Potential Questions Flashcards
Which joint is most commonly affected in gout?
1st Metatarsophalangeal Joint
A 6 month old boy presents with developmental delay and hyperuricaemia. At 1 year, he begins to exhibit choreiform movements and regularly bites his lip. What is the most likely diagnosis?
Lesch-Nyhan Syndrome
X-Linked Recessive deficiency in HPRT
An alcoholic presents with a painful 1st metatarsophalangeal joint. The joint is aspirated, and needle shaped crystals which are negatively birefringent are seen under polarising light. What is the most likely diagnosis, and what is the most likely chemical composition of the crystals?
Gout
Monosodium Urate
A man presents with an acutely painful left knee. The joint is aspirated, and rhomboid shaped positively birefringent crystals are seen under polarising light. What is the most likely diagnosis and what is the most likely chemical composition of the crystals?
Pseudogout
Calcium Pyrophosphate
List 2 drugs which may be used in acute gout management.
NSAIDs
Colchicine
A man is diagnosed with gout, and is prescribed a xanthine oxidase inhibitor to aid with reducing urate synthesis. Which drug was he most likely prescribed?
Allopurinol
A woman presents with corneal arcus and tendon xanthomata at a young age. Her older brother experienced similar symptoms. What is the most likely diagnosis?
Familial Hypercholesterolaemia
A woman is prescribed a statin. What would be the expected effect on:
a) LDLs
b) HDLs
c) Triglycerides
a) Reduction
b) Increase
c) Slight Increase
How is Gilbert’s Syndrome inherited?
Autosomal Recessive
A man presents with an episode of jaundice after not eating for 12 hours. LFTs are grossly normal. Which enzyme is likely to be defective?
UDP glucoronyl transferase
What is the most sensitive marker for testing liver function?
Prothrombin Time
What is the most common form of liver disease in the Western World?
Non-Alcoholic Fatty Liver Disease
A man presents with painless jaundice. He is later diagnosed with Pancreatic Cancer. To where is his tumour most likely to metastasise?
Liver
A young boy is flagged by teachers as having difficulty with basic learning in school. On further investigation, he is found to have high serum levels of phenylalanine. What is the most likely diagnosis, and which enzyme is he deficient in?
Phenylketonuria
Phenylalanine Hydroxylase
What is the most common pathogenesis behind Congenital Hypothyroidism?
Thyroid Agenesis
How is Cystic Fibrosis screened for?
Measure serum Immune Reactive Trypsinogen levels.
A child presents with vomiting, a respiratory alkalosis and seizures. On examination, he is found to have high serum levels of ammonia. Which class of disease is he most likely to be suffering from?
Urea Cycle Disorders
A child presents with vomiting, seizures and loss of consciousness. Their medical history is unremarkable, however their Mother reports giving them 2 aspirin tablets for a headache yesterday evening. What is the most likely diagnosis?
Reye Syndrome
A neonate is found to be hyponatraemic. What is the most likely cause?
Congenital Adrenal Hyperplasia
Which enzyme is most likely to be deficient in a neonate presenting with congenital adrenal hyperplasisa?
21-Hydroxylase
What is the most common type of Porphyria?
Porphyria Cutanea Tarda
A child is diagnosed with a Porphyria. What is the most likely diagnosis?
Erythropoietic Protoporphyria
A young woman presents with abdominal pain, constipation palpitations and a recent seizure. She has just returned from a holiday with her friends where she drank a lot of alcohol. Her father has experienced similar attacks. What is the most likely diagnosis?
Acute Intermittent Porphyria
Autosomal Dominant, only presents with neurovisceral symptoms
A young woman presents with a potential case of acute intermittent porphyria. Which investigation may be most helpful in coming to a diagnosis?
Increased urinary PBG
How does pregnancy affect Thyroid function?
hCG levels can stimulate a slight increase in free T4
A woman presents with palpitations, weight loss and a tremor. She reports a viral upper respiratory tract infection 2 weeks ago. Radio-iodine uptake is low across the thyroid gland. What is the most likely diagnosis?
De Quervain’s Thyroiditis
A patient has a total thyroidectomy for medullary thyroid cancer. List two markers that may be used to assess disease recurrence.
Calcitonin
Carcinoembryonic Antigen
In which forms does calcium exist in the plasma?
Free, ionised - 50%
Bound to Albumin - 40%
Complexed - 10%
How is corrected calcium calculated?
