

Proceed to BMD scans and treat (irrespective of result)

Can repeat BMD every 2 or more years, only sooner in those with conditions or medications that can make it worse say using corticosteroids.

41
Q

What is the FHSQ?

And what would you use it for?

A

it is the family history screening questionnaire.

Use it when (ideally) when someone first comes into the practice -
to screen for genetic conditions that might need further/more detailed assessment assessment of their family history of cancer, heart disease or diabetes.

42
Q

Cancers, diabetes, heart disease is screened for in the FHSQ, but what genetic conditions may you consider screening for?

And generally, who would you be screening in the first instance?

A

Cystic Fibrosis - those with a family history, men with infertility/absence of a vas deferens, those from northern european or Ashkenezai Jewish backgrounds

Down Syndrome - all pregnant women (this doesn’t need a specialist)

Fragile X syndrome - in adults or children with developmental delay, those with or suspected ADHD, speech, language or behavioural problems, a female with primary ovarian insufficiency or premature menopause, adults with ataxia or balance issues, relative with a fragile X mutation .

Haemoglobinopathies - specific ethnicities - start with FBC including MCV, MCH and ferritin

HH- hereditary haemochromatosis.

FH- familial hypercholesterolemia (though this make up part of the cardiovascular screening and testing)

43
Q

What are the tell tale signs of SMA (spinal muscular atrophy) ?

A

triad of SMA is muscle atrophy, fasciculations and areflexia in a cognitively normal child.

44
Q

What doe the parents needs to know in the screening consult regarding SMA?

(spinal muscular atrophy)

A

(If they are both carriers….)

There is a 1 in 2 (50%) chance of them conceiving a child who is a carrier for spinal muscular atrophy

There is 1 in 4 (25%) chance of them conceiving a child with the condition of spinal muscular atrophy

There are options for future pregnancy to avoid the birth of an affected child such as pre-implantation genetic diagnosis

45
Q

What are the two most common causes of intellectual disability?

A
  1. Down syndrome - trisomy 21
  2. Fragile X syndrome - caused by an increase in length of the FMR1 gene on the X chromosome. Affects more females than males.
46
Q

How do you investigate for Fragile X sydrome?

A

This won’t show up in a chromosomal microarray as for Down’s Syndrome.

Have to order a Fragile X test
(looking for a FMR1 mutation)

47
Q

What are symptoms of Fragile X?

A

global developmental delay
difficulties with learning,
speech and language
problems with coordination and sensory overload
and notably a range of emotional and behavioural difficulties

Females who are premutation carriers are at increased risk of ‘fragile X associated primary ovarian insufficiency,’ aka FXPOI.
Males (females to a lesser extent) are at increased risk of Fragile X-associated tremor/ataxia syndrome (FXTAS) later in life

48
Q

When should you be screening for primary hyperaldosteronism?

(multiple answers)

A

Sustained blood pressure (BP) above 150/100 mmHg on each of three measurements obtained on different days, or
Hypertension (BP >140/90 mmHg) resistant to three conventional antihypertensive drugs (including a diuretic), or
Controlled BP (<140/90 mmHg) on four or more antihypertensive medications
Hypertension and spontaneous or diuretic-induced hypokalaemia
Hypertension and adrenal incidentaloma
Hypertension and sleep apnoea
Hypertension and a family history of early-onset hypertension or cerebrovascular accident at a young age (<40 years)
All hypertensive first-degree relatives of a patient with primary aldosteronism

49
Q

What are the cut off marks for diagnosing high blood pressure in different methods/settings?

A

In clinic >140/90

24 hour average of Ambulatory BP monitor >130/80

Home BP >135/85

Remember subsequent CVD risk and treatment is based on Clinic readings.

Ideally diagnosis

49
Q

What are the cut off marks for diagnosing high blood pressure in different methods/settings?

A

In clinic >140/90

24 hour average of Ambulatory BP monitor >130/80

Home BP >135/85

Remember subsequent CVD risk and treatment is based on Clinic readings.

Ideally diagnosis is based on two readings seperated by at least a week

50
Q

Who should proceed to investigations for secondary hypertension?

A

Aged under 40
Abrupt onset of hypertension
Abrupt worsening of hypertension (that was previously controlled)
Hypertensive urgency/emergency
Resistant hypertension (BP>140/90 despite the use of three different agents)
Target organ damage disproportionate to hypertension severity
Family history of early on-set hypertension, stroke before 40 or primary hyperaldosteronism
Clinical cues:
hypokalemia
Higher than expected increase in serum creatinine (>20%) after starting an ACEi/ARB
Paroxysmal HTN or episodes suggesting catecholamine excess.

51
Q

What can be offered to a patient when considering a screening for conditions/testing?

A

A new patient to a practice can be given a family history screening questionnaire.

Mainly looks at bowel, breast, prostate, ovarian cancers, IHD and diabetes.

52
Q

Who is high risk for developing a thrombophillia i.e. who might you consider testing?

