Pathology 2

Question 1

Signs of endometriosis

Answer 1

chronic pelvic pain

period-related pain (dysmenorrhoea) affecting daily activities and quality of life

deep pain during or after sexual intercourse

period-related or cyclical gastrointestinal symptoms, in particular, painful bowel movements

period-related or cyclical urinary symptoms, in particular, blood in the urine or pain passing urine

infertility in association with 1 or more of the above.

Offer an abdominal and pelvic examination to women with suspected endometriosis to identify abdominal masses and pelvic signs, such as reduced organ mobility and enlargement, tender nodularity in the posterior vaginal fornix, and visible vaginal endometriotic lesions. Can then refer to specialist if pelvic signs.

Question 2

Bell’s palsy

Answer 2

Acute unilateral facial nerve weakness or paralysis of less than 72hrs to onset. Most common between 15-45. Often can be due to HSV, varicella zoster and autoimmune.

Question 3

Bell’s palsy symptoms and complications

Answer 3

Rapid onset (less than 72 hours).
Facial muscle weakness (almost always unilateral) involving the upper and lower parts of the face. This causes a reduction in movement on the affected side, often with drooping of the eyebrow and corner of the mouth and loss of the nasolabial fold.
Ear and postauricular region pain on the affected side.
Difficulty chewing, dry mouth, and changes in taste.
Incomplete eye closure, dry eye, eye pain, or excessive tearing.
Numbness or tingling of the cheek and/or mouth.
Speech articulation problems, drooling.
Hyperacusis.

Complications include eye injury, facial pain, dry mouth, intolerance to loud noises, abnormal facial muscle contraction during voluntary movements, and psychological sequelae.

Can give prednisolone

Question 4

Horner’s syndrome

Answer 4

This is a rare condition that results from disruption of the sympathetic nerves supplying the eye. There is the triad of:

Partial ptosis (upper eyelid drooping).
Miosis (pupillary constriction) leading to anisocoria (difference in size of the pupils).
Hemifacial anhidrosis (absence of sweating).

Question 5

Signs and symptoms of Horner’s syndrome

Answer 5

Inability to open eye fully on the affected side.
Loss of sweating on the affected side.
Facial flushing (if preganglionic lesion).
Orbital pain/headache (if postganglionic lesion).

Constricted pupil on the affected side,
The affected pupil lags behind the other in dilation as it lacks sympathetic tone

Ipsilateral dry skin on the face due to loss of sweating:
Ipsilateral partial ptosis (drooping of the upper eyelid) with possible paradoxical contralateral eyelid retraction.
There may be apparent mild enophthalmos due to the sagging lid.
There is increased amplitude of accommodation.

Heterochromia irides may occur with congenital Horner’s syndrome. The iris on the affected side remains blue whilst the other changes to brown. Pigmentation of the iris is under sympathetic control and is usually complete by the age of 2 years

Question 6

Causes of Horner’s syndrome

Answer 6

Cerebrovascular accidents. Apical lung tumours (eg, Pancoast’s tumour). Cluster headaches or migraine.
Multiple sclerosis. Lymphadenopathy (lymphoma, leukaemia, tuberculosis, mediastinal tumours). Herpes zoster infection.
Pituitary or basal skull tumours. Lower brachial plexus trauma or cervical rib. Internal carotid artery dissection, may be traumatic.
Basal meningitis (eg, syphilis). Aneurysms of the aorta, subclavian or common carotid arteries. Raeder’s syndrome (paratrigeminal syndrome).
Neck trauma (eg, cervical vertebral dislocation or dissection of the vertebral artery). Trauma or surgical injury (neck or chest). Carotid-cavernous fistula.
Syringomyelia. Neuroblastoma. Temporal arteritis
Arnold-Chiari malformation. Mandibular dental abscess.
Spinal cord tumours.

Question 7

Brugada syndrome

Answer 7

Genetic changes in cardiac conduction due to sodium channel activity. Can result in sudden loss of consciousness, sudden cardiac death. Linked to periods of vagal activation. Arrhythmias like ventricular fibrillation and polymorphic ventricular tachycardia can occur. Also bc of fever can an arrhythmia appear in affected individuals.

Question 8

ECG signs of brugada syndrome

Answer 8

Brugada syndrome is diagnosed by identifying characteristic patterns on an electrocardiogram. The pattern seen on the ECG includes ST elevation in leads V1-V3 with a right bundle branch block (RBBB) appearance. There may be evidence of a slowing of electrical conduction within the heart, as shown by a prolonged PR interval.

