AKT – Haematological presentations

Emily Thomson, aged 33, presents with fatigue and shortness of breath on exertion for the past two months. She also mentions heavy menstrual bleeding. She is a vegetarian and has recently started training for a half-marathon.

Her medications include the oral contraceptive pill. No family history of haematological disease. Non-smoker. BMI 22.

On examination, she appears pale. There is a systolic flow murmur. No hepatosplenomegaly or lymphadenopathy.

FBC reveals Hb 89 g/L, MCV 71 fL, ferritin 6 µg/L.

What is the most appropriate next step in management?

Mark Spiteri, aged 74, presents with bruising, epistaxis and gum bleeding over the past week. He has also noticed feeling more fatigued than usual. No recent infections or new medications. Past history includes hypertension and osteoarthritis.

He takes perindopril and paracetamol regularly. Non-smoker. No alcohol use.

On examination, there are petechiae on his lower limbs. No hepatosplenomegaly or lymphadenopathy.

FBC: Platelets 15 x10⁹/L, Hb 125 g/L, WBC 6.2 x10⁹/L. Coags normal.

What is the most likely diagnosis?

Sarah Ali, aged 45, presents with increasing fatigue, weight loss and early satiety. She has had no recent infections. No significant medical history. Family history of bowel cancer (father at 68). Non-smoker. Works as a teacher.

On examination, she has palpable splenomegaly but no lymphadenopathy.

FBC shows: Hb 110 g/L, WBC 45 x10⁹/L, platelets 600 x10⁹/L. Peripheral smear shows myelocytes and basophils.

What is the most likely diagnosis?

James Randall, aged 19, presents with fever, sore throat and lethargy for 5 days. He is struggling to eat due to odynophagia. No cough or coryza. No significant medical history.

On examination, he has enlarged tonsils with exudate, cervical lymphadenopathy and mild splenomegaly.

FBC: Hb 135 g/L, WBC 18 x10⁹/L (with 70% lymphocytes, some atypical), platelets 160 x10⁹/L. Monospot test is positive.

What advice should be given regarding physical activity?

Chloe Nguyen, aged 27, presents with persistent fatigue. She is a nurse and has had multiple needle-stick injuries in the past. No recent travel. Past history includes one first-trimester miscarriage. No current medications. Non-smoker.

Examination is normal. FBC shows mild pancytopenia. Further testing shows positive ANA and dsDNA antibodies. Reticulocyte count is low. Direct Coombs test is positive.

What is the most likely explanation for her anaemia?

Benjamin O’Leary, aged 58, presents with lethargy and weight loss. He reports drenching night sweats and has noted a fullness in the left upper quadrant. He has no significant past history. No recent travel.

On examination, he has palpable cervical and axillary lymphadenopathy and splenomegaly. No fever today.

FBC shows: Hb 112 g/L, WBC 28 x10⁹/L, platelets 190 x10⁹/L. Peripheral smear shows smudge cells.

What is the most likely diagnosis?

Sophie Papadopoulos, aged 5, is brought in with pallor, irritability and decreased appetite. Her diet consists mainly of cow’s milk and white bread. No known medical conditions. Immunisations are up to date.

On examination, she is pale but alert. No hepatosplenomegaly or lymphadenopathy.

FBC: Hb 78 g/L, MCV 65 fL, ferritin 4 µg/L. Lead level is normal.

What is the most appropriate next step in management?

David Tran, aged 68, presents for routine check-up. He feels well. His past history includes type 2 diabetes and hypertension. Non-smoker.

FBC shows: Hb 168 g/L, HCT 0.53, WBC 9 x10⁹/L, Platelets 420 x10⁹/L. Erythropoietin level is low. JAK2 V617F mutation is positive.

What is the most likely diagnosis?

Abigail Moore, aged 41, presents with fatigue and recurrent oral ulcers. She reports numbness in her feet and occasional unsteadiness. Vegan for 10 years. No other significant history.

FBC: Hb 92 g/L, MCV 115 fL, WBC 3.5 x10⁹/L, platelets 130 x10⁹/L. B12 level is low.

What is the most appropriate next step in management?

Samuel Wright, aged 49, presents with recurrent nosebleeds and easy bruising. No family history of bleeding disorders. He denies alcohol or illicit drug use. No new medications.

On examination, he has scattered bruises over limbs and mild hepatomegaly. No splenomegaly. No lymphadenopathy.

FBC: Hb 130 g/L, Platelets 80 x10⁹/L, WBC 5.2 x10⁹/L. LFTs: ALT 62, AST 75, ALP 110, GGT 145.

