Med GEMS Questions Part 2 Flashcards
A 21 year old woman with transfusion dependent beta thalassaemia normally has a transfusion every two weeks.
She has recently moved into your care and no previous blood results are available.
Pre-Transfusion bloods show a Hb of 76 (low) and a WCC of 23 (Normal Range: <11)
She is clinically well, apyrexial. She denies losing weight or night sweats. Her appetite is good.
What blood test should be ordered to further investigate the raised white cell count given her history?
Reticulocyte count
A 62 year old man develops palpitations while undergoing chemotherapy for acute myeloid leukaemia.
ECG shows p wave flattening, hyperacute T waves and a broadened QRS compared to an ECG 5 days prior.
What electrolyte abnormality is responsible for the ECG changes?
Hyperkalaemia
What chromosomal translocation is associated with Mantle Cell Lymphoma?
t(11:14)
Chromosomal translocation with follicular lymphoma?
t(14:18) [Bcl-2]
Chromosomal translocation with Burkitt lymphoma?
t(8:14) [c-myc]
Translocation associated with Acute Promyelocytic leukaemia?
t(15:17)
A histopathological biopsy of a lymph node is reported as follows:
“Significant infiltrates of homogenous lymphocytes. Macrophages are interspersed between sheets of lymphocytes and clearly contain apoptotic lymphocytes”
What lymphoma is associated with this histopathological description?
Burkitt’s lymphoma
What is the inheritance pattern of hereditary elliptocytosis?
Autosomal dominant
What is the most common cause of iron deficiency anaemia in the developing world?
Hookworm
What blood test is a measure of fibrin degredation products and may reflect activity of the body’s anticoagulant system?
D-dimer
A patient is investigated for tiredness.
Blood tests show a low haemoglobin.
A peripheral blood smear shows microcytosis, hypochromia and the presence of cigar cells.
What is the likely diagnosis?
Iron deficiency anaemia
What is the term given to a group of genetic condition which affect the synthesis of the haem molecule, which is vital for the function of haemoglobin, peroxidase and P450 enzymes?
Poryphyria
What blood film finding may be found in multiple myeloma and is reflective of a paraproteinaemia?
Rouleaux formation
A 63 year old man is admitted to hospital with severe pain in his right flank which comes and goes in waves. He cannot remain still while the pain is at its worst.
He has had similar episodes in the past which resolved without him seeing a doctor. He has no other past medical history of note.
Blood tests reveal an elevated calcium (3.1, NR 2.2-2.6); a normocytic anaemia (Hb 90, NR >120); and an elevated urea and creatinine.
After further questioning, he reports pain in his back and his legs which has progressively been worsening.
What is the likely underlying diagnosis?
Multiple myeloma
A 55 year old smoker presents to ED with unilateral left arm swelling which developed over a few days.
A D dimer is elevated. Platelets are elevated. An ultrasound doppler of the left arm does not reveal the presence of a blood clot. Other blood tests are unremarkable.
What is the next most appropriate investigation?
Chest x-ray
What is the reversal agent for rivaroxaban?
Andexanet alfa
What is the characteristic lymph node biopsy finding associated with Hodgkin lymphoma?
Reed-sternberg cells
Multiple myeloma is a lymphoproliferative malignancy of what type of immune cell?
Plasma cells
What protein is classically mutated in hereditary spherocytosis?
Spectrin
Secretion of what hormone is responsible for the development of polycythaemia in COPD?
Erythropoietin
A medical student is unsure about what cell she is looking at under the microscope. She is looking a peripheral blood film.
She describes a cell that looks plentiful on the film and has a multisegmented nucleus. It is approximately twice the size of the red cells she can see on the film.
What cell is she describing?
Neutrophils
What condition is associated with infiltration of large numbers of megakaryocytes into bone marrow, an elevated platelet count and is associated with increased stroke risk?
Essential thrombocytosis
What is the most common immunoglobulin produced by plasma cells in multiple myeloma?
IgG
A 3 year old boy is seen by his GP after his mother noted that his right knee had swollen during the night and become painful to the touch. This has happened multiple times before in the other knee and it has resolved spontaneously. The child appears well and has no fever. He is able to weight bear. He does not appear distressed by it. His brother has had similar symptoms.