Type 1 has a coved type ST elevation with at least 2 mm (0.2 mV) J-point elevation and a gradually descending ST segment followed by a negative T-wave.
Type 2 has a saddle-back pattern with at least 2 mm J-point elevation and at least 0.5 mm elevation of the terminal ST segment with a positive or biphasic T-wave. A type 2 pattern can occasionally be seen in healthy subjects.
Type 3 has a saddle-back (type 2 like) pattern, with at least 2 mm J-point elevation but less than 1 mm elevation of the terminal ST segment. A type 3 pattern is relatively common in healthy subjects and is no longer considered suggestive of Brugada syndrome.

Question 9

Treatment of Brugada syndrome

Answer 9

Implantable cardioverter defibrillator.
Can give Quinidine if have had several incidents.
Isoprenaline given in an electrical storm.
Can also give radiofrequency catheter ablation

Question 10

Acute porphyrias

Answer 10

Acute porphyrias result from deficiency of certain enzymes in the heme biosynthetic pathway, resulting in accumulation of heme precursors that cause intermittent attacks of abdominal pain and neurologic symptoms. Attacks are precipitated by certain drugs and other factors. Diagnosis is based on elevated levels of the porphyrin precursors delta-aminolevulinic acid and porphobilinogen in the urine during attacks. Attacks are treated with glucose or, if more severe, IV heme. Symptomatic treatment, including analgesia, is given as necessary.

Types:
Acute intermittent porphyria (AIP)
Variegate porphyria (VP)
Hereditary coproporphyria (HCP)
Delta-aminolevulinic acid dehydratase (ALAD)–deficiency porphyria (exceedingly rare)

Urine screen for porphobilinogen (PBG)
If urine results are positive, quantitative urinary ALA and PBG determination
For confirmation of acute intermittent porphyria, measurement of PBG deaminase activity in erythrocytes
Genetic analysis if type is to be identified

Question 11

Symptoms of acute porphyrias

Answer 11

Symptoms and signs of acute porphyrias involve the nervous system, abdomen, or both (neurovisceral).

If symptomatic, can have fragile skin and bullous eruptions, constipation, fatigue, headache, back or thigh pain, paresthesia, tachycardia, dyspnea, insomnia, depression, anxiety or other disturbances of mood, seizures.

Haem arginate is administered by short intravenous infusion as haem replacement in moderate, severe, or unremitting acute porphyria crises.

Question 12

Acute porphyric attack

Answer 12

Constipation, fatigue, mental status changes (often described as “fogginess”), and insomnia typically precede an acute attack. The most common symptoms of an attack are abdominal pain and vomiting. The pain may be excruciating and is disproportionate to abdominal tenderness or other physical signs. Abdominal manifestations may result from effects on visceral nerves. Usually, there is no inflammation, the abdomen is not tender, and there are no peritoneal signs. However, a minority of patients with acute hepatic porphyrias also develop acute pancreatitis , for which alternative potential causes, such as gallstones, excess alcohol use, and severe hypertriglyceridemia, are not found. Temperature and white blood cell count are usually normal or only slightly increased. Bowel distention may develop as a result of paralytic ileus. The urine is red or reddish brown and positive for porphobilinogen during an attack.

Question 13

Amyloidosis

Answer 13

Amyloid fibrils build up in tissues. There are several types with varying symptoms; signs and symptoms may include diarrhea, weight loss, feeling tired, enlargement of the tongue, bleeding, numbness, feeling faint with standing, swelling of the legs, or enlargement of the spleen.

Usual onset is 55-65 years old. Can get white spots on skin called amyloidosis cutis dyschromica.

High dose melphalan, a chemotherapy agent, followed by stem cell transplantation if viable, dexamethasone.

Question 14

Prolactinoma

Answer 14

It is the most common type of functioning pituitary tumor. Symptoms of prolactinoma are due to too much prolactin in the blood (hyperprolactinemia), or those caused by pressure of the tumor on surrounding tissues.

Will be given an inhibitor like bromocriptine before surgery.

