Gross hematuria due to acquired haemophilia in hereditary hemorrhagic telangiectasia.
Hereditary haemorrhagic telangiectasia (HHT, Osler-Weber-Rendu syndrome) is a rare inherited disease; acquired haemophilia, caused by factor VIII inhibitors, is a rare autoimmune disorder. Both diseases cause bleeding manifestations. We report a case of a young woman affected by hereditary haemorrhagic telangiectasia who was admitted to our unit because of gross hematuria. The prolonged activated partial thromboplastin time suggested us the possibility of a bleeding cause other than hereditary haemorrhagic telangiectasia. The test result for factor VIII inhibitors resulted positive and a diagnosis of acquired haemophilia was made. The patient was treated with frozen fresh plasma and with activated eptacog alpha and a steroid therapy was started. After she received steroid, factor VIII inhibitor titre decreased and activated partial thromboplastin time gradually recovered. After 2 weeks a complete normalization of activated partial thromboplastin time was obtained. Acquired haemophilia is a life-threatening disorder. Measuring factor VIII activity and its inhibitor in patients with bleeding and a prolonged activated partial thromboplastin time are recommended even in patients affected by other known hemorrhagic disease.
De Pascalis
Antonio
A
Nephrology, Dialysis and Transplantation Unit, V. Fazzi Hospital, Lecce, Italy. depascalis.a@libero.it
Napoli
Marcello
M
Aprile
Maria
M
Antonaci
Assunta
A
D'Amelio
Alessandro
A
Buongiorno
Erasmo
E
D000328:Adult; D005260:Female; D006417:Hematuria / Q000209:etiology*; D006467:Hemophilia A / Q000150:complications*; D006801:Humans; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications*