![]() ![]() 1 AVMs are communications between the arterial and venous circulation without normal intervening capillaries. In contrast, purpura, or mucocutaneous bleeding, are classified as petechiae (<2 mm) or ecchymoses (≥2 mm) and do not blanch to pressure. They can be arterioles, capillaries or venules. These lesions are telangiectases, which are visible, dilated small blood vessels. What are the genetics of this disease? Answer 1 What is this disease, and what conditions are associated with this disease? Question 3 What are these lesions? What is the difference between telangiectases, arteriovenous malformations (AVMs) and purpura? Question 2 International normalised ratio, activated partial thromboplastin time and platelet count were normal. Iron studies showed iron 3.61 µmol/L (reference range 5.83–34.50 µmol/L), total iron binding capacity 68 µmol/L (reference range 45–80 µmol/L) and iron saturation 5% (reference range 15–45%). His results included haemoglobin 78 g/L (reference range 130–170 g/L), microcytic anaemia, glycated haemoglobin 41 mmol/mol (5.9%), and normal lipids and liver function tests. His blood pressure was 111/66 mmHg, and his body mass index was 27.8 kg/m 2. Oral and ear, nose and throat (ENT) examinations were normal, with no obvious bleeding points. He had no melena or bleeding symptoms from other sites.Įxamination of the skin revealed blanching lesions on the fingertips, face, ears and upper neck. He had no known relatives with similar skin lesions but a strong family history of cerebral haemorrhage (father at 62 years of age, brother at 44 years of age, paternal grandfather at 65 years of age and son at 16 years of age). ![]() He was married and had a son and daughter. His medical history included essential hypertension (nine years), a rash to sulfonamide medications and a family history of diabetes. The skin lesions had been present for nine years. The patient also reported near-daily nosebleeds from three years of age, which subsided with local pressure. Multiple pinhead-sized flat red spots on the patient’s hands At the consultation, multiple pinhead-sized flat red spots were noticed on his fingers and face (Figure 1).įigure 1. A male engineer aged 47 years attended his general practice for blood test results.
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