His past medical history includes recurrent epistaxis and his mother says he bruises easily.
The GP suspects this may be a clotting disorder and orders a panel of bloods, including inflammatory markers and a clotting screen.
Given the most likely diagnosis, what blood test would you expect to be elevated?
APTT
A 80 year old man is seen by their GP.
His wife is concerned that his gums have grown. He says when he brushes his teeth, they tend to bleed.
He has had weight loss (10% in the last 6 months) and now bruises easily.
A full blood count shows a low haemoglobin and low platelets. There is an elevated white cell count, with a large number of neutrophils.
A blood film shows the presence of myeloid blast cells.
What is the diagnosis?
Acute myeloid leukaemia
How can M3 subtype (acute promyelocytic leukaemia) of AML be treated?
all-trans retinoic acid.
What blood test is used clinically to measure the activity of the extrinsic and common clotting pathways?
Prothrombin time
What inherited condition, after cystic fibrosis, is the most common cause of pancreatic exocrine dysfunction in children?
Shwachman Diamond syndrome
What is Diamond–Blackfan syndrome?
typically affects red blood cells only - presents with anaemia
What is the classical inheritance pattern of G6PD deficiency?
X-linked recessive
What first line small molecule inhibitor is used in the treatment of chronic lymphocytic leukaemia?
Ibrutinib
What is Richter’s transformation?
Where a low-grade CLL converts to a high grade, aggressive Diffuse Large B Cell Lymphoma.
How does Venetoclax work?
BCL2 inhibitor
A 28 year old woman is 39 weeks pregnant. Her labour is induced.
During the delivery she becomes unwell with rigors, sweating and vomiting.
Her observations are recorded as: pulse rate 147bpm, blood pressure 92/62mmHg.
Bloods reveal an INR of 2.4 (1), APPT 47 seconds (22-42), fibrinogen 0.8 (1.5-4.0g/L), D Dimer 3350 (<250)
What condition has been precipitated by her induction of labour?
DIC
What description is given to red blood cells which are typically polychromatic and stain heavily for the presence of RNA?
Reticulocyte
What drug inhibits the fusion protein BCR-ABL and is used in the treatment of Chronic Myeloid Leukaemia?
Imatinib
What abnormality is commonly seen on a full blood count of patients with fanconi anaemia?
Pancytopenia (most common cause of bone marrow failure)
Which haemoglobin chain is mutated in sickle cell disease?
Beta globin
What prothrombotic condition is associated with thrombocytopenia and immune complex formation?
Heparin induced thrombocytopenia
A 61 year old man undergoes the NHS Health check and has a blood test.
His cholesterol is high and his WCC is 24 (NR: 4-11) with a neutrophil level of 17 (NR: 1.5-8).
On examination, there is fullness in the left upper quadrant of the abdomen but no lymphadenopathy. He denies any recent travel.
He denies any fever, night sweats or weight loss. He does not feel unwell.
What is the likely diagnosis?
CML
What is the term given to the blood film finding of erythrocytes stacked on top of each other?
Rouleaux formation
A 78 year old woman is suspected to have immune thrombocytopenic purpura.
Her platelet count is 115 (NR >150). She reports no bruising, bleeding or rashes.
What is the most appropriate treatment?
No treatment
A 55 year old smoker presents to ED with unilateral left arm swelling which developed over a few days.
A D dimer is elevated. Platelets are elevated. Other bloods are unremarkable.
A Chest X ray is normal, although shows hyperexpanded lung fields.
What is the most appropriate next investigation?
USS doppler L arm
What is the classical finding on a full blood count for a patient suspected of dyskeratosis congenita?
Pancytopenia
Findings o FBC in dyskeratosis congenita?
Neutropenia (due to telomere shortening)
What is the most common reaction to transfusion of packed red blood cells?
Fever
A 70 year old man presents with painless cervical lymphadenopathy.
Other than an elevated lymphocyte count, his full blood count is normal.
Immunophenotyping of lymphocytes taken from that blood sample reveal the cells are positive for CD19 and CD5.
