A rare cause of epistaxis: Osler–Weber–Rendu disease

Abstract

Background. Rendu-Osler disease is a rare genetic disease, with suggestive clinical manifestations: recurrent epistaxis, telangiectasias and visceral vascular abnormalities. Case report. A 40-year-old patient presents to the emergency room for asthenia, dyspnea, recurrent epistaxis and headache. Patient’s history revealed that her mother and aunt died from a liver disease and the two also presented epistaxis. At the physical examination, pallor, discrete edemas, tachycardia and systolic murmur were noticed. Biologically, there was an iron deficiency anemia. The ENT examination revealed a vegetative nasal septum formation, which was biopsied. Abdominal ultrasound revealed a hypoechogenic formation, in the proximity of the pancreas tail, for which angioCT was performed, describing several splenic aneurysms and a particular aspect of hepatic vascularization. This pattern is suggestive for intrahepatic arteriovenous malformations. For the differential diagnosis: bacterial endocarditis, cirrhosis, connective tissue disease or vasculitis were taken into consideration. Resumption of the clinical examination allowed the discovery of a small telangiectasia of the upper lip. Based on the Curacao criteria, the diagnosis was established (3 out of 4: epistaxis, telangiectasia and a positive family history of a relative of the first degree). Further investigations were made in order to detect other possible abnormalities. Signs of pulmonary hypertension and heart failure were identified, complications secondary to the liver arteriovenous malformations. The patient received treatment with iron, initially parenterally, later orally. Selective embolization of the largest of the splenic artery aneurysms was performed, taking into account the risk of rupture. Iron therapy was maintained as a primary treatment. The patient is monitored biannually for the liver and heart disease. Screening for the family members was recommended.Conclusions. Rendu-Osler disease is an incurable disease, but with a normal life expectancy if the complications of the disease are diagnosed and treated early. The particularity of the case comes from the incidental discovery of only one telangiectasia that allowed for the correct diagnosis.