Hereditary hemorrhagic telangiectasia: a case report

ABSTRACT

We report on the clinical presentation of a Saudi Arab with hereditary hemorrhagic telangiectasia [Osler-Rendu-Weber syndrome]. The gastric, ileocecal and pharyngeal telangiectases, that are prominent in this patient, were occasionally sites of serious episodes of bleeding. The lung lesions are multiple, small and discrete telangiectases but are clinically considered non-significant since the patient did not suffer from hemoptysis. The liver and brain are apparently not affected. A recent blood investigation of the patient revealed normal hematological parameters. The pedigree record of the patient's family showed that 61 out of 156 individuals in 6 generations are affected with the disease. Hereditary hemorrhagic telangiectasia follows an autosomal dominant mode of inheritance with high penetrance and variable expression. Generally, the gastrointestinal, brain and pulmonary lesions associated with the disease are sources of substantial morbidity and can lead to mortality in severe, cases. The investigational history and the recommended strategy for symptomatic treatment are presented