What is the most likely cause of his thrombocytopenia?

Thomas Lang, aged 72, presents with a 2-month history of weight loss, fatigue and night sweats. He has no significant past medical history. On examination, there is palpable cervical, axillary and inguinal lymphadenopathy.

FBC shows Hb 118 g/L, WBC 8.4 x10⁹/L, Platelets 165 x10⁹/L. LDH is elevated. Excisional lymph node biopsy reveals Reed-Sternberg cells.

What is the most likely diagnosis?

Anna Ghosh, aged 31, is 18 weeks pregnant and presents with easy bruising and bleeding gums. No history of bleeding disorders. Platelet count on routine antenatal screening is 84 x10⁹/L.

She is otherwise well, with no signs of pre-eclampsia. No hepatosplenomegaly. Normal LFTs and renal function.

What is the most likely diagnosis?

Jesse Miller, aged 62, presents with increasing fatigue and breathlessness. He has a history of chronic renal impairment (eGFR 32 mL/min) and type 2 diabetes. No signs of active bleeding.

FBC: Hb 92 g/L, MCV 88 fL, ferritin 200 µg/L, transferrin saturation 15%.

What is the most appropriate management to address his anaemia?

Isla Brody, aged 46, presents with fatigue and a swollen right leg. Duplex ultrasound confirms a right lower limb DVT. She has no prior history of thrombosis, no recent surgery or immobility. She is not on the oral contraceptive pill.

FBC, renal function, and LFTs are normal. You order a thrombophilia screen.

What is the most appropriate timing for thrombophilia testing?

Leo Sutherland, aged 4, is brought in with pallor, fatigue and bruising. His parents report he has been unwell for a week with fevers and bone pain. No known medical conditions.

On examination, he is pale with petechiae and hepatosplenomegaly. FBC: Hb 74 g/L, WBC 32 x10⁹/L, Platelets 30 x10⁹/L. Blood film shows blasts.

What is the most likely diagnosis?

Naomi Elwood, aged 38, presents with lethargy and cold intolerance. She has had two miscarriages in the past year. No known chronic illnesses. On examination she appears pale and has dry skin. No lymphadenopathy or organomegaly.

FBC: Hb 100 g/L, MCV 110 fL, WBC 4.2 x10⁹/L, platelets 150 x10⁹/L. B12 low, anti-intrinsic factor antibody positive.

What is the most likely underlying cause?

Owen Black, aged 50, presents with generalised bone pain and fatigue. He has also noticed recurrent infections over the past few months. On examination he has mild pallor and no lymphadenopathy.

FBC: Hb 90 g/L, WBC 3.9 x10⁹/L, Platelets 140 x10⁹/L. Serum protein electrophoresis reveals a monoclonal spike. Calcium 2.95 mmol/L, creatinine 150 µmol/L.

What is the most likely diagnosis?

Liam Ng, aged 25, presents with an unprovoked DVT. He has no significant medical history and takes no regular medications. Family history reveals his father had a pulmonary embolism at age 40.

Which of the following is the most appropriate initial test for inherited thrombophilia?

Zara Langford, aged 61, presents with a painful, swollen left calf after a long-haul flight. Duplex ultrasound confirms a DVT. She has a BMI of 35 and is otherwise well. Renal function is normal.

Which of the following is the most appropriate anticoagulation strategy?

Claudia Pires, aged 45, presents with fatigue and has noticed a tan despite no sun exposure. On examination she is hypotensive with pigmented palmar creases. Bloods show: Hb 105 g/L, Na 130 mmol/L, K 5.6 mmol/L, glucose 3.5 mmol/L.

Which haematological finding would be most consistent with her diagnosis?

George Milos, aged 69, presents with fatigue and recurrent infections. Past history includes chronic lymphocytic leukaemia diagnosed two years ago and managed conservatively. He now reports increasing night sweats and early satiety.

Examination reveals marked splenomegaly and palpable cervical nodes. FBC: Hb 98 g/L, WBC 85 x10⁹/L, Platelets 105 x10⁹/L. LDH is elevated.

What is the most likely explanation for his symptoms?

Meena Kapoor, aged 37, presents for preconception counselling. Her brother has thalassaemia major and she is concerned about her carrier status. She is well and asymptomatic. Her partner is of Mediterranean background.

FBC: Hb 118 g/L, MCV 68 fL, Ferritin 55 µg/L. Hb electrophoresis shows elevated HbA2.

What is the most likely diagnosis?

Josephine Huo, aged 29, presents with heavy menstrual bleeding and bruising. No past medical history. No medications. Her mother had a history of bleeding after dental extractions.

