Haematology

Question 1

A 35-year-old woman has a history of 3 consecutive pregnancy losses before 12 weeks of pregnancy. She had no other known complications during the pregnancies. Further testing reveals a lupus anticoagulant, which is still present on repeat testing 12 weeks later. Physical examination is normal.

Answer 1

Antiphospholipid syndrome

Question 2

A 42-year-old man is referred because of central retinal vein thrombosis. Medical history is uneventful; in particular, he has no known risk factors for venous or arterial thromboembolic disease. Screening for antiphospholipid antibodies reveals moderately elevated anticardiolipin antibody levels on 2 occasions, 12 weeks apart.

Answer 2

Antiphospholipid syndrome

Question 3

A 30-year-old man presents with fever and sore throat of 2 days’ duration. He reports several months of increasing fatigue and exertional dyspnoea, as well as easy bruising. Examination reveals tachycardia, evidence of tonsillopharyngitis, and scattered ecchymoses.

Answer 3

Aplastic anaemia

Question 4

A 1-year-old boy presents with sudden-onset fever and vomiting. Findings include irritability, tachycardia, pallor, cold extremities, diffuse skin rash with abdominal petechiae, and signs of meningeal irritation. Blood tests show leukocytosis, markedly decreased platelet count, increased PT/PTT, decreased fibrinogen, elevated fibrin degradation products, elevated urea, and metabolic acidosis. Gram-negative cocci were found in CSF and meningococci confirmed. Protein C activity is reduced.

Answer 4

DIC

Question 5

A 45-year-old man with acute onset of pancreatitis presents with episodes of epistaxis, increased PT/PTT, and decreased platelet count. Further coagulation work-up reveals increased thrombin time, decreased fibrinogen level, positive D-dimers, and increased fibrin degradation products. The blood culture is negative.

Answer 5

DIC

Question 6

A 20-year-old black woman presents to her primary care physician complaining of generalised weakness, fevers, and light-headedness for 2 weeks. Her symptoms have worsened over the previous week, when she developed left lower chest pain and left upper quadrant abdominal pain. A urinalysis was obtained, and she was treated for a UTI. She returns to her primary care physician when symptoms continue to worsen.

Answer 6

Haemolytic anaemia

Question 7

A 4-year-old boy presents with a 7-day history of abdominal pain and watery diarrhoea that became bloody after the first day. Three days before the onset of symptoms, he had visited a fairground with his family and had eaten a burger. Physical examination reveals a mild anaemia.

Answer 7

Haemolytic uraemic syndrome

Question 8

An 18-month-old boy presents with left ankle swelling and pain. He has limited range of motion at the ankle and has difficulty walking. Over the last year, he has presented with significant haematomas at immunisation sites. He also had prolonged bleeding after heel prick for neonatal screening tests.

Answer 8

Haemophilia

Question 9

A 6-year-old boy presents with prolonged bleeding after trauma to the oral cavity.

Answer 9

Haemophilia

Question 10

A 50-year-old woman presents approximately 3 weeks after an upper respiratory tract illness with petechiae, easy bruising, and gum bleeding. She has no personal or family history of a bleeding disorder and takes no medicines. Physical examination is normal except for petechiae and bruising. Specifically, she has no lymphadenopathy or hepatosplenomegaly. FBC reveals thrombocytopenia with a platelet count of 12 x 10^9/L (12 x 10^3/microlitre) but other cell lines are within normal limits. Peripheral blood smear shows thrombocytopenia but no other abnormalities.

Answer 10

Immune thrombocytopenic purpura (ITP)

Question 11

An 82 year old woman with a history of type 2 diabetes presented with unsteady gait and confusion of two months’ duration. Bloods showed decreased haemoglobin, decreased red cell count, deceased platelets, increased MCV.

Answer 11

Macrocytic anaemia

Question 12

A 40 year old pregnant female visited her GP with increasing fatigue. She had decreased haemoglobin, decreased red cell count, decreased red cell volume, and normal platelets.

Answer 12

Microcytic anaemia

Question 13

A 60-year-old previously healthy man presents with 2 to 3 months of back pain. Over the last 3 weeks, he has developed a cough and increasing fatigue. On examination he has evidence of pneumonia and is noted on radiography to have osteolytic lesions. Laboratory data reveals anaemia associated with the presence of a monoclonal protein.