What is the most likely diagnosis?
CLL
What can be used to treat CLL?
Ibrutinib
A 70 year old man is seen in clinic. He describes a history of progressive enlargement of a “lump” in his groin.
USS reveals it to be a lymph node and a biopsy is taken.
What is the likely histopathological type of lymphoma that will be seen on biopsy?
Diffuse large B cell lymphoma
Most common lymphoma in <15 year olds?
Burkitt’s lymphoma
In which organ is ferritin typically found in the body?
Liver
What are inclusions of denatured haemoglobin within erythrocytes commonly called when seen in a peripheral blood film?
Heinz bodies
A 18 year old Greek man has just returned from a holiday to Malawi and arranges a GP appointment.
He said during the holiday he turned yellow, his urine turned brown and he felt more tired than normal.
He has no relevant past medical history, is up to date on her vaccinations and took antimalarial prophylaxis as directed.
The doctor suspects an intravascular haemolysis. Blood tests reveal a normocytic anaemia with unconjugated bilirubinemia. Levels of G6PD were normal. DAT negative.
What is the most likely reason for the intravascular haemolysis?
G6PD deficiency
A patient has a normocytic anaemia, an elevated unconjugated bilirubin, elevated LDH and low haptoglobin.
A peripheral blood film reveals spherocytes. Direct Coomb’s test is negative.
What investigation will confirm the diagnosis?
Eosin-5-malemide test (to confirm hereditary spherocytosis)
What clotting factor has the shortest half life?
Factor 7
What abnormality on a full blood count would be expected in Shwachman–Bodian–Diamond syndrome?
Neutropenia
A patient with metastatic ovarian cancer is investigated for unilateral lower limb swelling and is confirmed to have a DVT.
What is the most appropriate form of anticoagulation?
DOAC
What infectious agent is associated with malignancy of germinal centre B lymphocytes?
Epstein barr virus
A doctor suspects that their patient may be anaemic.
The doctor orders a panel of blood tests and a urine dip.
The urine dip was positive for blood.
A FBC reveals a normocytic anaemia.
The results of Iron Studies are below.
Serum iron Normal
Total Iron Binding Capacity (TIBC) Normal
C Reactive Protein 3 (NR 2-8)
Ferritin Normal
Bilirubin Elevated
What type of anaemia does this patient have?
Haemolytic anaemia
Which chemical ion is required to convert Factor IX to Factor X in the intrinsic pathway of the clotting cascade and Factor VII to Factor X in the extrinsic pathway of the clotting disorder?
Calcium
A 48 year old female with bilateral hot, swollen and painful wrists presents to her GP.
She says she has been feeling under the weather for about a year, however in the last week her joints have become exquisitely painful. She’s also felt very tired and thinks she’s been losing weight.
A full blood count reveals a normocytic anaemia, however there is a decreased total iron binding capacity (TIBC) and elevated serum ferritin.
What type of anaemia does this patient have?
Anaemia of chronic disease
Haematology (Bone Marrow Failures)
A 14 year old boy is seen by a haematologist.
He has been referred due to concerns from his GP about a clotting disorder, as he has had recent unexplained petechiae, nosebleeds, tiredness and fatigue.
Bloods from the GP showed a pancytopenia.
The haematologist performs a full physical examination and notes the presence of longitudinal ridging in the nails and areas of whitish grey discolouration in the mouth. There are fine, end inspiratory crackles at both lung bases.
The haematologist suspects a primary bone marrow disorder.
What is the most likely diagnosis?
Dyskeratosis congenita
Dyskeratosis congenita is an inherited bone marrow failure which typically presents around age 15. The classical triad is of nail dystrophy (nail loss, longitudinal ridging), oral leukoplakia (white patches in the mouth) and skin pigmentation (lace like hyperpigmentation of skin creases), although this is thought to occur less commonly than previously described.
A newer definition involves at least one of the features of the classical triad, with associated bone marrow failure (aplastic anaemia) and two other internal signs (like pulmonary fibrosis).
The condition is caused by mutations in genes which protect telomeres. Telomeres protect the ends of chromosomes from damage and are associated with aging. Essentially, this condition reflects abnormal, advanced, cellular aging.