Question 15

Prolactinoma symptoms

Answer 15

Those that are caused by increased prolactin levels are:

Amenorrhea (disappearance of ovulation periods)
Galactorrhea (Milk production; infrequent in men)
Loss of axillary and pubic hair
Hypogonadism (Reduced function of the gonads.)
Gynecomastia (an increase in male breast size)
Erectile dysfunction (in males)
Those that are caused by mass effect are:

Headaches
Vision Changes-visual field deficits, blurred vision, decreased visual acuity
Cranial nerve palsies-especially with invasive tumors or with pituitary apoplexy
Seizures, Hydrocephalus, Unilateral exophthalmos are rare presentations
Pituitary apoplexy is a medical emergency because of spontaneous hemorrhage into the pituitary tumor and presents with severe headaches, vision changes, and panhypopituitarism

Question 16

Osteomyelitis

Answer 16

Osteomyelitis (OM) is an infection of bone. Symptoms may include pain in a specific bone with overlying redness, fever, and weakness. Sometimes lymphoedema. The long bones of the arms and legs are most commonly involved in children e.g. the femur and humerus, while the feet, spine, and hips are most commonly involved in adults.

Risks for developing osteomyelitis include diabetes, intravenous drug use, prior removal of the spleen, and trauma to the area.

Caused by systemic infection, trauma infection, cellulitis.

Osteomyelitis often requires prolonged antibiotic therapy for weeks or months. A PICC line or central venous catheter can be placed for long-term intravenous medication administration.

Question 17

Sickle cell anaemia

Answer 17

It results in an abnormality in the oxygen-carrying protein haemoglobin and leads to a rigid, sickle-like shape.
Sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain (known as a sickle cell crisis), anaemia, swelling in the hands and feet, bacterial infections and stroke. Long-term pain may develop as people get older. The average life expectancy in the developed world is 40 to 60 years. Diclofenac, naproxen helps. Crizanlizumab. Penicillin and folic acid.

Attacks can be vasoocclusive leading to ischemia, pain, necrosis, risk atelectasis. This attack followed by these symptoms is acute chest syndrome: chest pain, fever, pulmonary infiltrate or focal abnormality, respiratory symptoms, or hypoxemia give quinolone. Or Splenic sequestration crisis of splenic infarction and splenomegaly with potential for hypovolaemic shock or circulatory failure. Aplastic crisis occurs with parvovirus b19 infections reducing reticulocytes .

Question 18

Shingles

Answer 18

Rash that results from reactivation of the varicella-zoster virus, the virus that causes chickenpox in the first infection.

During chickenpox, the virus spreads in the bloodstream and infects collections of nerve cells (ganglia) of the spinal or cranial nerves. The virus remains in the ganglia in an inactive (dormant or latent) state. When it reactivates, the virus travels down the nerve fibers to the skin, where it creates painful sores resembling those of chickenpox. This outbreak of sores (shingles) almost always appears on a strip of the skin over the infected nerve fibers and only on one side of the body.

Tingling appears 2-3 days after infection or reactivation. Blisters form for another 3-5 days. After this they scab.

Complications include herpes zoster ophthalmicus, herpes zoster oticus/ Ramsay Hunt syndrome and postherpetic neuralgia.

Sometimes use famciclovir or valacyclovir.

Question 19

Acute bronchiolitis

Answer 19

Viral infection (often RSV) of small airways leading to their blockage. Usually affects children under two and show hilar lymphadenopathy on xray.

Symptoms include fever, cough, runny nose, wheezing and breathing problems. Treatment is systemic and supportive like nebulised hypertonic saline and O2 if needed.

Question 20

Obliterative bronchiolitis

Answer 20

A disease that results in obstruction of the smallest airways of the lungs (bronchioles) due to inflammation.

Symptoms include a dry cough, shortness of breath, wheezing and feeling tired progressing over weeks. It is not related to cryptogenic organizing pneumonia.

Causes include toxic fumes, respiratory infections, connective tissue disorders or after a marrow or heart transplant.

Resp infections in children: adenovirus or measles (swyer-james syndrome), mycoplasma, CMV, influenza. and SJS.

Question 21

Dengue fever

Answer 21

Aedes mosquito transmitted disease that appears 3-14 days after infection with Dengue virus.

Symptoms include high fever, headache, vomiting, myalgia and rash. If bad can become hemorrhagic with low platelets and plasma leaking. Packed rbc/full transfusion sometimes needed.

Question 22

Hansen’s disease/leprosy

Answer 22

Infection by the bacteria Mycobacterium leprae. Infection can lead to damage of the nerves, respiratory tract, skin, and eyes. This nerve damage may result in a lack of ability to feel pain and distal sensation. An infected person may also experience muscle weakness and poor eyesight. Leprosy symptoms may begin within one year, but, for some people, symptoms may take 20 years or more to occur.

