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Tiny pinpoint red spot on exposed skin3/21/2024 ![]() Pulmonary AVMs should be sought on diagnosis, and antibiotic prophylaxis is needed for surgical/dental procedures for patients with pulmonary AVMs because of the risk of septic emboli. What management interventions would be helpful? Answer 4 His epistaxis was treated with moisturising topical therapies to keep the nasal mucosa moist.Īfter counselling, he underwent genetic testing, and a mutation of ACVRL1 was identified, leading to a formal diagnosis of HHT. The patient was referred for ENT, genetics and internal medicine consultations for suspected HHT. 4,5 Relatives should be counselled regarding genetic testing if the index case has a recognised gene mutation. SMAD4 is associated with both HHT and juvenile polyposis syndrome. This disorder involves mutations of ENG or ACVRL1 genes in 85–96% of cases and several other genes infrequently. Prevalence of lesions increases with age and is (approximately): cutaneous telangiectasia (75–90%), epistaxis (78–96%), gastrointestinal (75–80%), hepatic (32–78%), pulmonary (15–60%), cerebral (10–23%) and spinal (1%) AVMs. 4 A negative gene test does not exclude the diagnosis. Three or more features are diagnostic of HHT two features make HHT possible/suspected, and no features or one feature make HHT unlikely but still possible in a child. 3 Four criteria are identified: spontaneous and recurrent epistaxis, multiple mucocutaneous telangiectases in characteristic areas (lips, oral cavity, nose, fingers), visceral involvement (gastrointestinal, liver, lung, central nervous system) and a first-degree family member with HHT. The Curaçao criteria 4 aid clinical diagnosis and allow identification of this condition (with genetic testing performed in select circumstances). 3 Mucocutaneous telangiectases and solid organ AVMs occur, with age-related penetrance. The combination of recurrent epistaxis, iron deficiency anaemia and mucocutaneous telangiectases suggest hereditary haemorrhagic telangiectasia (HHT also called Osler–Weber–Rendu disease), an autosomal dominant condition affecting approximately one in 5000 people. 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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