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Topic: Hereditary hemorrhagic telangiectasia


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In the News (Mon 28 Dec 09)

  
  Hereditary hemorrhagic telangiectasia - Wikipedia, the free encyclopedia
HHT is characterised by telangiectasia (small vascular malformations) on the skin and mucosal linings, epistaxis (nosebleeds), and arteriovenous malformations (AVMs) in various internal organs.
When HHT is suspected, physical examination focuses on inspecting the whole skin for teleangiectasias, auscultation of the lungs and neurological examination.
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in the gene SMAD4
en.wikipedia.org /wiki/Hereditary_hemorrhagic_telangiectasia   (410 words)

  
 Hereditary hemorrhagic telangiectasia - Genetics Home Reference
Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract.
Mutations in the ACVRL1, ENG, and SMAD4 genes cause hereditary hemorrhagic telangiectasia.
ghr.nlm.nih.gov /condition=hereditaryhemorrhagictelangiectasia   (974 words)

  
 Telangiectasia   (Site not responding. Last check: 2007-09-19)
Telangiectasias are dilated superficial blood vessels, which may be seen in Rosacea or certain systemic diseases (ataxia-Telangiectasia, Scleroderma).
Hereditary hemorrhagic telangiectasia is characterized by the appearance of multiple punctate telangiectasias on skin and mucous membranes.
The HHT Foundation was formed in 1990 to aid and support persons with Hereditary Hemorrhagic Telangiectasia (HHT) also known as Osler-Weber-Rendu Syndrome;...
www.telangiectasia.info   (342 words)

  
 Hereditary hemorrhagic telangiectasia   (Site not responding. Last check: 2007-09-19)
Hereditary hemorrhagic telangiectasia is an inherited condition characterized by abnormal blood vessels which are delicate and prone to bleeding.
Hereditary hemorrhagic telangiectasia, an autosomal dominant inherited disorder, occurs in one in 50,000 people.
Hereditary hemorrhagic telangiectasia is an inherited disorder and cannot be prevented.
www.rwjhamilton.org /Atoz/ency/hereditary_hemorrhagic_telangiectasia.asp   (470 words)

  
 HHT.org - What is HHT   (Site not responding. Last check: 2007-09-19)
Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder of the blood vessels which affects about one in 5,000 people.
In 1896 Dr. Rendu first described HHT as a hereditary disorder involving nosebleeds and characteristic red spots that was distinctly different from hemophilia.
HHT is a "dominant" disorder, meaning it only takes one abnormal copy of the gene, from only one parent, to cause the disorder.
www.hht.org /web/what_is_hht/overview.asp   (5593 words)

  
 Hereditary Hemorrhagic Telangiectasia
Hereditary benign telangiectasia is characterized by widespread telangiectases, predominantly on the face, upper limbs, and upper trunk.
Hereditary hemorrhagic telangiectasia (HHT) is inherited in an autosomal dominant manner.
Wallace GMF and Shovlin CL (2002) A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK 1.
www.geneclinics.org /profiles/hht/details.html   (4642 words)

  
 Hereditary Hemorrhagic Telangiectasia of the Liver: Hyperperfusion with Relative Ischemia--Poverty Amidst Plenty -- ...
Macroscopically, the hallmarks of the disease are telangiectasia
Hereditary hemorrhagic telangiectasia: multi–detector row helical CT assessment of hepatic involvement.
Liver transplantation for hepatic arteriovenous malformation in hereditary hemorrhagic telangiectasia.
radiology.rsnajnls.org /cgi/content/full/230/1/25   (1773 words)

  
 Workshop on Hereditary Hemorrhagic Telangiectasia - Office of Rare Diseases   (Site not responding. Last check: 2007-09-19)
A workshop on Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu disease, was organized by the Blood Division of the National Heart, Lung, and Blood Institute (NHLBI) and was held on July 10 and 11, 1997, at the Natcher Conference Center on the National Institutes of Health (NIH) campus.
HHT is an autosomal-dominant disorder characterized by focal abnormalities in vascular architecture that often manifests with bleeding from these vascular lesions.
This necessitates the development of HHT "centers of excellence," where screening and intervention for all of the organs involved can be performed in one location by a team that is familiar with the disorder.
rarediseases.info.nih.gov /html/workshops/workshops/hereditary19970710.html   (4554 words)

  
 Untitled Document   (Site not responding. Last check: 2007-09-19)
Hereditary Hemorrhagic Telangectasia (HHT) is an autosomal dominant disorder of vascular dysplasia.
Analysis of affected families suggests that HHT caused by endoglin gene mutations may be associated with a higher prevalence of pulmonary AVMs.
Telangectasias may be the presenting sign of HHT and identification of these lesions in a characteristic distribution or in association with epistaxis or positive family history dictates further work up for HHT including pulmonary angiography and MRA of the head.
dermatology.wustl.edu /dermsub/caseofmonth/10-98A.HTML   (511 words)