FBC normal. Coagulation profile: PT normal, aPTT prolonged. Mixing study corrects the aPTT.

What is the most likely diagnosis?

Malik Farah, aged 47, presents with lethargy and a recent history of deep vein thrombosis. His past history includes ulcerative colitis. On examination he appears pale. FBC: Hb 103 g/L, MCV 88 fL, WBC 6.1 x10⁹/L, Platelets 360 x10⁹/L. Coags normal. Homocysteine level is elevated.

Which vitamin deficiency is the most likely contributor to his presentation?

Angela Deakin, aged 65, presents with increasing fatigue and weight loss. Her GP noted a high ESR and referred her for further testing. FBC: Hb 108 g/L, WBC 7.2 x10⁹/L, Platelets 480 x10⁹/L. Peripheral smear shows large platelets. JAK2 V617F mutation is positive.

What is the most likely diagnosis?

Oscar Williams, aged 56, presents with progressive fatigue and dark urine. He had a recent Mycoplasma pneumoniae infection treated with doxycycline. On examination, he appears pale and mildly jaundiced. No lymphadenopathy or splenomegaly.

FBC: Hb 85 g/L, reticulocytes elevated, indirect bilirubin elevated, Coombs test positive (IgM). Blood film shows spherocytes.

What is the most likely diagnosis?

Felicity Nash, aged 52, presents with fatigue and abdominal discomfort. She has a history of alcohol use disorder. Examination reveals hepatosplenomegaly. FBC: Hb 115 g/L, MCV 102 fL, WBC 3.8 x10⁹/L, Platelets 95 x10⁹/L. LFTs show elevated GGT and AST:ALT ratio >2.

What is the most likely cause of her pancytopenia?

Yasmin Saeed, aged 33, presents with gum bleeding and heavy periods. She has a known diagnosis of systemic lupus erythematosus. Examination reveals petechiae and no hepatosplenomegaly.

FBC: Hb 120 g/L, WBC 5.9 x10⁹/L, Platelets 14 x10⁹/L. Coags normal.

What is the most appropriate initial treatment?

Leo Zhang, aged 60, presents with fatigue and mild jaundice. He was recently started on trimethoprim for a UTI. Examination reveals mild pallor and scleral icterus. FBC: Hb 88 g/L, reticulocytes elevated. Blood film shows bite cells and Heinz bodies.

What is the most likely diagnosis?

Clare Bentley, aged 40, presents with lethargy and numbness in her hands and feet. Examination shows reduced vibration sense in the lower limbs. FBC reveals Hb 94 g/L, MCV 118 fL, WBC 4.5 x10⁹/L, Platelets 140 x10⁹/L. Peripheral smear shows hypersegmented neutrophils. Serum B12 is low.

What additional test would be most helpful in identifying the underlying cause?

Isobel Kerr, aged 36, presents with generalised fatigue and mild dyspnoea on exertion. She follows a vegan diet and denies alcohol or drug use. Examination shows a smooth, red tongue and mild pallor. FBC: Hb 88 g/L, MCV 115 fL. B12 and folate are both low.

What is the most appropriate initial management?

Michael Tan, aged 71, presents with fatigue and mild confusion. He has chronic kidney disease. Recent medications include trimethoprim for UTI. FBC: Hb 86 g/L, MCV 106 fL. Blood smear shows hypersegmented neutrophils. B12 is normal; folate is low.

What medication is most likely contributing to his anaemia?

Emily Rowe, aged 29, presents with a 6-week history of easy bruising and menorrhagia. No personal or family history of bleeding disorders. FBC: Hb 110 g/L, WBC 6.1 x10⁹/L, Platelets 16 x10⁹/L. Coagulation studies normal. Peripheral smear shows large platelets. HIV and Hep C are negative.

What is the most likely diagnosis?

Charlie Nguyen, aged 43, presents with episodic dark urine in the morning and abdominal pain. He has also had a recent DVT. Examination is unremarkable. FBC: Hb 98 g/L, reticulocytes elevated, LDH elevated, haptoglobin low. Coombs test negative.

What is the most likely diagnosis?

Clare Dowling, aged 66, presents with fatigue and a feeling of fullness in the abdomen. On examination, she has moderate splenomegaly but no lymphadenopathy. FBC: Hb 95 g/L, WBC 85 x10⁹/L, Platelets 250 x10⁹/L. Peripheral blood film shows increased granulocytes, basophils, and myelocytes. BCR-ABL positive.

What is the most appropriate initial treatment?

Ravi Chopra, aged 48, presents with recurrent venous thromboembolism despite therapeutic anticoagulation. He is otherwise well and non-smoking. No recent surgeries. Testing for inherited thrombophilia is negative. Lupus anticoagulant and anticardiolipin antibodies are positive on two occasions, 12 weeks apart.

What is the most likely diagnosis?

Lara Bennett, aged 72, presents with new onset fatigue and bone pain. On examination, she has pallor and no lymphadenopathy. Bloods: Hb 92 g/L, WBC 5.0 x10⁹/L, Platelets 140 x10⁹/L. Serum calcium 2.85 mmol/L. Serum protein electrophoresis shows an M-spike, and urine contains Bence Jones protein.

Which of the following investigations is most useful for confirming the diagnosis?

Nathan Yoo, aged 33, presents with new bruising and prolonged bleeding from shaving cuts. FBC shows Hb 130 g/L, WBC 7.4 x10⁹/L, Platelets 210 x10⁹/L. PT is normal, aPTT is prolonged. Mixing studies do not correct the aPTT.

What is the most likely cause?

Chantelle King, aged 27, presents with shortness of breath and fatigue. She follows a strict vegan diet and has been feeling increasingly unsteady on her feet. FBC: Hb 76 g/L, MCV 117 fL. B12 is low, folate is normal. Anti-intrinsic factor antibody is positive.

What is the most appropriate long-term management?

Alvin Matthews, aged 54, presents with weight loss, fatigue, and splenomegaly. FBC: Hb 102 g/L, WBC 65 x10⁹/L, Platelets 480 x10⁹/L. Blood smear shows increased granulocytes with left shift, basophilia, and eosinophilia. BCR-ABL1 testing is positive.

Which of the following medications targets the underlying pathology?

Julie Chen, aged 62, presents with generalised pruritus and facial flushing. She also experiences headaches. On examination, her spleen is palpable 2 cm below the costal margin. FBC: Hb 180 g/L, HCT 0.56, WBC 11 x10⁹/L, Platelets 430 x10⁹/L. JAK2 V617F positive.

What is the most appropriate initial management?

Rebecca Ford, aged 30, presents with heavy periods and recurrent nosebleeds. She has a family history of similar symptoms. Platelet count and coagulation studies are normal. Ristocetin cofactor activity is reduced, and VWF antigen is low.

What is the most likely diagnosis?

Zaid El-Amir, aged 38, presents with leg swelling and pain. Doppler ultrasound confirms a proximal DVT. He has no prior VTE or malignancy. Antithrombin III level is low during follow-up testing.

What is the most appropriate long-term management?

Naomi Fraser, aged 45, presents with increasing fatigue and pale skin. FBC: Hb 74 g/L, MCV 68 fL, Ferritin 4 µg/L. She reports regular blood donation every 3 months.

What is the most likely cause of her anaemia?

Oliver Tsai, aged 26, presents after returning from a trip to sub-Saharan Africa with fever, chills, and dark urine. On examination, he is febrile and jaundiced. Blood smear shows intraerythrocytic parasites.

What is the most likely diagnosis?

Karen Dalton, aged 58, presents with fatigue and a recent episode of epistaxis. FBC: Hb 110 g/L, WBC 7.9 x10⁹/L, Platelets 102 x10⁹/L. Coagulation studies are normal. Liver function tests show elevated bilirubin and ALP. Abdominal ultrasound shows hepatosplenomegaly.

What is the most likely underlying cause?

Dinesh Kapoor, aged 50, presents with pallor and exertional dyspnoea. He follows a vegetarian diet. FBC: Hb 92 g/L, MCV 115 fL. B12 and folate are both low. Reticulocyte count is low.

What is the best explanation for his anaemia?

Linda Kerr, aged 59, presents with persistent lymphocytosis on routine blood testing. She is asymptomatic. FBC: Hb 130 g/L, WBC 18 x10⁹/L with 70% lymphocytes, Platelets 210 x10⁹/L. Peripheral smear shows smudge cells. No lymphadenopathy or hepatosplenomegaly.

What is the most appropriate next step?

Peter D’Agostino, aged 65, presents with fatigue and mild jaundice. He recently started co-trimoxazole. FBC: Hb 90 g/L, Retic count elevated, LDH high, haptoglobin low. Blood film shows bite cells. G6PD level is reduced.

What is the most important management step?

Amira Hassan, aged 42, presents with increasing fatigue. She reports irregular menstrual cycles and occasional heavy bleeding. FBC: Hb 94 g/L, MCV 72 fL, Ferritin 9 µg/L. TFTs, renal function and LFTs are normal.

What is the most appropriate investigation to identify the underlying cause?