Clinical and endoscopic features of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) in India.

ABSTRACT

Hereditary hemorrhagic telangiectasis (HHT) is an autosomal dominant disease characterized by recurrent epistaxis and telangiectasia of the skin and mucous membranes. Most reports of HHT are from Europe and N. America. In this report of 7 patients from India we postulate that increased skin pigmentation in Asians and Negroids masks the cutaneous manifestations of the disease but without any discernible effect on mucosal lesions. The median hemoglobin value in these patients was 4 g/dl. Endoscopic lesions in the stomach or duodenum were detected in six patients. Most patients in our report (5/7) presented with a chronic iron deficiency anaemia. The treatment of HHT is mainly supportive although our preliminary data shows that low dose ethinyl estradiol therapy decreases transfusion requirement in these patients.