  
 Hemorrhagic Telangiectasia, Hereditary
It is possible that the main title of the report Hemorrhagic Telangiectasia, Hereditary is not the name you expected.
Hereditary hemorrhagic telangiectasia (HHT or Osler-Weber-Rendu syndrome) is a rare inherited disorder characterized by malformations of various blood vessels (vascular dysplasia), usually resulting in excessive bleeding (hemorrhaging).
Hereditary hemorrhagic telangiectasia is inherited as an autosomal dominant trait.
my.webmd.com /hw/parenting_and_pregnancy/nord285.asp   (411 words)

  
 ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Osler-Weber-Rendu syndrome
Hereditary hemorrhagic telangiectasia, also known as HHT or Osler-Weber-Rendu syndrome, is inherited as an autosomal dominant trait.
Affected children develop red or reddish purple telangiectasia (spider-like, macular or papular spots) on the lips and tongue and the nasal mucosa.
Osler-Weber-Rendu disease, or hereditary hemorrhagic telangiectasia, is an inherited disorder.
www.enlmedical.com /article/000837.htm   (354 words)

  
 Clinical Manifestations Produced By HEREDITARY HEMORRHAGIC TELANGIECTASIA Annotations and Selected Bibliographies - ...   (Site not responding. Last check: 2007-09-19)
It is now well documented that the classic hereditary hemorrhagic telangiectasia may be associated with a fistula between the pulmonary artery and pulmonary vein of varying magnitude.
Hereditary hemorrhagic telangiectasia is an uncommon but not rare hemorrhagic disorder Bleeding occurs at points where capillaries show areas of localized dilatations which rupture easily.
It is now well documented that the classic hereditary hemorrhagic telangiectasis may be associated with a fistula between the pulmonary artery and pulmonary vein of varying magnitude.
www.jeghers.com /annts/telangiectasia.html   (4161 words)

  
 University of Miami School of Medicine - Glossary - Hereditary hemorrhagic telangiectasia
HHT is inherited as an autosomal dominant trait.
HHT can be caused by mutation in one of two different genes: the endoglin gene (ENG) on chromosome 9 or the activin receptor gene (ACTRL1) on chromosome 12.
HHT is also known as Osler-Rendu-Weber and Rendu- Osler-Weber disease or syndrome.
www.med.miami.edu /glossary/art.asp?articlekey=6678   (264 words)

  
 Energy Citations Database (ECD) - Energy and Energy-Related Bibliographic Citations   (Site not responding. Last check: 2007-09-19)
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant generalized vascular dysplasia characterized by recurrent hemorrhage.
Our initial linkage studies found an HHT gene to be localized to 9q3 in two large kindreds.
Although six of the seven families clearly meet the clinical criteria for HHT diagnosis, a significant absence of PAVMs is seen in all 9q3-unlinked families.
www.osti.gov /energycitations/product.biblio.jsp?osti_id=134093   (341 words)

  
 Hereditary hemorrhagic telangiectasia   (Site not responding. Last check: 2007-09-19)
In hereditary hemorrhagic telangiectasia these spots occur because the blood vessel is fragile and bleeds easily.
Other small telangiectasias may occur in the digestive tract.
The physician will look for red spots on all areas of the skin, but especially on the upper half of the body, and in the mouth and nose and under the tongue.
rwjhamilton.org /Atoz/ency/hereditary_hemorrhagic_telangiectasia.asp   (470 words)

  
 eMedicine - Osler-Weber-Rendu Syndrome : Article by Geromanta Baleviciene, MD   (Site not responding. Last check: 2007-09-19)
Background: Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), is a rare genetically determined disorder that affects blood vessels throughout the body and results in a tendency for bleeding.
HHT is an autosomal dominant disorder characterized by vascular dysplasia and hemorrhage.
HHT is a disorder that is inherited in an autosomal dominant fashion, although 20% of patients are unaware of a positive family history, partly because the lesions may be minimal and because 10% of patients have no episodes of bleeding.
www.emedicine.com /derm/topic782.htm   (2586 words)

  
 Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia -- Maher et al. 32 (4): 877 -- ...
of intracranial hemorrhage from a vascular malformation was
Linkage of hereditary haemorrhagic telangiectasia to chromosome k9q34 and evidence for locus heterogeneity.
Frequency of intracranial hemorrhage as a presenting symptom and subtype analysis: a population-based study of intracranial vascular malformations in Olmsted County, Minnesota.
stroke.ahajournals.org /cgi/content/full/32/4/877   (3065 words)

  
 Spontaneous Regression of Cerebral Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia -- Cloft 23 (6): ...
Spontaneous Regression of Cerebral Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia
MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations.
Hereditary hemorrhagic telangiectasia: a model for blood vessel growth and enlargement.
www.ajnr.org /cgi/content/full/23/6/1049   (745 words)