Serum Calcium + (0.02 x (40 - serum albumin g/L))
What is the rate limiting enzyme in Vitamin D activation?
1-alpha-hydroxylase
A man presents with symptoms of hypercalcaemia. Non-caseating granulomas are seen on chest x-ray. What is the likely diagnosis, and pathophysiology behind the hypercalcaemia?
Sarcoidosis
Sarcoid lung cells express 1-alpha-hydroxylase, hence lead to more production of activated Vitamin D
A lady presents with osteomalacia secondary to Vitamin D deficiency. Her medical history is remarkable for one, long term, well controlled condition. Which class of drugs are most likely to have contributed to her deficiency?
Anti-convulsants
A life-long smoker presents with a worsening history of cough, weight loss, constipation and confusion. He is found to be hypercalcaemic. What is the most likely diagnosis and pathophysiology behind the raised calcium?
Small Cell Lung Cancer
Ectopic PTHrP release
A man is found to have hypercalcaemia secondary to malignancy. How would he be managed?
Lots of fluids
Bisphosphonates
Treat the underlying cause
A woman is found to be hyponatraemic. She is clinically hypovolaemic. List three potential causes of her electrolyte abnormality.
Diarrhoea/Vomiting
Diuretics
Salt-Losing Nephropathy
A woman is found to be hyponatraemic. She is clinically euvolaemic. List 3 potential causes of her electrolyte abnormality.
Adrenal Insufficiency
Hypothyroidism
SIADH
A woman is found to be hyponatraemic. Clinically, she is hypervolaemic. List 3 potential causes of her electrolyte abnormality.
Cirrhosis
Cardiac Failure
Nephrotic Syndrome
A man presents with euvolaemic hyponatraemia. All endocrine screening is normal. What is the most likely diagnosis, and how would this be investigated?
SIADH
Low plasma osmolality
High urine osmolality
A man complains of pain in all 4 limbs and joint pain. Soon after, he has a seizure, and falls into a coma. He was in hospital being treated for hyponatraemia secondary to SIADH. What is the most likely diagnosis?
Central Pontine Myelinolysis due to rapidly corrected hyponatraemia.
A man presents with hyperkalaemia. How would he be managed in the first instance?
10ml 10% Calcium Gluconate
50ml 50% Dextrose
10 U Insulin
Nebulised Salbutamol
How would you calculate Osmolality?
2(Na + K) + Urea + Glucose
A patient is found to be in a hyperglycaemic hyperosmolar state. Why must you take care in giving lots of fluids to this patient?
May lead to Cerebral Oedema
A man presents with hypertension, and is found to have an adrenal mass. List 3 potential diagnoses.
Conn’s Syndrome
Cushing’s Syndrome
Phaeochromocytoma
Other than blood, what may cause a urine dipstick to show positive for blood.
Myoglobin, typically from rhabdomyloysis
If a red blood cell is described as ‘polychromatic’ on blood film, what does this mean.
Bluish appearance due to taking up eosinophilic and basophilic dyes. Occurs due to the presence of reticulocytes.
A man has a diagnosis of Hereditary Spherocytosis. What would you expect to happen to his erythrocytes when added to a hypotonic saline?
Increased rate of lysis due to osmotic fragility
Which cancer is most associated with Down’s Syndrome?
AML
What feature would you expect to see on blood film of someone with Acute Myeloid leukaemia?
Auer Rods
What is the most common cause of Vitamin K deficiency?
Warfarin
How would you distinguish between platelet disorders and coagulation factor disorders clinically?
Plt -> Small, superficial bleeding from minor scratches. Petechiae
Coagulation factor -> Deep bleeding into joints, soft tissues and muscles
List two treatments that may be used for Immune thrombocytopaenic Purpura.
Steroids
IVIG (If severe)
What is the most common cause of Disseminated Intravascular Coagulation?
Sepsis
A man presents with headaches, visual disturbance and itching after having a hot shower. On examination, he has splenomegaly. What is the likely diagnosis?
Polycythaemia Vera
A man has a bone marrow biopsy which shows increased erythroid cellularity, slight reticulin fibrosis and megakaryocyte abnormalities. What is the most likely diagnosis?
Polycythaemia Vera
Which mutation is commonly associated, and can be diagnostic of, myeloproliferative disorders?
JAK2 V617F
A patient presents with an isolated erythrocytosis, with a low serum erythropoietin. What is the likely diagnosis, and which mutation may they have?
