Hereditary hemorrhagic telangiectasia, liver disease and elevated serum testosterone (Osler–Weber–Rendu syndrome): a case report

Abstract

Background A Sri Lankan girl with hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) is described.Case presentationShe presented with recurrent spontaneous epistaxis, pulmonary arterio venous malformation and oral telangiectasia. A diagnosis of Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) was made based on the presence of three Curacao criteria (out of four). Evaluations of her jaundice revealed chronic parenchymal liver disease with multiple nodules in the liver with early portal hypertension. She had a muscular build, with elevated serum testosterone but low serum dehydroepiandrosterone sulphate levels. This could be attributed to impaired sulfation of dehydroepiandrosterone due to portocaval shunting of blood, leading to hyperandrogenemia.ConclusionsHyperandorogenemia due impaired sulfation of dehydroepiandrosterone as a result of portocaval shunting is seen in Hereditary haemorrhagic telangiectasia.

Orthotopic Liver Transplantation for Hereditary Hemorrhagic Telangiectasia and MEN Type I Syndrome - Case Report and Review of Literature

“…More recently, hyperandrogenemia due to impaired sulfonation of dehydroepiandrosterone as a result of portocaval shunting has been described in a young girl (61).…”

Regenerative Nodules and Liver Tumors in Vascular Liver Diseases

“…Consequently, regenerative nodules, such as LRN, FNH and FNH-like lesions, are much more frequently observed. HCA and HCC have not been described in the literature [18,[61][62][63][64][65].…”