  
 Hereditary Hemorrhagic Telangiectasia / Family Village Library
HHT Foundation International is a worldwide, non-profit organization whose purpose is to support patients and families and educate medical professionals.
HHT is a genetic disorder, which affects blood vessels.
This Community is dedicated to all who suffer with Hereditary Hemorrhagic Telangiectasia, a genetic disorder that manifests itself in so many ways.
www.familyvillage.wisc.edu /lib_ht.htm   (185 words)

  
 Hereditary Hemorrhagic Telangiectasia (HHT) Syndrome   (Site not responding. Last check: 2007-09-19)
Hereditary Hemorrhagic Telangiectasia (HHT), or Osler-Weber-Rendu Syndrome, is not a disorder of blood clotting or missing clotting factors within the blood (like hemophilia), but instead is a disorder of the small and medium sized arteries of the body.
HHT primarily affects 4 organ systems; the lungs, brain, nose and gastrointestinal (stomach, intestines or bowel) system.
Telangiectasias are not prominent during childhood, but increase in size and number during adult life.
www.med.umich.edu /1libr/aha/umhht.htm   (759 words)

  
 Hereditary Hemorrhagic Telangiectasia : A Model for Blood Vessel Growth and Enlargement -- Jacobson 156 (3): 737 -- ...
The earliest alteration in the vasculature of HHT is a focally
the elaboration of the arteriovenous malformations in HHT.
HHT lesions is the same as in normal vascular endothelial cells.
ajp.amjpathol.org /cgi/content/full/156/3/737   (3958 words)

  
 Hereditary Hemorrhagic Telangiectasia: Multi-Detector Row Helical CT Assessment of Hepatic Involvement -- Ianora et al. ...
Hereditary Hemorrhagic Telangiectasia: Multi-Detector Row Helical CT Assessment of Hepatic Involvement -- Ianora et al.
Clinical outcome of transfemoral embolization in patients with arteriovenous malformation of the liver in hereditary haemorrhagic telangiectasia (Weber-Rendu-Osler disease).
Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement.
radiology.rsnajnls.org /cgi/content/full/230/1/250   (5133 words)

  
 THE MERCK MANUAL--SECOND HOME EDITION, Hereditary Hemorrhagic Telangiectasia in Ch. 173, Bleeding and Clotting Disorders
Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) is a hereditary disorder in which blood vessels are malformed, making them fragile and prone to bleeding.
Blood vessels under the skin may break and bleed, causing small, red-to-violet discolorations, especially on the face, lips, lining of the mouth and nose, and tips of the fingers and toes.
Bleeding almost always recurs, resulting in iron deficiency anemia; consequently, people with hereditary hemorrhagic telangiectasia need to take iron supplements.
www.merck.com /mmhe/sec14/ch173/ch173b.html?alt=pf   (158 words)

  
 DermAtlas: Online Dermatology Image Library dermatology image,hereditary hemorrhagic telangiectasia,Osler-Rendu-Weber ...   (Site not responding. Last check: 2007-09-19)
Genetic studies have identified mutations at loci on chromosomes 9 and 12 which encode for endoglin and activin-like kinase 1 which are expressed on endothelial cells.
This 70 year old man began to develop telangiectasias on his ears, face, lips, tongue, and oral and nasal mucosae 25 years earlier.
Yellow pulsed dye laser therapy was scheduled for treatment of the cutaneous vascular telangiectasias.
dermatlas.med.jhmi.edu /derm/result.cfm?Diagnosis=1354756010   (1154 words)

  
 Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia -- Maher et al. 32 (4): 877 -- ...
Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia -- Maher et al.
patients with HHT for asymptomatic cerebral vascular malformations.
A Pulmonary Right-to-Left Shunt in Patients With Hereditary Hemorrhagic Telangiectasia Is Associated With an Increased Prevalence of Migraine
stroke.ahajournals.org /cgi/content/abstract/32/4/877   (538 words)

  
 The Hereditary Hemorrhagic Telangiectasia Self Help Group
The Telangiectasia Self Help Group was founded in 1985 to maintain a register of sufferers and to put affected families in touch with one another.
A newsletter is sent to all members on an occasional basis informing them of the developments in the treatments of this disease.
This site is dedicated to the individuals and medical professionals who encounter the daily challenges of managing Hereditary Hemorrhagic Telangiectasia.
www.telangiectasia.co.uk   (253 words)

  
 JRM Mar1996: Endometrial Ablation for Severe Menorrhagia in a Patient with Hereditary Hemorrhagic . . .   (Site not responding. Last check: 2007-09-19)
Authors: David L. Berry, M.D., and Frank D. DeLeon, M.D. Background: Hereditary hemorrhagic telangiectasia is a rare, inherited disease characterized by abnormal visceral and superficial blood vessel anastomoses.
These telangiectasias predispose the patient to a lifelong history of recurrent bleeding from the nasal and gastrointestinal mucosa.
Case: Menorrhagia was diagnosed in a 42-year-old multipara with known history of hereditary hemorrhagic telangiectasia.
www.jreprodmed.com /abs/JRM37.htm   (211 words)

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