A 6 year old boy is seen by his GP.
His dentist said that he should have his blood tested after a recent tooth extraction took a long time to clot.
Blood tests show a normal INR, prolonged APTT, normal PT, normal level of platelets, normal levels of Von Willebrand factor, normal factor IX but low Factor VIII. Bleeding time is normal.
What is the diagnosis?
Haemophilia A
What scoring system can be used to calculate the probability of developing heparin induced thrombocytopenia?
4T score
A 1 year old has been experiencing excessive sleepiness over the last month. She now sleeps for 18 hours a day and before that her parents noticed her becoming slower and more withdrawn.
Her parents are concerned and bring her to see her GP.
On examination, there are bruises on her wrist, arms and stomach. There is palpable splenomegaly.
The GP makes an urgent safeguarding referral.
Blood tests show a low haemoglobin and low platelets. There is an elevated white cell count, reported as neutrophils. A manual differentiation reveals the presence of an abundance of myeloid precursor cells.
What is the diagnosis?
Acute myeloid leukaemia
A bone marrow biopsy for a patient suspected of having multiple myeloma shows 15% clonal plasma cells in the bone marrow. She does not have any symptoms of end organ damage.
What is the diagnosis?
Smouldering myeloma
Plasma cells in MGUS?
MGUS has <10% plasma cells in the bone marrow on biopsy
After myelodysplastic syndrome, which haematological malignancy does Fanconi anaemia carry an approximate 10% lifetime risk of developing?
AML
Signs of Fanconi anaemia?
The most common type of inherited primary bone marrow failure. It presents between the ages of 5-9 with skeletal abnormalities (abnormal thumbs), short stature, cafe au lait spots and pancytopenia.
A 75 year old woman is seen in A&E with severe, right sided pain. She points to her right PSIS and says the pain is worse there. Palpation does not make the pain worse. Nothing makes the pain better. It is throbbing in nature. She denies trauma and this has worsened over the last two months.
In this time, she has lost 5% of her body weight. She is anaemic and has an elevated serum corrected calcium.
Serum protein electrophoresis shows the presence of a large, monoclonal band. Urinary bence jones proteins were negative.
What is the likely diagnosis?
Multiple myeloma
What is the most common adulthood leukaemia?
CLL
Most common childhood leukaemia?
ALL
A long term alcoholic presents to their GP for a review.
The doctor orders a panel of blood tests.
A FBC reveals a normocytic anaemia.
The results of Iron Studies are below.
Serum iron Elevated
Total Iron Binding Capacity (TIBC) Normal
Ferritin Elevated
C Reactive Protein 3 (NR 2-8)
A blood film is ordered and reveals the presence of immature red blood cells with inclusions of iron deposits in a ring formation.
What type of anaemia does this patient have?
Sideroblastic anaemia
What is the most sensitive biomarker for iron deficiency anaemia?
Serum ferritin
What blood test is used clinically to measure the activity of the instrincit and common clotting pathways?
APTT
A 82 year old man is seen in A+E following 2 weeks of being nonspecifically unwell.
Blood tests reveal a profound anaemia (Hb 45 NR >125) and thrombocytopenia (Plts 42 NR >150). Neutrophils are elevated at 4x the upper limit of normal. C reactive protein is normal.
Blood cultures are negative. A CXR reveals no consolidation or hilar enlargement. A urine sample reveals protein +1.
These haematological abnormalities were not present on a blood test 2 weeks prior.
What is the likely diagnosis?
AML
What is the term given to describe spherical erythrocytes which may be congenital or due to autoimmune haemolytic anaemia?
Spherocyte
What clotting factor do the intrinsic and extrinsic clotting pathways converge onto?
Factor 10
A 74 year old woman is seen following blood tests done for monitoring of pernicious anaemia.
Her blood tests show a Hb 132 (normal), MCV 92 (normal), Plts 89 (low), WCC 8 (normal). B12 and folate were normal. LFTs were normal.
She is tested for HIV (-ve) and Hepatitis B (HbSAg -ve).
Her GP sends a blood film and a repeat full blood count, which was normal other than thrombocytopenia.
