Osler-Rendu-Weber disease with severe anemia and recurrent C
Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease 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 anaemia or CNS infections. One such case has been present in the Journal of the Association of Physicians of India.

A 57 year old male with history of recurrent blood transfusions was admitted with complaints of dyspnoea on exertion, easy fatiguability and pedal oedema since 1 month. He also had history of recurrent spontaneous epistaxis since childhood around 3-4 episodes per month.

On probing, patient admitted that some of his family members also had recurrent epistaxis and telengectasias over fingers and tongue. Neither the patient nor his family members were labelled with any specific diagnosis before this presentation. Detailed family history was taken to document mode of inheritance.

The family history clearly revealed the epistaxis had occurred in generation in a pattern indicative of autosomal dominant inheritance. Physical examination revealed marked pallor, bilateral pitting type of pedal oedema, raised jugular venous pressure. On careful observation capillary telangiectasias were present on dorsum of tongue and finger tips.

On auscultation, there was a continuous murmur of grade 5/6 heard over the left interscapular region which is suggestive of AV malformation and confirmed by colour doppler imaging.
So in view of recurrent epistaxis, autosomal dominant nature of inheritance from pedigree, Mucocutaneous and visceral telangiectasias diagnosis of HHT was made (Curacao criteria)

Investigations was suggestive of severe anemia which was microcytic and hypochromic with normal thrombocytes and normal coagulation profile. Upper gastrointestinal endoscopy revealed multiple telengectatic lesions in duodenum suggestive of visceral arteriovenous malformations.

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