Answer 13

Multiple myeloma

Question 14

A 45-year-old woman presents to the emergency department with nausea, vomiting, and confusion. She has a history of low back pain of 6 months’ duration and increasing sciatic pain in the last 2 weeks. On physical examination, the patient is pale and dehydrated with bone tenderness in the lumbar region. Neurological examination reveals an upgoing plantar reflex on the left with intact power in all muscle groups and at all joints. Magnetic resonance imaging reveals an L5 compression fracture. This is associated with hypercalcaemia and renal insufficiency.

Answer 14

Multiple myeloma

Question 15

A 70-year-old man presents with generalised fatigue that has slowly progressed over several months. On physical examination, the patient has pale mucus membranes and mild tachycardia. The remainder of the examination is unremarkable. Analysis of the bone marrow shows significant dysplasia with blasts <20%.

Answer 15

Myelodysplasia

Question 16

A 67-year-old man with many co-morbidities is found to have a haematocrit of 19%. He reports fatigue, night sweats, weight loss, abdominal discomfort, and progressive dyspnoea on exertion. On examination, he is cachectic but not in acute distress. His conjunctivae are pale. He has mild-to-moderate hearing loss. There is no lymphadenopathy. Chest examination reveals distant heart sounds with bilateral expiratory wheezes. Cardiac examination reveals no murmurs. Abdominal examination reveals a moderately enlarged spleen without hepatomegaly. Laboratory results reveal a normal white blood cell count, normal neutrophils, normal lymphocytes, normal monocytes, low Hb, normal MCV, low pts. and a normal reticulocyte count The peripheral blood smear shows occasional teardrop-shaped red blood cells, and erythroblasts and myelocytes. Iron studies, serum B12, and red blood cell folate levels, as well as a serum and urine protein electrophoresis, are within normal limits. CT scans of the chest, abdomen, and pelvis reveal moderate mediastinal lymphadenopathy and splenomegaly. Upper gastrointestinal endoscopy and colonoscopy are normal. A bone marrow aspirate is a ‘dry tap’. Bone marrow biopsy reveals an entirely fibrotic marrow with a few scattered plasma cells, lymphocytes, and maturing myeloid cells. Megakaryocytes are scattered and sometimes clustered and atypical with large hyperchromic nuclei. Haemoglobin staining reveals a few erythrocyte precursors. A CD34 stain reveals no increase in blasts. Mutation testing is positive for MPL, but negative for JAK2 V617F and calreticulin.

Answer 16

Myelofibrosis

Question 17

A 72-year-old woman with a past medical history of depression, hyperlipidaemia, and basal cell carcinoma of the skin, on low-dose selective serotonin reuptake inhibitor and statin, presents with thrombocythaemia. Full blood count shows an elevated platelet count, elevated white blood cell count with normal neutrophils, lymphoctes and monocytes, and Hb. Spleen is enlarged on MRI. Total blood volume and red blood cell mass are normal. Bone marrow biopsy reveals an increased number of megakaryocytes and moderate increase of reticulin fibres. Iron staining is normal and chromosomal analysis shows no abnormalities. Philadelphia chromosome is negative. Mutation testing is positive for JAK2 V617F, but negative for calreticulin and MPL.

Answer 17

Myelofibrosis

Question 18

An 80 year old male is admitted with diarrhoea, anorexia and a fall. His bloods show normal MCV, decreased Hb and normal platelets.

Answer 18

Normocytic anaemia

Question 19

A 55-year-old man has had routine physical examinations for several years and has always been healthy, does not smoke, and has no history of pulmonary disease. His primary care physician has noted a gradually increasing haemoglobin level over the past few years (to a current level of 195 g/L [19.5 g/dL]), mild leukocytosis, and mild thrombocytosis. He has frequent episodes of facial flushing that are associated with slight headaches and a feeling of fullness in his head and neck. He has noted intermittent burning, stinging, and tingling sensations in his fingertips. He has recurrent, often severe, pruritus that is exacerbated by taking a hot bath. On examination, he has a red face and neck and the spleen is mildly enlarged.

