Disease summaries Flashcards
Key features of eosinophilic granulomatosis with polyangiitis
Sx - fever, malaise and cough
Bloods - raised WCC inc. eosinophils
CXR - Lung infiltrates
Fact - can be triggered by Montelukast
Key features of granulomatosis with polyangiitis
URTI Sx - epistaxis, sinusitis, coryzal Sx, nose deformity
Key features of Anti-GBM disease
Affects both kidneys and lungs (rare for lungs alone to be affected)
Sx - haemoptysis, chest pain +/- haematuria
Key features of pulmonary artery HTN
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)
Pathology and causes of neurogenic diabetes insipidus
Reduced vasopressin/ADH secretion
Causes: pituitary adenoma, Sheehan’s syndrome, sarcoidosis, haemochromatosis
Pathology and causes of nephrogenic diabetes insipidus
Issues with ADH binding to receptors
Causes: hypercalaemia, low potassium, lithium, CKD, amyloidosis, post-obstructive uropathy
Diagnosing diabetes insipidus
> 3Ls of urine production in 24 hours
Urine osmolality after 8hrs water deprivation - <300
Urine osmolality after desmopressin:
- Nephrogenic - <300
- Neurogenic - >800
Diagnosing primary polydipsia
Serum osmolality low originally
Urine osmolality >600 after 8 hours
Urine osmolality after desmopressin >600
Skin biopsy findings of bullous pemphigoid and treatment
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
Which disease presents with a herald patch and which virus is linked to it
Pityriasis rosea
HHV 6 & 7
Which infection does HHV 2 cause?
aka herpes simplex virus
Oral +/- genital herpes
Which infection does HHV3 cause?
aka Varicella Zoster virus
Chicken pox and shingles
Which infection does HHV4 cause?
Epstein-Barr virus
Features of PMR
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
What is the worst prognostic sign in a patient with HOCM
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
Features of oculogyric crises and treatment
restlessness
agitation
involuntary upward deviation of the eyes
IV antimuscarinic: benztropine or procyclidine
Causes of oculogyric crises and treatment
antipsychotics
metoclopramide
postencephalitic Parkinson’s disease
IV antimuscarinic: benztropine or procyclidine
Which valve defect causes ejection systolic murmur, loudest in inspiration
Pulmonary stenosis
HLA matching priority in transplants - A, B and DR
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.
Complications of coeliac’s disease
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
Which nerve is affected in Ramsey Hunt Syndrome and which virus
Reactivation of the varicella zoster virus in the geniculate ganglion of the seventh cranial nerve.
Types and Inheritance of Von Willebrands disease
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)
Presentation of botulism
flaccid paralysis
diplopia
ataxia
bulbar palsy
Cause of botulism
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
Presentation and bloods of alcoholic hepatitis
fatigue, malaise, jaundice
tender hepatomegaly
hyperbilirubinemia, transaminitis with AST > ALT, leucocytosis and raised CRP
Causes of papillary necrosis
chronic analgesia use
sickle cell disease
TB
acute pyelonephritis
diabetes mellitus
Stages of presentation of yellow fever
- flu like illness
- brief remission
- jaundice and haematemesis
Causes of hypokalaemia with hypertension
Cushing’s syndrome
Conn’s syndrome (primary hyperaldosteronism)
Liddle’s syndrome
11-beta hydroxylase deficiency*
Inheritance of hereditary spherocytosis
autosomal dominant defect of red blood cell cytoskeleton
Features of Cor Pulmonale
peripheral oedema
raised JVP
systolic parasternal heave, loud P2
Features of lithium toxicity
coarse tremor (a fine tremor is seen in therapeutic levels)
hyperreflexia
acute confusion
polyuria
seizure
coma
Protein quantities in exudative vs transudative pleural effusion
Exudates have a protein level of >30 g/L
Transudates have a protein level of <30 g/L
Extra-renal features of autosomal dominant polycystic kidney disease (ADPKD)
Hepatic cysts which manifest as hepatomegaly
Diverticulosis
Intracranial aneurysms
Ovarian cysts
What causes Lambert-Eaton myasthenic syndrome (LEMS)
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
How does Lambert-Eaton myasthenic syndrome present
gradual weakness, dry mouth and impotence
as well as Sx of associated malignancy
Presentation of Cushing’s syndrome
Hypertension, proximal muscle weakness, hyperglycaemia and hypokalaemia
ACTH dependent causes of Cushing’s syndrome
ACTH secreting pituitary tumour (80%) - leads to adrenal hyperplasia
Ectopic production of ACTH e.g. small cell lung cancer (5-10%)
ACTH independent causes of Cushing’s syndrome
iatrogenic: steroids
adrenal adenoma (5-10%)
adrenal carcinoma (rare)
Carney complex: syndrome including cardiac myxoma
micronodular adrenal dysplasia (very rare)
Genetics of alpha-1 antitrypsin deficiency
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
How are alleles classified to determine disease Sx
M = normal , S = Slow and Z = very slow
Normal = PiMM
Heterozygous = PiMZ
Homozygous = PiSS
Homozygous = PiZZ
