Disease summaries

Question 1

Key features of eosinophilic granulomatosis with polyangiitis

Answer 1

Sx - fever, malaise and cough
Bloods - raised WCC inc. eosinophils
CXR - Lung infiltrates
Fact - can be triggered by Montelukast

Question 2

Key features of granulomatosis with polyangiitis

Answer 2

URTI Sx - epistaxis, sinusitis, coryzal Sx, nose deformity

Question 3

Key features of Anti-GBM disease

Answer 3

Affects both kidneys and lungs (rare for lungs alone to be affected)
Sx - haemoptysis, chest pain +/- haematuria

Question 4

Key features of pulmonary artery HTN

Answer 4

Progressive exertional dyspnoea, syncope, chest pain, peripheral oedema or cyanosis.
O/E - loud P2, raised JVP with ‘a’ wave, tricuspid regurg
Mean Pulmonary Arterial pressure >25 (confirmed with cardiac catherisation)

Question 5

Pathology and causes of neurogenic diabetes insipidus

Answer 5

Reduced vasopressin/ADH secretion
Causes: pituitary adenoma, Sheehan’s syndrome, sarcoidosis, haemochromatosis

Question 6

Pathology and causes of nephrogenic diabetes insipidus

Answer 6

Issues with ADH binding to receptors
Causes: hypercalaemia, low potassium, lithium, CKD, amyloidosis, post-obstructive uropathy

Question 7

Diagnosing diabetes insipidus

Answer 7

> 3Ls of urine production in 24 hours
Urine osmolality after 8hrs water deprivation - <300
Urine osmolality after desmopressin:
- Nephrogenic - <300
- Neurogenic - >800

Question 8

Diagnosing primary polydipsia

Answer 8

Serum osmolality low originally
Urine osmolality >600 after 8 hours
Urine osmolality after desmopressin >600

Question 9

Skin biopsy findings of bullous pemphigoid and treatment

Answer 9

Skin biopsy - immunofluorescence shows IgG and C3 at the dermoepidermal junction.

Oral corticosteroids are the mainstay of treatment
topical corticosteroids, immunosuppressants and Abx are also used

Question 10

Which disease presents with a herald patch and which virus is linked to it

Answer 10

Pityriasis rosea
HHV 6 & 7

Question 11

Which infection does HHV 2 cause?

Answer 11

aka herpes simplex virus
Oral +/- genital herpes

Question 12

Which infection does HHV3 cause?

Answer 12

aka Varicella Zoster virus
Chicken pox and shingles

Question 13

Which infection does HHV4 cause?

Answer 13

Epstein-Barr virus

Question 14

Features of PMR

Answer 14

Aching, morning stiffness in proximal limb muscles
Mild polyarthralgia, lethargy, depression, low-grade fever, anorexia, night sweats
Raised inflammatory markers e.g. ESR > 40 mm/hr
Tx with Pred

Question 15

What is the worst prognostic sign in a patient with HOCM

Answer 15

Septal wall thickness >3cm on ECHO
Syncope
FHx of sudden death
Young age at presentation
non-sustained ventricular tachycardia on 24/48hr Holter monitoring
abnormal blood pressure changes on exercise

Question 16

Features of oculogyric crises and treatment

Answer 16

restlessness
agitation
involuntary upward deviation of the eyes

IV antimuscarinic: benztropine or procyclidine

Question 17

Causes of oculogyric crises and treatment

Answer 17

antipsychotics
metoclopramide
postencephalitic Parkinson’s disease

IV antimuscarinic: benztropine or procyclidine

Question 18

Which valve defect causes ejection systolic murmur, loudest in inspiration

Answer 18

Pulmonary stenosis

Question 19

HLA matching priority in transplants - A, B and DR

Answer 19

DR is the most important HLA antigen to match in renal transplant with graft loss in the first 6 months of transplantation if a match is not present.

Antigen B is the second most important. If a match is not present, graft loss occurs within 2 years of transplantation

HLA-A is the third most important antigen to match and is responsible for long-term graft survival.

Question 20

Complications of coeliac’s disease

Answer 20

anaemia: iron, folate and vitamin B12 deficiency
hyposplenism
osteoporosis, osteomalacia
lactose intolerance
enteropathy-associated T-cell lymphoma of small intestine
subfertility, unfavourable pregnancy outcomes
rare: oesophageal cancer, other malignancies

Question 21

Which nerve is affected in Ramsey Hunt Syndrome and which virus

Answer 21

Reactivation of the varicella zoster virus in the geniculate ganglion of the seventh cranial nerve.