What is the likely cause of her thrombocytopenia?
Immune thrombocytopenia purpura
What is the typical finding on a full blood count for patients with Diamond Blackfan anaemia?
Anaemia
What is the reversal agent for dabigatran?
Idarucizumab
The M3 subtype of Acute Myeloid Leukaemia can be treated effectively with which first line drug?
All Trans Retinoic Acid
The myeloproliferative syndromes, which include essential thrombocytosis, all carry a risk of transformation to what life threatening malignancy?
AML
A 71 year old woman is seen by her GP due to progressive tiredness. She also thinks she has been losing weight.
On examination, there was cervical lymphadenopathy.
A full blood count showed a low haemoglobin and an elevated white cell count, predominantly lymphocytes.
A blood film was performed and did not show any immature cells.
What is the likely diagnosis?
CLL
A 70 year old man is admitted to the general medical ward following a paracetamol overdose. He completes treatment for his overdose without complication and is discharged. He is normally fit and well. He received standard venous thromboprophylaxis during his stay with enoxaparin.
Blood tests 10 days later at his GP show a severe thrombocytopenia, with normal liver function tests.
Other cell lineages are normal. He denies any symptoms of bleeding. He feels well.
What is the most likely explanation for his thrombocytopenia?
Heparin induced thrombocytopenia
An 18 year old presents to their GP with a neck lump.
It is approximately 3.5cm, mobile and untethered in the posterior triangle of the neck.
On further questioning, he reports weight loss and drenching night sweats.
A blood film showed the presence of multinucleated and reactive lymphocytes.
What is the most likely diagnosis?
Hodgkin’s Lymphoma
Give an example of a chemotherapy drug which inhibits BCL2 and hence increases lymphocyte apoptosis in CLL.
Venetoclax
A 68 year old man feels unwell while undergoing his first cycle of chemotherapy for acute myeloid leukaemia.
He is known to have primary hyperparathyroidism and takes an inhaled corticosteroid for asthma.
A VBG performed by the oncall F1 shows a calcium of 1.6mmol/L.
Pre chemotherapy bloods 2 weeks prior show a calcium of 2.71mmol/L
What is the diagnosis?
Tumour lysis syndrome
Which cofactor is required for synthesis of the anticoagulant proteins C and S?
Vitamin K
A medical student is unsure about what cell she is looking at under the microscope. She is looking a peripheral blood film.
She describes a cell with a bilobed nucleus. The cytoplasm of the cell has stained some areas with a reddish-purple colour. She says there aren’t many of these in the blood film.
What cell is she describing?
Eosinophil
A medical student is unsure about what cell she is looking at under the microscope. She is looking a peripheral blood film.
She describes an odd looking cell that she hasn’t seen before in this patient. It has lots of dark blue speckles in the cytoplasm of the cell. It is much larger than the red blood cells.
What cell is she describing?
Basophil
What chromosomal translocation is associated with Follicular Lymphoma?
t(14:18)
A 1 month old child is investigated for the cause of a macrocytic anaemia, identified during routine workup for surgery for treatment of her cleft palate. She is noted to be quite underweight. Her brother has suffered from similar issues.
Vitamin B12 and folate levels were normal. Haemoglobin electrophoresis showed elevated fetal haemoglobin, but no other abnormalities. Her reticulocyte count was low.
What is the most likely underlying diagnosis?
Diamond blackfan syndrome
A medical student is unsure about what cell she is looking at under the microscope. She is looking a peripheral blood film.
She describes a cell that is nearly completely dark purple, except for a thin rim of slightly blue stained cytoplasm. It’s roughly the same size as red blood cells.
What cell is she describing?
Lymphocyte
A 56 year old man is reviewed by his GP after his blood tests suggested a new microcytic anaemia.
His ferritin and serum iron is low. His full blood count, CRP, renal function, LFTs, B12 and folate are otherwise normal.
A blood film reveals the presence of hypochromic erythrocytes with pencil cells.
What is the next most appropriate blood test to request, prior to an OGD and colonoscopy?
