Hereditary hemorrhagic telangiectasia

Symptoms

What are the main symptoms of hereditary hemorrhagic telangiectasia?

Hereditary hemorrhagic telangiectasia (HHT) affects people very differently, even people in the same family. Some people go undiagnosed well into adulthood because they only have mild symptoms. Other people have severe symptoms or symptoms that develop in infancy.

People with HHT have problems with very small blood vessels called capillaries. Usually, the arteries (the vessels that carry away from the heart) are connected to the veins (the vessels that carry blood to the heart) by capillaries. In HHT, the capillaries may not form properly and the arteries may be connected directly to the veins. These abnormal connections are called arteriovenous malformations (AVMs) when they are large or telangiectasia (small-sized AVMs), when they occur near the surface of the skin or mucous membranes. The site where these abnormal connections occur are fragile and can rupture easily, causing bleeding.

Chronic nosebleeds are a common symptom of HHT. These nosebleeds often occur without a cause (spontaneously) because of telangiectasia on the lining inside the nose. For some people, nosebleeds are a daily occurrence.

Telangiectasia appear as small reddish lesions and can also form on lips, tongue, face, chest, fingers, or mucous membrane that lines the inside of the cheeks. They usually increase in number as a person ages. Nosebleeds vary in severity during a person's life, but tend to worsen with age. For some people, nosebleeds are a minor issue, but for others it can be a debilitating or even life-threatening complication. Bleeding episodes can potentially lead to anemia and iron deficiency. Anemia is a condition where there is a lack of enough red blood cells to deliver oxygen throughout the body. Anemia can cause fatigue, shortness of breath, pale skin, lightheadedness, cold hands and feet, and irregular heartbeats. Iron deficiency occurs when the body does not have enough iron, which is needed to produce hemoglobin. Hemoglobin is the red protein in blood that carries oxygen.

Many people with HHT will only have nosebleeds, telangiectasia on the skin and mucous membranes, and anemia. However, some people will have additional problems.

Telangiectasia can also form in the gastrointestinal tract. This can lead to gastrointestinal bleeding in some people. As many as 25% people with HHT experience bleeding from the gastrointestinal tract, although most people don't develop this complication until after the age of 50. Bleeding from the GI tract can lead to iron-deficiency anemia.

Arteriovenous malformations (AVMs) most often occur in the lungs, liver or brain. An AVM in the lungs may not cause any symptoms. Some people may have trouble breathing, fatigue, coughing up of blood, and the skin may have a bluish tint because of lack of oxygen in the blood. Some people may have blood build up in the lungs. A major risk of a AVM in the lungs is the formation of an embolism. An embolism is a blockage in the a blood vessel. An embolism can pass through an AVM in the lungs bypassing the lungs filtering system. This can lead to severe problems including a mini-strokes (transient ischemic attacks) or a stroke by blocking the blood flow to the brain. Bacteria can also pass through a lung AVM and eventually reach the brain causing brain abscesses.

Headaches and migraines are common symptoms of HHT. They occur with greater frequency (almost double the risk) in people who have a pulmonary AVM. There is also evidence that migraines improve after treatment for a pulmonary AVM. The arteries of the lungs may have high blood pressure, a condition called pulmonary hypertension. This occurs far less often than pulmonary AVMs. This can cause the heart to work extra hard to pump blood and increases the risk of heart failure.

AVMs in the liver often do not cause symptoms. Some people have high blood pressure in the main artery of the liver or disease of the biliary ducts, which carry bile from the liver to the pancreas and then the small intestines. Biliary disease can cause itching or jaundice (yellowing of the skin, eyes and mucous membranes). AVMs in the liver can potentially lead to liver or heart failure. Heart failure occurs because the heart is forced to work extra hard to make up for the increased blood flow between the main artery and vein of the liver.

AVMs can occur in the brain. They can cause dizziness, headaches, and seizures. The major risk of an AVM in the brain is bleeding in the brain, which can be life-threatening. An AVM in the spinal spine is a rare occurrence, but can potentially cause paralysis.