Question 22

Types and Inheritance of Von Willebrands disease

Answer 22

type 1: partial reduction in vWF (80% of patients) (autosomal dominant)
type 2*: abnormal form of vWF (autosomal dominant)
type 3**: total lack of vWF (autosomal recessive)

Question 23

Presentation of botulism

Answer 23

flaccid paralysis
diplopia
ataxia
bulbar palsy

Question 24

Cause of botulism

Answer 24

Clostridium botulinum - produces botulinum toxin, a neurotoxin which irreversibly blocks the release of acetylcholine

IVDU or eating contaminated food (e.g. tinned)

Tx - botulism antitoxin and supportive care

Question 25

Presentation and bloods of alcoholic hepatitis

Answer 25

fatigue, malaise, jaundice
tender hepatomegaly

hyperbilirubinemia, transaminitis with AST > ALT, leucocytosis and raised CRP

Question 26

Causes of papillary necrosis

Answer 26

chronic analgesia use
sickle cell disease
TB
acute pyelonephritis
diabetes mellitus

Question 27

Stages of presentation of yellow fever

Answer 27

1. flu like illness
2. brief remission
3. jaundice and haematemesis

Question 28

Causes of hypokalaemia with hypertension

Answer 28

Cushing’s syndrome
Conn’s syndrome (primary hyperaldosteronism)
Liddle’s syndrome
11-beta hydroxylase deficiency*

Question 29

Inheritance of hereditary spherocytosis

Answer 29

autosomal dominant defect of red blood cell cytoskeleton

Question 30

Features of Cor Pulmonale

Answer 30

peripheral oedema
raised JVP
systolic parasternal heave, loud P2

Question 31

Features of lithium toxicity

Answer 31

coarse tremor (a fine tremor is seen in therapeutic levels)
hyperreflexia
acute confusion
polyuria
seizure
coma

Question 32

Protein quantities in exudative vs transudative pleural effusion

Answer 32

Exudates have a protein level of >30 g/L
Transudates have a protein level of <30 g/L

Question 33

Extra-renal features of autosomal dominant polycystic kidney disease (ADPKD)

Answer 33

Hepatic cysts which manifest as hepatomegaly
Diverticulosis
Intracranial aneurysms
Ovarian cysts

Question 34

What causes Lambert-Eaton myasthenic syndrome (LEMS)

Answer 34

Autoimmune disorder of the neuromuscular junction due to Antibodies against the voltage-gated calcium channels - anti-VGCC antibodies
Commonly found as a paraneoplastic disorder e.g. small cell lung cancer

Question 35

How does Lambert-Eaton myasthenic syndrome present

Answer 35

gradual weakness, dry mouth and impotence
as well as Sx of associated malignancy

Question 36

Presentation of Cushing’s syndrome

Answer 36

Hypertension, proximal muscle weakness, hyperglycaemia and hypokalaemia

Question 37

ACTH dependent causes of Cushing’s syndrome

Answer 37

ACTH secreting pituitary tumour (80%) - leads to adrenal hyperplasia
Ectopic production of ACTH e.g. small cell lung cancer (5-10%)

Question 38

ACTH independent causes of Cushing’s syndrome

Answer 38

iatrogenic: steroids
adrenal adenoma (5-10%)
adrenal carcinoma (rare)
Carney complex: syndrome including cardiac myxoma
micronodular adrenal dysplasia (very rare)

Question 39

Genetics of alpha-1 antitrypsin deficiency

Answer 39

located on chromosome 14
inherited in an autosomal recessive / co-dominant fashion*
alleles classified by their electrophoretic mobility - M for normal, S for slow, and Z for very slow
normal: PiMM
heterozygous: PiMZ = no disease acitivty
homozygous PiSS: 50% normal A1AT levels
homozygous PiZZ: 10% normal A1AT levels = manifest disease Sx

Question 40

How are alleles classified to determine disease Sx

Answer 40

M = normal , S = Slow and Z = very slow

Normal = PiMM
Heterozygous = PiMZ
Homozygous = PiSS
Homozygous = PiZZ