Platypnoea, clubbing, and epistaxis in a 61-year-old man

In May, 2009, a 61-year-old man presented with a spontaneous nosebleed, a 2-month history of worsening shortness of breath, and platypnoea. He suff ered from frequent epistaxis. The only abnormalities on physical examination were telangiectasia of his nasal mucosa, pallor, and clubbing. Oxygen saturation on room air was 92% lying down, and 83% sitting; arterial blood oxygen was 62 mm Hg. Haemoglobin concentration was 68 g/L, MCV was 51 fL, and reticulocyte count was 1%. Investigations for anaemia revealed severe iron defi ciency. A chest radiograph showed a mass in the right lower lobe (fi gure A), and contrast-enhanced CT revealed multiple pulmonary arteriovenous malformations (fi gure B). On the basis of the history of recurrent epistaxis with telangiectasia and pulmonary arteriovenous malformations, hereditary haemorrhagic telangiectasia (HHT) was diagnosed. We found a single arteriovenous malformation in the cerebellum during screening of other organs. A contrast-enhanced abdominal CT was normal and endoscopy excluded bleeding into the gastrointestinal tract; we decided that epistaxis was the cause of our patient’s anaemia. We treated his epistaxis with endonasal coagulation, and the feeding arteries of his pulmonary arteriovenous malformations were embolised; his platypnoea dramatically improved. He decided to leave his cerebellar aneurysm untreated, after considering risks and harms of treatment. He was discharged on oral tranexamic acid and iron treatment. A chest CT in November, 2009, showed no reperfusion of his arteriovenous malformations, and he remained asymptomatic. The patient and his family underwent genetic testing for HHT, but no known causal mutations were identifi ed. HHT is inherited as an autosomal-dominant trait. Mutations in genes that modulate signalling by transforming growth factor β lead to aberrant vasculogenesis. Manifestations generally present in early adulthood; recurrent epistaxis is the earliest and most common symptom and can cause iron-defi ciency anaemia, as in our patient. Telangiectases and arteriovenous malformations can also occur in the pulmonary, gastrointestinal, and hepatic vasculature. Pulmonary arteriovenous malformations can grow and reperfuse with time, and cause life-threatening complications, such as stroke and cerebral abscess due to paradoxical embolisation. Our patient became dyspnoeic possibly owing to progressive growth of his pulmonary arteriovenous malformations and worsening anaemia. Hypoxaemia, platypnoea, and clubbing also occur when shunted blood is not oxygenated. The re commended screening test for pulmonary arteriovenous malformations is transthoracic contrast echocardio graphy. Chest CT is confi rmatory. Endoscopy is needed to exclude gastrointestinal arterio venous malformations, and doppler ultrasonography or abdominal CT is used to seek malformations in the liver. Cerebral malformations are usually clinically silent but can cause seizures and haemorrhage; contrast MRI is a safe method of screening for these malformations. Angiography is the goldstandard test to diagnose any arteriovenous malformation. HHT is diagnosed clinically on the basis of epistaxis, telangiectases, visceral arteriovenous malformations, and a fi rst-degree relative with the disease. HHT is defi nite if more than three of these criteria occur. Endonasal humidifi cation or coagulation can treat epistaxis and gastrointestinal bleeding can be controlled by endoscopic ablation. Medical treatment includes oestrogen preparations and antifi brinolytics to limit bleeding; clinical trials of angiogenesis inhibitors, immuno suppressants, and thalidomide are underway. Pulmonary arteriovenous malformations should be embolised. Antibiotic prophylaxis is required before procedures that carry a risk of bacteraemia. Asymptomatic cerebral arteriovenous malformations should be managed only after discussion of the risks and benefi ts with the patient.