Leprosy is spread between people, although extensive contact is necessary .Leprosy has a low pathogenicity, and 95% of people who contract M. leprae do not develop the disease.

Discolored patches of skin, usually flat, that may be numb and look faded (lighter than the skin around)
Growths (nodules) on the skin.
Thick, stiff or dry skin.
Painless ulcers on the soles of feet.
Painless swelling or lumps on the face or earlobes.
Loss of eyebrows or eyelashes.
Degraded fingers and toes from cartilage absorption.

Treatments include Rifampicin, dapsone and clofazimine.

Question 23

Mumps

Answer 23

Mumps is a viral disease caused by the mumps virus. Initial symptoms are non-specific and include fever, headache, malaise, muscle pain, and loss of appetite. These symptoms are usually followed by painful swelling of the parotid glands, called parotitis, which is the most common symptom of infection. Symptoms typically occur 16 to 18 days after exposure to the virus and resolve within two weeks.

Question 24

Measles

Answer 24

Measles is a highly contagious infectious disease caused by measles virus. Symptoms usually develop 10–12 days after exposure to an infected person and last 7–10 days.

Initial symptoms typically include fever, often greater than 40 °C (104 °F), cough, runny nose, and inflamed eyes. Small white spots known as Koplik’s spots may form inside the mouth two or three days after the start of symptoms. A red, flat rash which usually starts on the face and then spreads to the rest of the body typically begins three to five days after the start of symptoms.

Common complications include diarrhoea (in 8% of cases), middle ear infection (7%), and pneumonia (6%). These occur in part due to measles-induced immunosuppression. Less commonly seizures, blindness, or inflammation of the brain may occur

Question 25

Brucellosis

Answer 25

Animal transmitted bacteria Brucella (melitensis most common) gram negative rod cocci. Symptoms include profuse sweating and joint and muscle pain. Can get granulomatous hepatitis and necrosis.

Treatments include IM streptomycin and PO doxycycline for 14 and 45 days. Gentamycin for 7 days if streptomycin cant be given.

Question 26

Henoch–Schönlein purpura

Answer 26

IgA vasculitis, is a disease of the skin, mucous membranes, and sometimes other organs that most commonly affects children.

In the skin, the disease causes palpable purpura (small, raised areas of bleeding underneath the skin), often with joint pain and abdominal pain. With kidney involvement, there may be a loss of small amounts of blood and protein in the urine (hematuria and proteinuria), but this usually goes unnoticed; in a small proportion of cases, the kidney involvement proceeds to chronic kidney disease. HSP is often preceded by an infection, such as a throat infection.

Question 27

Anthrax

Answer 27

Anthrax is an infection caused by the bacterium Bacillus anthracis. It can occur in four forms: skin, lungs, intestinal and injection. Symptom onset occurs between one day and more than two months after the infection is contracted.

The skin form presents with a small blister with surrounding swelling that often turns into a painless ulcer with a black center. The inhalation form presents with fever, chest pain and shortness of breath. The intestinal form presents with diarrhea, which may contain blood, abdominal pains, nausea and vomiting. The injection form presents with fever and an abscess at the site of drug injection.

Treatments include ciprofloxacin, doxycycline, and penicillin.

Question 28

Histoplasmosis

Answer 28

Fungal infection affecting the lungs. Common in those with AIDs.

Question 29

Diphtheria

Answer 29

Diphtheria is an infection caused by the bacterium Corynebacterium diphtheriae. Symptoms include sore throat, fever, barking cough. Symptoms appear 2-5 days after exposure.

Give erythromycin or benzylpenicillin. sometimes tracheostomy if complicates airway.

Question 30

Typhoid fever

Answer 30

Caused by GI infection orofaecal/contaminated food and water of salmonella typhi.

Symptoms include gradual onset high fever, weakness, abdominal pain, constipation, headaches, vomiting. Diarrhoea is uncommon. Usually 1-2 weeks onset then revolves after 7-10 days.

Treatments include supportive care, azithromycin, fluoroquinolones or 3rd gen cephalosporins.

Question 31

Ascariasis

Answer 31

Ascariasis is a disease caused by the parasitic roundworm Ascaris lumbricoides. Infections have no symptoms in more than 85% of cases. Symptoms increase with the number of worms present and may include shortness of breath and fever in the beginning of the disease. These may be followed by symptoms of abdominal swelling, abdominal pain, and diarrhoea.