Anti Tissue Transglutaminase Antibodies
What clotting disorder is associated with a reduced platelet count, elevated PT, elevated APTT and an elevated bleeding time?
DIC
A 78 year old woman is admitted to hospital following blood tests which showed profound anaemia, leukopenia and thrombocytopenia.
Her abdominal exam reveals hepatosplenomegaly. A blood film shows dacrocytes and the presence of immature haematological cells.
What investigation would confirm the diagnosis?
Bone marrow biopsy
What chromosomal translocation is associated with a poor prognosis in Acute Lymphoblastic Leukaemia?
t(9:22)
What enzyme is inhibited by warfarin and leads to a reduction in clotting factors II, VII, IX and X?
Vitamin K epoxide reductase
What chromosomal translocation is associated with Chronic Myeloid Leukaemia?
t(9;22)
What molecule, secreted by the liver, inhibits iron absorption from the gut by inhibiting ferroportin?
Hepcidin
What intracellular inclusion may be found in the neutrophils of a patient with acute myeloid leukaemia?
Auer rods
Which haematological malignancy is most commonly associated with formation of the Philadelphia Chromosome (9;22 translocation)?
CML
What amino acid is glutamate substituted for in sickle cell disease?
Valine
Indications for dialysis:
- Pulmonary oedema
- Refractory hyperkalaemia
- Metabolic acidosis
- Uraemic encephalopathy
- Also some drug toxicity (e.g. lithium)
- What does the number of True positives divided by the total number who have the disease describe?
Sensitivity
- Which of these ions (K, CL, Na, Mg) is most likely to be outside its normal range in an alkalotic picture (& if person is urinating a lot????)?
Potassium
- A Girl develops a throat infection. She is given amoxicillin, and a rash develops. It is later found out that she has infectious mononucleosis, and her symptoms persist
a. Drug reaction
b. Penicillin allergy
c. Mastocytosis
Drug reaction
- Cushing disease person – Which is the best investigation to confirm the suspected diagnosis?
a. High dose dexamethasone suppression test
b. Low dose dexamethasone suppression test
c. Long synacthen test
d. Short synacthen test
High or low??
- pH 7.1, pCO2 low (2.2 or 3 or something)
a. metabolic acidosis
b. metabolic alkalosis
c. respiratory acidosis
d. respiratory alkalosis
Metabolic acidosis
- A man has gout and is kept up at night by it. His symptoms are relieved by ibuprofen, but when he stops taking it, the symptoms come back. His neighbour is on allopurinol, and he would like to be on it too. Which of these medications would need to be altered for them to be able to be prescribed allopurinol?
Azathioprine
- Which of these is a common finding in someone who has portal hypertension?
a. Splenomegaly
b. Hepatomegaly
c. Spider Naevi in distribution of Superior vena cava (SVC)
d. Hand flapping
e. Jaundice
Splenomegaly
- Person is discharged after surgery, who had a bilateral hemianopia, with removal of pituitary adenoma. Consultant says it is alright to discharge them. What do you prescribe the patient on discharge?
a. DDAVP
b. Fludrocortisone
c. Testosterone
DDAVP
CAH: what metabolic disturbance?
Hyponatraemia, hyperkalaemia, hypovolaemia
Woman presents worried because she has low glucose when she tests using daughter’s meter (her daughter has T1DM) but denies taking any drugs. Low glucose, high insulin, low C peptide, she has a high BMI
Factitious/ surreptitious insulin (i.e. taking too much external insulin)
Red cell lysis, what ion is raised?
Potassium
Which molecule takes cholesterol and moves it to liver and steroidogenesis organs?
Cholesterol ester transferase? HDL?
Which disease do you see in both MEN1 and MEN2a?
Primary hyperaparathyroidism
High PTH and low Ca, what can this be?
Osteomalacia
What would be high in the most common cause of CAH?
ACTH
Publican with diabetes, fatty stools, weight loss, ‘slate grey skin’ and joint pains. What is the underlying diagnosis causing this?
Haemachromatosis
What enzyme to confirm cardiac failure?
BNP (brain narituretic peptide)
Deficiency of which enzyme leads to hyperuricemia?
HGPRT (Nesch Hyan syndrome)
