Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, mucocutaneous telangiectasia with systemic manifestations due to visceral telangiectasia and arterio-venous malformations (AVMs). We describe unusual complications of HHT in a 68-year-old male who developed high-output cardiac failure with pulmonary hypertension in combination with hepatic...

Ataxia-telangiectasia is a recessive genetic disorder (ATM is the mutated gene) of childhood with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asymptomatic. Structural brain imaging and post-mortem studies in individuals with ataxia-telangiectasia have reported cerebellar atrophy; but abnormalities of motor control characteristic of extrapyramidal dy...

Hereditary hemorrhagic telangiectasia is an autosomal dominant disease in which arteriovenous communications are typically seen in the skin, mucosal surfaces, lungs, brain and gastrointestinal tract. This disease typically presents as epistaxis, gastrointestinal bleeding and arteriovenous malformations (in the brain and lungs). Although the epistaxis and gastrointestinal bleeding can result in ...

Ataxia telangiectasia (A-T) is a genetic syndrome characterized by cerebellar degeneration, telangiectasia, immunodeficiency and cancer predisposition. A-T occurs in between 1 in 40,000 and 1 in 100,000 live births. The first symptoms normally occur in early childhood when the infant begins to walk. Affected children have immunodeficiency and an increased predisposition for cancers. A-T is caus...

BACKGROUND AND PURPOSE The treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia can be very challenging. The purpose of our study was to evaluate our experience with endovascular epistaxis embolization in patients with hemorrhagic hereditary telangiectasia and to compare this with our experience in patients treated for idiopathic epistaxis. MATERIALS AND METHODS Over ...

It is well established that genetic predisposition (/) and environmental exposure to ionizing radiation (2) each play an important role in the etiology of breast cancer. In this issue of the Journal, Lavin et al. (3) address the important possibility that some individuals are predisposed to breast cancer because they are more susceptible than the rest of the population to the carcinogenic effec...