Hereditary hemorrhagic telangiectasia: A case report

We report on the clinical presentation of a Saudi Arab with hereditary hemo rrhagic telangiectasia (Osler-Rendu-Weber syndrome). The gastric, ileocecal and pharyngeal telangiectases, that are prominent in this patient, were oc casionally sites of serious episodes of bleeding. The lung lesions are mult iple, small and discrete telangiectases but are clinically considered non-s ignificant since the patient did not suffer from hemoptysis. The liver and brain are apparently not affected. A recent blood investigation of the pati ent revealed normal hematological parameters. The pedigree record of the pa tient's family showed that 61 out of 156 individuals in 6 generations are a ffected with the disease. Hereditary hemorrhagic telangiectasia follows an autosomal dominant mode of inheritance with high penetrance and variable ex pression. Generally, the gastrointestinal, brain and pulmonary lesions asso ciated with the disease are sources of substantial morbidity and can lead t o mortality in severe cases. The investigational history and the recommende d strategy for symptomatic treatment are presented.