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Hereditary hemorrhagic telangiectasia: diagnosis and management.
MedLine Citation:
PMID:  20879701     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect the nose, skin, gastrointestinal tract, lungs, liver, and brain. Epistaxis is the most common presenting problem, occurring in 90 percent of affected patients. Approximately 15 to 30 percent of patients with hereditary hemorrhagic telangiectasia will have an arteriovenous malformation in the lungs and more than 10 percent will have one in the brain. The symptoms of hereditary hemorrhagic telangiectasia are often unrecognized. Many patients, even those with affected family members, may go undiagnosed. Hereditary hemorrhagic telangiectasia is a clinical diagnosis that is based on the presence of three of four criteria (i.e., epistaxis, telangiectasias, visceral arteriovenous malformations, or family history of the disease). Screening and treatment recommendations have been created in an attempt to limit the morbidity and mortality associated with this disease. Patients with confirmed or suspected hereditary hemorrhagic telangiectasia should be screened for brain and lung arteriovenous malformations using magnetic resonance imaging of the brain and contrast echocardiography. Pulmonary arteriovenous malformations can be treated with embolization. Patients with a history of pulmonary arteriovenous malformations or those who have not been screened should use antibiotic prophylaxis before dental treatment, endoscopy, or other procedures that could cause bacteremia because of the risk of paradoxical brain embolism or infection.
Authors:
Scott E Olitsky
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American family physician     Volume:  82     ISSN:  1532-0650     ISO Abbreviation:  Am Fam Physician     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  1272646     Medline TA:  Am Fam Physician     Country:  United States    
Other Details:
Languages:  eng     Pagination:  785-90     Citation Subset:  AIM; IM    
Affiliation:
Children's Mercy Hospitals and Clinics, Kansas City, MO 64108, USA. seolitsky@cmh.edu
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