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Hereditary Haemorrhagic Telangiectasia with Severe Anemia and Recurrent CNS Infections
Nrushen Peesapati1, Pbpr Naidu1, S Sunitha2
1Resident.
Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can result in anaemia, patients with hereditary haemorrhagic telangiectasia rarely presents as severe anaemia1 or CNS infections. Herein, we report the case of a 57 year-old man who presented with severe anaemia resulting in congestive cardiac failure with history of recurrent blood transfusions and recurrent CNS infections which ultimately was diagnosed as hereditary haemorrhagic telangiectasia.
Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can result in anaemia, patients with hereditary haemorrhagic telangiectasia rarely presents as severe anaemia1 or CNS infections. Herein, we report the case of a 57 year-old man who presented with severe anaemia resulting in congestive cardiac failure with history of recurrent blood transfusions and recurrent CNS infections which ultimately was diagnosed as hereditary haemorrhagic telangiectasia.
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