16/02/2025 – Haem and Vascular

Question Easy:
A 45-year-old woman presents to the GP with fatigue, pallor, and a craving to eat ice. On examination, she has koilonychia. Blood tests reveal a haemoglobin level of 9 g/dL and a mean corpuscular volume (MCV) of 72 fL. Which of the following is the most likely diagnosis?
A) Thalassaemia
B) Anaemia of chronic disease
C) Iron deficiency anaemia
D) Vitamin B12 deficiency
E) Sickle cell anemia

Question Medium:
A 65-year-old man with a history of chronic atrial fibrillation is brought to the emergency department with left leg pain and pallor. The leg is cold and there are no detectable pulses. He is not on any anticoagulation therapy. Which of the following is the most likely underlying pathophysiology for his condition?
A) Atherosclerotic plaque rupture
B) Thromboembolism from the left atrium
C) Deep vein thrombosis
D) Peripheral artery dissection
E) Vasculitis

Question Hard:
A 50-year-old woman presents with a history of recurrent nosebleeds, telangiectasia on her face and hands, and a recent episode of massive haemoptysis. Her father had similar symptoms. Genetic testing reveals a mutation in the ENG gene. Which of the following is the most likely diagnosis?
A) Haemophilia A
B) Hereditary haemorrhagic telangiectasia
C) Von Willebrand disease
D) Ehlers-Danlos syndrome
E) Sturge-Weber syndrome

Explanations & Answers:

Question Easy Answer: C) Iron deficiency anaemia
Question Easy Explanation: The presentation of fatigue, pallor, koilonychia (spoon-shaped nails), and pica (such as craving to eat ice) are classic signs of iron deficiency anaemia. The laboratory findings of low haemoglobin and microcytic anaemia (low MCV) further suggest this diagnosis.

Question Medium Answer: B) Thromboembolism from the left atrium
Question Medium Explanation: In patients with atrial fibrillation, blood clots can form in the left atrium due to stasis and irregular blood flow. These clots can embolise and lodge in systemic arteries, causing acute limb ischaemia, characterized by pain, pallor, pulselessness, and paresthesia. This is an urgent condition that requires prompt intervention.

Question Hard Answer: B) Hereditary haemorrhagic telangiectasia
Question Hard Explanation: Hereditary haemorrhagic telangiectasia (also known as Osler-Weber-Rendu syndrome) is an autosomal dominant condition characterized by telangiectasia, recurrent nosebleeds, and potentially life-threatening arteriovenous malformations (such as in the lungs, brain, or liver). The ENG gene mutation confirms the diagnosis, as it is one of the genes associated with this condition.

Medical fact of the day: Did you know that the UK has a high prevalence of iron deficiency anaemia, particularly among young women? It’s often due to dietary insufficiencies or increased iron demand during menstruation.

Quote of the day: “In the care of others, we discover the best version of ourselves. In every effort, every patient, let’s find joy in the journey.” 🌟