Idiopathic Erythrocytosis
Exon 12 Mutation
A patient is incidentally found to have a low WCC and thrombocytosis. On examination, they have hepatosplenomegaly. Bone marrow biopsy shows a dry tap. What is the likely diagnosis, and what might you see on blood film?
Myelofibrosis
Leukoerythroblastic picture with ‘Tear Drop’ Poikilocytes
Which cancers are associated with secondary polycythaemias, and why?
Liver
Renal Cell
Ectopic EPO production
Which diagnosis must you consider in a patient presenting with Micro-angiopathic haemolytic anaemia?
Adenocarcinoma
A patient is found to have a mutation in the FIP1L1-PDGFRa fusion gene. Which condition are they likely susceptible to developing?
Chronic Eosinophilic Leukaemia
A patient presents with a rash and coryzal symptoms. They are found to have a basophilia on blood film. Which class of virus are they most likely to be infected with?
Poxviruses
What percentage of hospital deaths are caused by Pulmonary Emboli?
5-10%
A man has taken 5 times his regular dose of heparin. Which medication would you administer?
Protamine
You stain a sample of a patient’s bone marrow with Prussian Blue stain. You observe an accumulation of iron around the nuclei of red blood cell precursors. What might the diagnosis be?
Ringed Sideroblasts, seen in myelodysplastic syndromes
What is the most common inherited cause of Aplastic Anaemia?
Fanconi Anaemia
A patient is known to have chronic H.Pylori infection. Which malignancy are they most at risk of?
Gastric MALT NHL
A patient is known to have Sjogren’s Syndrome, and are positive for both anti-ro and anti-la antibodies. Which malignancy are they most at risk of developing?
Marginal Zone NHL of the parotid.
A patient has poorly controlled Coeliac disease. Which malignancies are they most at risk of developing?
Small Bowel T Cell Lymphoma
Enteropathy-associated T Cell NHL
Which virus is associated with Adult T Cell Leukaemias?
HTLV1
Which cells of the immune system are marked by CD3 and CD5?
T Cells
Which cells of the immune system are marked by CD20?
B Cells
Which Non-Hodgkins Lymphoma is most common?
B Cell Lymphoma
A patient presents with a painless swollen lymph node and splenomegaly. They have also experienced weight loss and drenching night sweats. Genetic analysis reveals a (11;14) translocation. What is the most likely diagnosis?
Mantle Cell Lymphoma
Histology of a lymphoma reveals small lymphocytes which are CD5 and CD23 positive. These replace the entire node, with no follicles or areas of T Cell dominance visible. Which subtype is it?
Small lymphocytic Lymphoma
A child presents with a growing unilateral mass on their mandible. They are known to have been infected with EBV. Biopsy shows a ‘Starry Sky’ Appearance’. What is the likely diagnosis?
Burkitt’s Lymphoma
A patient is diagnosed with mycosis fungoides. Which malignancy are they now at risk of?
Cutaneous T Cell Lymphoma
A lymphoma is shown to be positive for CD15 and CD30. Which histological subtype is it most likely to be?
Hodgkin’s Lymphoma
A Lymphoma displays reed-Sternberg cells under histology, however is negative for CD15 and CD30, and positive for CD20. What is the most likely diagnosis?
Lymphocyte predominant Hodgkin Lymphoma
A patient presents with a progressive dry cough. His medical history is notable for treated Hodgkin’s Lymphoma. What is the most likely diagnosis?
Pulmonary Fibrosis
What are the two most common types of non-Hodgkins Lymphoma?
Diffuse large B Cell
Follicular
What is the most common leukaemia in the Western World?
CLL
A 58 year old patient is incidentally found to be anaemic and thrombocytopenic. Blood film shows the presence of smear cells. What is the most likely diagnosis?
Chronic Lymphocytic Leukaemia
A patient is diagnosed with cancer. He is informed that his disease will be staged by the Rai and Binet systems to guide treatment and prognosis. Which cancer does he most likely have?
Chronic Lymphocytic Leukaemia
List one gene mutation that is associated with a poor prognosis in CLL.
17p (Tp53) deletion
List one gene mutation which is associated with a good prognosis in CLL.
VH
A patient with a diagnosis of CLL begins to experience drenching night sweats, and finds a lump in his axilla. What pathological process has likely occurred?
Richter Transformation
What is the mechanism of action of Ibrutinib?
Bruton Tyrosine Kinase Inhibitor