Tijdschrift voor Geneeskunde vol:65 issue:10 pages:452-460
Hereditary Hemorrhagic Telangiectasia: case report and literature review.
Hereditary Haemorrhagic Telangiectasia, also known as Osler-Weber-Rendu syndrome, is an autosomal dominant vascular multisystem disease, affecting approximately 1 in 8000 individuals. The characteristic vascular dysplasia is due to an alteration in signal transduction of the vascular endothelium. Mutations in four different genes have been identified. Clinical manifestations range from epistaxis, gastrointestinal haemorrhage, iron deficiency anemia and mucocutaneous telangiectasia, to life-threatening events caused by pulmonary, hepatic or cerebral involvement.
Diagnosis and screening are based on history, clinical examination and technical investigations (blood analysis, imaging and molecular genetics). Presently only screening for pulmonary involvement is generally accecpted, in contrast with cerebral, hepatic and other screening modalities. Genetic screening is performed on relatives once a mutation is detected in an index patient. Treatment consists of a local and/or systemic therapy of vascular lesions, anemia and other symptoms (heart failure, portal hypertension, ...). Life quality and expectancy of the patient are significantly reduced. Still prognosis strongly depends on an adequate diagnosis, screening and treatment.
The clinical history of a 63-year-old male patient with Hereditary Haemorrhagic Telangiectasia is reported and a literature review given on the epidemiology, pathogenesis, clinical manifestations, diagnosis and screening of patients and relatives, treatment options and prognosis of the disease.