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What are the signs and symptoms of hereditary hemorrhagic telangiectasia?
Wiki User
∙ 13y ago
as small, red or reddish-violet spots on the face, lips, inside the mouth and nose or the tips of the fingers and toes. Other small telangiectasias may occur in the digestive tract.
Wiki User
∙ 13y ago
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Osler-Weber-Rendu syndrome?
DefinitionOsler-Weber-Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding.Alternative NamesHereditary hemorrhagic telangiectasia; HHTCauses, incidence, and risk factorsOsler-Weber-Rendu syndrome is an inherited condition. It can affect males or females of any ethnic or racial group.People with this condition can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. If they are on the skin, they are called telangiectasias. The AVMs can also develop in other areas of the body, such as the brain, lungs, liver, or intestines.The syndrome is genetic, which means it results from an abnormality in one of a few genes. Scientists have identified some of the genes involved. However, they do not know exactly how the gene defects lead to the abnormal blood vessels seen in persons with this syndrome.SymptomsFrequent nosebleeds in childrenGI bleeding, including loss of blood in the stool or dark black stoolsPort wine stainSeizures or unexplained, small strokes (from bleeding into the brain)Shortness of breathTelangiectases on the tongue, lips, nasal mucosa, face, ears, fingertips, nails, whites of the eyes, and skin (they may bleed easily)Signs and testsAn experienced health care provider can detect telangiectases during a physical examination. There is often a family history of hereditary hemorrhagic telangiectasia.Signs include:Abnormal blood vessels that bleed easily in the throat, bowels, or airwaysAVM seen on chest x-rayDecreased oxygen levels in the bloodHeart failureHepatomegalyIron deficiency anemiaTests include:Blood gas testsBlood testsEchocardiogramEndoscopyGenetic testing may be available for changes (mutations) in the endoglin or ALK1 genes.TreatmentTreatments include:Surgery to treat bleeding in some areasElectrocauteryor laser surgery to treat frequent or heavy nosebleedsEndovascular embolization to treat abnormal blood vessels in the brain and other parts of the bodySome patients respond to estrogen therapy, which can reduce bleeding episodes. Avoid taking blood-thinning medications.Some patients may need to take antibiotics before having dental work or surgery. Ask your doctor what precautions you should take.Support GroupsHHT Foundation International -- www.hht.orgExpectations (prognosis)People with this syndrome can live a completely normal lifespan, depending on the parts of the body where the AVMs are located.ComplicationsHeart failureHigh blood pressure in the lungs (pulmonary hypertension)Internal bleedingShortness of breathCalling your health care providerCall your health care provider if your child has frequent nose bleeds or other signs of this disease.PreventionGenetic counseling is recommended for couples who want to have children and who have a family history of hereditary hemorrhagic telangiectasia. Medical treatments can prevent certain types of strokes and heart failure.ReferencesAzuma H: Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest. 2000 Aug; 47(3-4): 81-90.Faughnan ME, Hyland RH, Nanthakumar K, Redelmeier DA: Screening in hereditary hemorrhagic telangiectasia patients. Chest. 2000 Aug; 118(2): 566-7.Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009 Apr 1. [Epub ahead of print]
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