Hereditary hemorrhagic telangiectasia (patient information): Difference between revisions
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{{Hereditary hemorrhagic telangiectasia (patient information)}} | |||
'''For the WikiDoc page for this topic, click [[Hereditary hemorrhagic telangiectasia|here]]''' | '''For the WikiDoc page for this topic, click [[Hereditary hemorrhagic telangiectasia|here]]''' | ||
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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]]. | 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]]. | ||
==Who is at risk | ==Who is at highest risk?== | ||
This is a [[genetic]] disorder, so people at risk are those who have a [[family history]] of [[hereditary hemorrhagic telangiectasia]]. | This is a [[genetic]] disorder, so people at risk are those who have a [[family history]] of [[hereditary hemorrhagic telangiectasia]]. | ||
== | ==Diagnosis== | ||
An experienced [[health care provider]] can detect [[telangiectases]] during a [[physical examination]]. There is often a [[family history]] of [[hereditary hemorrhagic telangiectasia]]. | An experienced [[health care provider]] can detect [[telangiectases]] during a [[physical examination]]. There is often a [[family history]] of [[hereditary hemorrhagic telangiectasia]]. | ||
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[[Genetic testing]] may be available for changes ([[mutations]]) in the [[endoglin]] or ALK1 genes. | [[Genetic testing]] may be available for changes ([[mutations]]) in the [[endoglin]] or ALK1 genes. | ||
==When to seek urgent medical care== | ==When to seek urgent medical care?== | ||
Call your [[health care provider]] if your child has frequent [[nose bleeds]] or other signs of this [[disease]]. | Call your [[health care provider]] if your child has frequent [[nose bleeds]] or other signs of this [[disease]]. | ||
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Some patients may need to take [[antibiotics]] before having dental work or [[surgery]]. Ask your doctor what precautions you should take. | Some patients may need to take [[antibiotics]] before having dental work or [[surgery]]. Ask your doctor what precautions you should take. | ||
==Where to find medical care for Hereditary hemorrhagic telangiectasia== | ==Where to find medical care for Hereditary hemorrhagic telangiectasia?== | ||
[http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hereditary hemorrhagic telangiectasia}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed Directions to Hospitals Treating Hereditary hemorrhagic telangiectasia] | [http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hereditary hemorrhagic telangiectasia}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed Directions to Hospitals Treating Hereditary hemorrhagic telangiectasia] | ||
==Prevention | ==What to expect (Outlook/Prognosis)?== | ||
People with this [[syndrome]] can live a completely normal [[lifespan]], depending on the parts of the body where the [[AVMs]] are located. | |||
==Prevention== | |||
[[Genetic counseling]] is recommended for couples who want to have children and who have a [[family history]] of [[hereditary hemorrhagic telangiectasia]]. [[Medical]] [[treatment]]s can prevent certain types of [[strokes]] and [[heart failure]]. | [[Genetic counseling]] is recommended for couples who want to have children and who have a [[family history]] of [[hereditary hemorrhagic telangiectasia]]. [[Medical]] [[treatment]]s can prevent certain types of [[strokes]] and [[heart failure]]. | ||
==Sources== | ==Sources== | ||
http://www.nlm.nih.gov/medlineplus/ency/article/000837.htm | http://www.nlm.nih.gov/medlineplus/ency/article/000837.htm | ||
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[[Category:Patient information]] | [[Category:Patient information]] | ||
[[Category:Dermatology patient information]] | [[Category:Dermatology patient information]] | ||
[[Category:Overview complete]] | [[Category:Overview complete]] | ||
[[Category:Disease | [[Category:Disease]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Pulmonology]] | |||
[[Category:Pulmonary patient information]] | |||
[[Category:Template complete]] | |||
Latest revision as of 20:32, 9 December 2011
For the WikiDoc page for this topic, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor-in-Chief: Alexandra M. Palmer
Overview
Hereditary hemorrhagic telangiectasia, also called Osler-Weber-Rendu Syndrome, is an inherited disorder of the blood vessels that can cause excessive bleeding.
What are the symptoms of Hereditary hemorrhagic telangiectasia?
- Frequent nosebleeds in children
- GI bleeding, including loss of blood in the stool or dark black stools
- Port-wine stain
- Seizures or unexplained, small strokes (from bleeding into the brain)
- Shortness of breath
- Telangiectases on the tongue, lips, nasal mucosa, face, ears, fingertips, nails, whites of the eyes, and skin (they may bleed easily)
What causes Hereditary hemorrhagic telangiectasia?
Hereditary hemorrhagic telangiectasia 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.
Who is at highest risk?
This is a genetic disorder, so people at risk are those who have a family history of hereditary hemorrhagic telangiectasia.
Diagnosis
An 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 airways
- AVM seen on chest x-ray
- Decreased oxygen levels in the blood
- Heart failure
- Hepatomegaly
- Iron deficiency anemia
Tests include:
- Blood gas tests
- Blood tests
- Echocardiogram
- Endoscopy
Genetic testing may be available for changes (mutations) in the endoglin or ALK1 genes.
When to seek urgent medical care?
Call your health care provider if your child has frequent nose bleeds or other signs of this disease.
Treatment options
Treatments include:
- Surgery to treat bleeding in some areas
- Electrocautery or laser surgery to treat frequent or heavy nose bleeds
- Endovascular embolization to treat abnormal blood vessels in the brain and other parts of the body
Some 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.
Where to find medical care for Hereditary hemorrhagic telangiectasia?
Directions to Hospitals Treating Hereditary hemorrhagic telangiectasia
What to expect (Outlook/Prognosis)?
People with this syndrome can live a completely normal lifespan, depending on the parts of the body where the AVMs are located.
Prevention
Genetic 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.
Sources
http://www.nlm.nih.gov/medlineplus/ency/article/000837.htm Template:WH Template:WS