A

DVT <50 yrs

Spontaneous thrombosis in absence of recognised risk factors

Recurrent thrombosis

Family history of thrombosis

Thrombosis in unusual sites e.g. CNS, abdominal veins, upper limb

Stillbirth or fetal death in utero

53
Q

What makes up a thrombophilia screen, and who gets an MBS rebate?

(6)
(2)

A

Part A
-factor V Leiden,
-prothrombin variants,
-antithrombin III deficiency,
-protein C deficiency,
-protein S deficiency and
-activated protein C resistance

Part B
-A personal history of proven venous thromboembolism or pulmonary embolism, or
-A 1˚ relative who has a proven defect of any of the above

54
Q

Developmental delay is first screened with __(a)___ ____

But this won’t detect a __(b)___ __ condition. You will need a specific genetic test for this.

A

a. Chromosomal Microarray. Mainly looking for downs.

b. Fragile X

55
Q

Is Autism Spectrum Disorder a genetic disorder?

A

No.

It does run in families, but the inheritance pattern is not know.

There ARE some conditions that show features of ASD

56
Q

Which conditions can show features of Autisim Spectrum Disorder?

A

tuberous sclerosis (TSC1 or TSC2 genes)

Fragile X syndrome (FXS; FMR1 gene)

Chromosomal abnormalities (eg inversions, duplications)

Metabolic conditions

Rett syndrome (MECP2 gene in many cases).

57
Q

These features in a child would have you suspect what condition?

global developmental delay
difficulties with learning,
speech and language
problems with coordination and sensory overload
and notably a range of emotional and behavioural difficulties

A

Fragile X

58
Q

Is Down Syndrome hereditary?

A

No. It is not a hereditary condition in that you don’t pass down genes or predisposition for it.

It’s made by simple ‘mistake’ during meiosis.

59
Q

Who is high risk for prostate cancer?

A

Men with one or more first-degree relatives diagnosed under age 65 years

Men with a first-degree relative with familial breast cancer (BRCA1 or BRCA2)

60
Q

Is a woman with a single first degree relative that has breast cancer (diagnosed at age 57), at high risk of breast cancer?

A

No.

Even if a first degree relative was diagnosed before age 50, they are still only at moderately increased risk.

61
Q

What makes a women at MODERATE degree risk of breast cancer?

(3 conditions)

A
  1. One first degree relative < 50 diagnosed
  2. Two first degree relatives diagnosed at any age
  3. Two second degree relatives on the SAME side AND under 50 at diagnosis
62
Q

What makes a women high risk of developing breast cancer?

A

First
needs 2 more first OR second degree relatives on the SAME SIDE diagnosed at any age

AND
Secondly must have one or more of the following
1. additional relative(s) with breast or ovarian cancer
2. breast cancer diagnosed before age 40 years
bilateral breast cancer
3. breast and ovarian cancer in the same woman
4. Ashkenazi Jewish ancestry
5. breast cancer in a male relative.
6. One first or second degree relative diagnosed with breast cancer at age 45 years or younger plus another first or second degree relative on the same side of the family with sarcoma (bone/soft tissue) at age 45 years or younger
7. Member of a family in which the presence of a high-risk breast cancer gene mutation has been established

63
Q

A person with a first degree relative diagnosed with Bowel Cancer after age of 55, should get what done?

A

This person/patient is still potentially only at average risk

The recommendation here is the same as the general population

iFOBT from age 50 every 2 years.

64
Q

What makes a moderately increased risk of bowel cancer?

A
  1. First degree relative diagnosed < 55yo
  2. Two first or 1 first and 1 second degree relative diagnosed at any age
    PLUS on the same side of the family
    Diagnosed at any age.
65
Q

What should be done in a moderately versus high risk of developing colon cancer?

A
  1. for moderate- 5 yearly colonoscopies from age 50 or from 10 years younger than the diagnosis. A CT colonography could be used

2 for high risk refer to a specialist

66
Q

Who should you screen/test for HH?

Hereditary Haemochromatosis

(3)

A

Liver disease of unknown cause, including those with suspected alcoholic liver disease

all first degree relatives with haemochromatosis or with a known mutation in the HFE gene

Patients with conditions that could be a complication of HFE (diabetes mellitus, atypical arthritis, cardiomyopathy, erectile dysfunction or chronic fatigue)

67
Q

What infers an increased risk of (any) skin cancer?

A

family history of melanoma in first-degree relative

fair complexion

a tendency to burn rather than tan

presence of freckles, light eye colour, light or red hair colour

age >30 years (>50 years most at risk)

presence of solar lentigines

past history of non melanoma skin cancers (age <40 years higher risk)

people with childhood high levels of ultraviolet exposure

episodes of sunburn in childhood

68
Q

Who is at the highest risk of developing skin cancer?

How often should they be reviewed.

A

multiple atypical or dysplastic naevi and who have a history of melanoma in themselves or in a first degree relative

Review them every 3-12 months

69
Q

What key information in the family history should you elicit when considering screening for conditions that have a familial pattern ?

A

Ethnic background (ancestry and culture)

Adoption

Age at diagnosis (of whatever condition the family member may have)

Age and cause of death

Birth defects

Stillbirths and miscarriages

KFP study (31 decks)

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