Answer 19

Polycythaemia vera

Question 20

A 62-year-old man, who has always been healthy, arrives for a pre-operative check prior to a minor procedure. A routine full blood count reveals an elevated haemoglobin level of 190 g/L (19.0 g/dL). He is surprised to hear about this abnormal result, as he has not noticed any symptoms or signs that have caused him concern. On examination, the only abnormality is a red facial complexion.

Answer 20

Polycythaemia vera

Question 21

A 6-month-old boy with no previous medical problems presents with fever and painful swelling of the hands and feet. His parents are concerned because he has been inconsolable for 6 hours. The infant has been refusing bottles and has needed fewer nappy changes over the last 2 days.

Answer 21

Sickle cell anaemia

Question 22

A 24-year-old woman with known sickle cell disease presents with a 3-day history of cough productive of white sputum, nausea, and poor appetite. She also has chest and hip pain unalleviated by paracetamol or ibuprofen.

Answer 22

Sickle cell anaemia

Question 23

An 8-month-old boy of Mediterranean origin presents with pallor and abdominal distension, both of which are progressive. The perinatal history was uneventful, and the boy is noted to be pale, with poor feeding, decreased activity, and failure to thrive. Hepatosplenomegaly and mild bony abnormalities of the skull are noted (frontal and parietal bossing).

Answer 23

beta thalassaemia

Question 24

A 21-year-old Vietnamese woman presents to her general practitioner to establish care. She emigrated from Vietnam 12 years ago and has not had regular medical care in either country. She reports having chronic fatigue that interferes with her ability to complete her college studies. She has an unremarkable past medical history and has never been pregnant. She is currently sexually active. She has no siblings and her parents have no remarkable medical issues. On physical examination her liver span is 10 cm and her spleen is palpated 5 cm below the left costal margin. No lymph nodes are palpable.

Answer 24

Alpha thalassaemia

Question 25

A 26-year-old black woman presents in her thirteenth week of pregnancy with fatigue. She is found to be mildly anaemic with a haemoglobin of 110 g/L (11 g/dL) and an MCV of 75 femtolitres. She is empirically started on iron sulfate tablets and develops significant constipation. Four weeks later she has had no improvement in her haemoglobin and she is referred to haematology. She has never been pregnant previously. There is no known history of anaemia in her family. Her physical examination is unremarkable.

Answer 25

Alpha thalassaemia

Question 26

A 40-year-old overweight black woman presents with a 1- to 2-week prodrome of fatigue and malaise with diarrhoea and vomiting. Examination is normal except for slight confusion and petechiae on her lower extremities. Laboratory studies show a haematocrit of 25% and a platelet count of 10 x 10^9/L (10,000/microlitre). Lactate dehydrogenase is raised. Serum creatinine is 97.2 micromol/L (1.1 mg/dL). Peripheral smear shows fragmented RBCs (schistocytes) and an raised reticulocyte count.

Answer 26

Thrombotic thrombocytopenic purpura

Question 27

A 68-year-old man presents for a routine physical examination and follow-up for his hypertension, hyperlipidaemia, and hypothyroidism. He complains of mild fatigue but is otherwise healthy. Laboratory evaluation is remarkable for a haematocrit of 0.34 (34%), with an MCV of 110 fL (110 micrometres^3). On further query, he denies alcohol use and any other symptoms.

Answer 27

Vitamin B12 deficiency

Question 28

A 70-year-old man presents for routine physical examination. He complains of fatigue, shortness of breath, and painful swallowing. He admits to daily alcohol consumption and decreased consumption of fresh vegetables and fruits. Physical examination reveals pallor, glossitis, flow murmur, and normal neurological examination.

Answer 28

Folate deficiency

Question 29

A 24-year-old woman presents to the emergency department 8 weeks postnatal with heavy vaginal bleeding, fatigue, and light-headedness. This was her first pregnancy. She has a history of menorrhagia since menarche and iron-deficiency anaemia. She had no bleeding symptoms during her pregnancy, and her vaginal bleeding was not excessive in the first few days after delivery, but it has continued since the delivery and in the past week has increased in flow. Her past medical history is remarkable for an appendectomy at age 14 years without bleeding complications, but she had to return to the oral surgeon for suturing after wisdom tooth extraction at age 16 years. Her family history is remarkable for a sister with heavy menses. Her father had recurrent nosebleeds as a child and had several cauterisations as therapy.

Answer 29

Von Willebrand disease