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Disease Profile
Hereditary hemorrhagic telangiectasia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
All ages
ICD-10
I78.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
HHT; Osler Weber Rendu syndrome; ORW disease;
Categories
Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;
Summary
Hereditary hemorrhagic telangiectasia (HHT) is an
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Epistaxis |
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] |
0000421 |
Telangiectasia of the skin | 0100585 | |
30%-79% of people have these symptoms | ||
Cavernous hemangioma |
Collection of dilated blood vessels that forms mass
|
0001048 |
Cholecystitis |
Gallbladder inflammation
|
0001082 |
Microcytic |
0001935 | |
Migraine |
Intermittent migraine headaches
Migraine headaches
Migraine headache
[ more ] |
0002076 |
Portal |
0001409 | |
Spontaneous hematomas | 0007420 | |
Visceral angiomatosis | 0100761 | |
5%-29% of people have these symptoms | ||
Amblyopia |
Lazy eye
Wandering eye
[ more ] |
0000646 |
Cerebral hemorrhage |
Bleeding in brain
|
0001342 |
Cholelithiasis |
Gallstones
|
0001081 |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Conjunctival telangiectasia |
Small dilated blood vessels near membrane covering front of eye and eyelids
|
0000524 |
Esophageal varix |
Enlarged vein in esophagus
|
0002040 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Hematuria |
Blood in urine
|
0000790 |
Hemoptysis |
Coughing up blood
|
0002105 |
Hepatic failure |
Liver failure
|
0001399 |
Intestinal polyposis | 0200008 | |
Nephrolithiasis |
Kidney stones
|
0000787 |
Peripheral arteriovenous fistula | 0100784 | |
Pulmonary arterial hypertension |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
Retinal telangiectasia | 0007763 | |
0001250 | ||
Subarachnoid hemorrhage | 0002138 | |
Transient ischemic attack |
Mini stroke
|
0002326 |
Venous thrombosis |
Blood clot in vein
|
0004936 |
1%-4% of people have these symptoms | ||
Cerebral arteriovenous malformation | 0002408 | |
Hepatic arteriovenous malformation | 0006574 | |
Pulmonary arteriovenous malformation | 0006548 | |
Reduced FEV1/FVC ratio | 0030877 | |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Spontaneous abortion | 0005268 | |
Spontaneous, recurrent epistaxis |
Recurring nosebleed
Spontaneous, recurrent nosebleed
[ more ] |
0004406 |
Percent of people who have these symptoms is not available through HPO | ||
Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
Arteriovenous fistulas of celiac and mesenteric vessels | 0002642 | |
0000006 | ||
Brain abscess | 0030049 | |
Chest pain | 0100749 | |
Clubbing |
Clubbing of fingers and toes
|
0001217 |
Cyanosis |
Blue discoloration of the skin
|
0000961 |
Dilatation of celiac artery | 0100858 | |
Dilatation of mesenteric artery | 0011934 | |
Dyspnea |
Trouble breathing
|
0002094 |
Exacerbated by pregnancy | 0032542 | |
Exertional dyspnea | 0002875 | |
Fingerpad telangiectases |
Small dilated blood vessels in fingerpads
|
0006107 |
Gastrointestinal angiodysplasia | 0000471 | |
Gastrointestinal arteriovenous malformation | 0002629 | |
Gastrointestinal telangiectasia |
Small, enlarged blood vessels near skin
|
0002604 |
Hematemesis |
Vomitting blood
|
0002248 |
Hematochezia |
Rectal bleeding
|
0002573 |
Hemothorax | 0012151 | |
High-output congestive heart failure | 0001722 | |
Hypoxemia |
Low blood oxygen level
|
0012418 |
Ischemic stroke | 0002140 | |
Lip telangiectasia | 0000214 | |
Melena | 0002249 | |
Nail bed telangiectasia | 0001232 | |
Nasal mucosa telangiectasia |
Spider veins of mucosa of nose
Spider veins of mucous membrane of nose
Spider veins of nasal mucous membrane
[ more ] |
0000434 |
Palate telangiectasia |
Telangiectasia of the roof of the mouth
|
0002707 |
Polycythemia |
Increased red blood cells
|
0001901 |
Pulmonary hemorrhage | 0040223 | |
Right-to-left shunt | 0001694 | |
Spinal arteriovenous malformation | 0002390 | |
Tongue telangiectasia |
DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
TreatmentAlthough current treatment cannot stop telangiectasias or arteriovenous malformations (AVMs) from forming, many of the symptoms and complications associated with hereditary hemorrhagic telangiectasia (HHT) can be treated or prevented.[4] Management of HHT includes checking for new or worsening AVMs and the treatment of complications such as nosebleeds, bleeding from the intestines or stomach, and
B leeding in the intestine or stomach is usually only treated if oral iron supplements cannot keep iron levels high enough to avoid anemia. Treatment may include surgical removal of AVMs or laser therapy to destroy and close the AVMs. If severe bleeding with uncontrolled anemia develops, treatment of AVMs in the stomach or intestine may include medication or hormone therapy, but the effectiveness and safety of these treatments has not been established. In addition to oral iron supplements, anemia may be treated by intravenous (IV) iron therapy or, in more severe cases,
AVMs in the brain (cerebral AVMs) greater than 1.0 cm in diameter may be surgically removed. Alternative treatment includes inserting a small inflated balloon or glue-like substance to stop the blood flow through the artery involved in the AVM (embolotherapy) and/or using a narrow, focused beam of radiation to destroy the AVM (stereotactic radiosurgery).[2][4] AVMs in the liver (hepatic AVMs) are currently treated only if a person shows signs of heart failure or significant health problems related to the liver not working properly. Treatment might include standard heart failure medications, liver transplantation, or medications like bevacizumab.[4] In addition, guidelines for people with HHT recommend annual evaluations for anemia and neurologic conditions and re-evaluation for pulmonary AVMs every one to two years during childhood and every five years thereafter. Blood tests to check for anemia may be recommended more often depending on the frequency and severity of nose bleeds or if an intestinal or stomach AVM is bleeding. Women with HHT considering pregnancy are screened and treated for pulmonary AVMs; if pulmonary AVMs are discovered during pregnancy, they are treated during the second trimester.[2] Management Guidelines
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Organizations Providing General Support
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
Selected Full-Text Journal Articles
References
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