an inherited condition characterized by abnormal blood vessels which are delicate and prone to bleeding. Hereditary hemorrhagic telangiectasia is also known as Rendu-Osler-Weber disease.
It stands for hereditary hemorrhagic telangiectasia. It's a disorder that results in the development of multiple abnormalities in the blood vessels. In future if you have questions like that you could google them.
Recurrent nosebleeds are a nearly universal symptom in this condition. Usually the nosebleeds begin in childhood and become worse with age.
by applying compresses or direct pressure to the area. If necessary, a laser can be used to destroy the vessel. In severe cases, the leaking artery can be plugged or covered with a graft from normal tissue.
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.
no i don't think so. i have it and i have tried to learn a lot about it and while high blood pressure may be something you have to deal with along side the HHT i am pretty sure it is not an actual symptom of the disease
no
Diagnosis relies on recognizing the hallmarks of A-T: progressive ataxia and telangiectasia. However, this may be difficult as ataxia symptoms do appear prior to telangiectasia symptoms by several years
Ataxia-telangiectasia (A-T) is a rare, genetic neurological disorder that progressively affects various systems in the body.
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]
Ehlers-Danlos syndrome (EDS) and Hereditary Hemorrhagic Telangiectasia (HHT) are distinct genetic conditions and are not commonly found together as a pair in genetics. EDS primarily affects connective tissues, while HHT is a vascular disorder. Although both conditions can have overlapping symptoms, such as easy bruising, their underlying genetic causes are different. Co-occurrence of both syndromes in an individual is rare but can happen due to unrelated genetic factors.
Bluish-purple skin can be indicative of a genetic disorder known as methemoglobinemia, where an abnormal amount of methemoglobin—a form of hemoglobin that cannot effectively release oxygen to tissues—accumulates in the blood. This condition can be inherited or acquired and results in a characteristic skin discoloration known as cyanosis. Other genetic disorders that might cause similar symptoms could include certain forms of Ehlers-Danlos syndrome or hereditary hemorrhagic telangiectasia, but methemoglobinemia is the most directly associated with bluish-purple skin.
Capillary telangiectasia is a rare condition where tiny dilated blood vessels (capillaries) are present in the brain or spinal cord. These abnormal blood vessels can cause neurological symptoms such as headaches, seizures, or weakness, and may increase the risk of bleeding in the affected area. Treatment options depend on the location and symptoms of the telangiectasia.