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Office
Dr. James Gossage, MD,
Director
Section of Pulmonary
1120 15th Street
BBR5513
Augusta, GA 30912-3130
Phone: (706) 721-6791
Fax: (706) 721-3069
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Phone: (706) 721-1790
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Hereditary Hemorrhagic Telangiectasia
HHT at a glance
Hereditary Hemorrhagic Telangiectasia (HHT) (AKA Olser-Weber-Rendu) is a genetic disorder that affects blood vessels in many parts of the body.
It is uncommon, but not rare. About 1 out of 10,000 people in the United States are affected, and as many as 6 million people worldwide have HHT.
Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions; these represent abnormal connections between arteries and veins in which the small capillaries that normally join the arteries and veins are missing.
HHT has extremely variable expression in terms of both location of lesions and severity of symptoms, even between close relatives. .
It is frequently misdiagnosed in affected individuals.
The most commonly affected organs are the nose, skin, lungs, gastrointestinal tract and brainin that order.
HHT is an autosomal dominant genetic disorder, which means that it can be passed onto children from one parent; on average, about half of children will be affected.
90-95% of individuals with HHT will develop nose bleeds by adulthood, but severity varies from infrequent and minor to daily and severe.
90-95% develop at least a few telangiectasia on the skin of the face and/or hands by middle age; these typically appear as purple spots 1/16 to 1/8" in diameter, but they can be pin point in size.
30% have lung or pulmonary arteriovenous malformation
(PAVM) 20% develop significant stomach or intestinal bleeding, but not usually before age 50.
10-15% have at least one brain or cerebral AVM (CAVM).
An unknown percentage have liver AVM.
The severity of epistaxis or telangiectases of the skin does not correlate with the likelihood to have internal AVM (i.e. brain or
PAVM) Without treatment,
PAVM are a common cause of stoke and brain abscess in HHT families. Without treatment, brain AVM are a common cause of hemorrhagic stroke in HHT families.
Treatments are available for almost all symptoms of HHT and have evolved significantly in the last decade.
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Medical College of Georgia
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Department
of Medicine |
Medical College of
Georgia
September 12, 2008
Please email questions and comments to:
James Gossage, MD