Children are most commonly affected, and in this age group the infection may also cause poor weight gain, malnutrition, and learning problems.

Infection occurs by eating food or drink contaminated with Ascaris eggs from faeces. The eggs hatch in the intestines, the larvae burrow through the gut wall, and migrate to the lungs via the blood. There they break into the alveoli and pass up the trachea, where they are coughed up and may be swallowed. The larvae then pass through the stomach for a second time into the intestine, where they become adult worms.

Treatment is albendazole.

Question 32

Chancroid

Answer 32

Bacterial STI presenting as a sore/ulcer from direct contact.

Ranges in size dramatically from 3 to 50 mm
Is painful
Has sharply defined, undermined borders
Has irregular or ragged borders, described as saucer-shaped.
Has a base that is covered with a grey or yellowish-grey material
Has a base that bleeds easily if traumatized or scraped
painful swollen (inguinal) lymph nodes occurs in 30 to 60% of patients.
dysuria (pain with urination) and dyspareunia (pain with intercourse) in females

Can appear with multiple ulcers. Needs differentiating from the hard chancre of primary syphilis.

Macrolide azithromycin PO and ceftriaxone IM once then 7 days of erythromycin/ 3 days of ciprofloxacin.

Question 33

Q fever

Answer 33

Q fever or query fever is a disease caused by infection with Coxiella burnetii. Comes from cell inhalation or fluid of animals. Incubation period 2-3 weeks.

Symptoms include signs of flu like fever, fatigue, sweating, myalgia, joint pain, dry cough, pleuritic pain, chills, confusion, GI symptoms. Can progress to atypical pneumonia. Even less common can give granulomatous hepatitis.

Treatment is doxycycline, add hydroxychloroquine if is chronic.

Question 34

Cellulitis

Answer 34

A spreading bacterial infection of the skin and the tissues immediately beneath the skin.
This infection is most often caused by streptococci or staphylococci. Staph is more likely to show skin abscesses.

Redness, pain, and tenderness are felt over an area of skin, the skin often feels warm to the touch, and some people have a fever, chills, and other more serious symptoms.

Treatments include dicloxacillin or cephalexin. If MRSA use doxycycline. Abscesses should be drained. Advise compression stockings and avoiding cuts. Symptoms can get worse before they get better due to tissue damage.

Question 35

Yellow fever

Answer 35

Flavivirus spread by aedes aegypti mosquito in tropics. Symptoms include fever, chills, muscle pain, headache, jaundice, back pain.

Treatment is supportive.

Question 36

Ringworm

Answer 36

Fungal infection spread via direct human contact, fabrics, animals. Shows as a round red inflammed circle with a paler center, often looks like a ring that grows. Can be itchy and inflammed. Treatments include terbinafine or miconazole.

Question 37

Impetigo

Answer 37

Group A Streptococcus and Staphylococcus aureus infection of the skin starting with sores on hands and/or face. More common in children.

Causes red sores or blisters that burst and leave crusty yellow-brown patches, sometimes itchy and painful. Refer if bullous/blisters and often given flucloxacillin or clarithromycin (eryth if pregnant). Non blistering- prescribe hydrogen peroxide 1% or fusidic acid.

Question 38

Takotsubo stress cardiomyopathy

Answer 38

When the heart muscle becomes suddenly stunned or weakened. It mostly occurs following severe emotional or physical stress. The condition is temporary and most people recover within two months.

Physical stressors include sepsis, shock, pheochromocytoma. Decreased contractibility and constricting coronary arteries impairs output.

The typical presentation of takotsubo cardiomyopathy is chest pain with or without shortness of breath and associated electrocardiogram (ECG) changes mimicking a myocardial infarction of the anterior wall.

A bulging out of the left ventricular apex with a hypercontractile base of the left ventricle is often noted.

ACE or ARBs if acute attack.

Question 39

Erythropoietic Protoporphyria

Answer 39

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene. Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. Some patients with symptoms of EPP have a genetic change in a different gene called ALAS2. When a patient has a genetic change in this gene, the condition is referred to as X-linked protoporphyria (XLP).

The major symptoms of these disorders is severe pain on exposure to sunlight and some types of artificial light, such as fluorescent lights (phototoxicity). On sun exposure, patients may first experience tingling, itching, burning of the skin. After continued exposure to light, the skin may become red and swollen. The hands, arms, and face are the most commonly affected areas. Some people with EPP/XLP may also have complications related to liver and gallbladder function.