References
  • Shovlin C. Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). UpToDate, Inc. website Accessed February 22, 2017. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-hereditary-hemorrhagic-telangiectasia-osler-weber-rendu-syndrome
  • Hereditary hemorrhagic telangiectasia. The National Organization for Rare Disorders website. Accessed February 23, 2017. https://rarediseases.org/rare-diseases/hereditary-hemorrhagic-telangiectasia/
  • McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews website. Accessed February 23, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1351/
  • Sacco KM, Barkley TW Jr. Hereditary hemorrhagic telangiectasia: a primer for critical care nurses. Crit Care Nurse. 2016 Jun;36(3):36-48. https://www.ncbi.nlm.nih.gov/pubmed/27252100
  • Olitsky SE. Hereditary hemorrhagic telangiectasia: diagnosis and management. Am Fam Physician. 2010;82(7):785-90. https://www.ncbi.nlm.nih.gov/pubmed/20879701
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More Symptoms Content

Are the lungs affected in hereditary hemorrhagic telangiectasia?

Are there different forms of hereditary hemorrhagic telangiectasia?

If you have hereditary hemorrhagic telangiectasia, will you always have symptoms?

If I have hereditary hemorrhagic telangiectasia, will I also have juvenile polyposis syndrome?

Is the heart affected by hereditary hemorrhagic telangiectasia?

Is the liver affected by hereditary hemorrhagic telangiectasia?

Are the lungs affected in hereditary hemorrhagic telangiectasia?

People with hereditary hemorrhagic telangiectasia (HHT) have problems with very small blood vessels called capillaries. These blood vessels connect arteries with veins. In HHT, the capillaries may not form properly and the arteries may be connected directly to the veins. These abnormal connections are called arteriovenous malformations (large-sized AVMs) or telangiectasia (small-sized AVMs) when they occur near the surface of the skin or mucous membranes. The sites where these connections occur are fragile and can rupture easily, causing bleeding.

Some people with HHT will have an AVM in the lungs. For many people, they are "silent", meaning that they don't cause symptoms. However, an AVM in the lungs is a potentially very serious complication. There is a risk of serious neurological complications including stroke from the passage of blood clots through the AVM (which bypasses the filtering capabilities of the lungs). Bacteria can also pass through and eventually reach the brain causing brain abscesses.

An AVM in the lungs can also cause difficulty breathing, fatigue, coughing up of blood, headaches, and increased levels of red blood cells in the blood, a condition called polycythemia. AVMs can also rupture causing bleeding in the lungs. High blood pressure of the main arteries of lungs, called pulmonary hypertension, can also occur. This occurs far less often than pulmonary AVMs. This can cause the heart to work extra hard to pump blood and increase the risk of heart failure.

The management of AVMs in the lungs should be handled by physicians with expertise in treating these conditions and who are experienced in treating HHT.

References
  • Shovlin C. Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). UpToDate, Inc. website Accessed February 22, 2017. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-hereditary-hemorrhagic-telangiectasia-osler-weber-rendu-syndrome
  • Hereditary hemorrhagic telangiectasia. The National Organization for Rare Disorders website. Accessed February 23, 2017. https://rarediseases.org/rare-diseases/hereditary-hemorrhagic-telangiectasia/
  • McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews website. Accessed February 23, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1351/
  • Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009 Jul;17(7):860-71.
  • McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 2011 Jul;13(7):607-16.
Are there different forms of hereditary hemorrhagic telangiectasia?

There are several forms of hereditary hemorrhagic telangiectasia (HHT). They are classified based on the underlying genetic defect, which means the specific gene that is affected. Four genes, called ACVRL1, ENG, GDF2, or SMAD4, are known to cause HHT when altered. Researchers believe there is at least one more gene that is associated with HHT, but they have been unable to identify it yet.

There are differences among these forms of HHT. People with a change in their ENG gene are more likely to develop arteriovenous malformations (AVMs) in the lungs or brain, while people with a change in their ACVRL1 gene are more likely to develop AVMs in the liver and have liver-associated high blood pressure. People with a change in the SMAD4 gene may develop a condition called juvenile polyposis. People with juvenile polyposis develop small, non-cancerous growths called polyps in the gastrointestinal tract. Polyps can cause bleeding, abdominal pain and diarrhea.

References
  • Shovlin C. Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). UpToDate, Inc. website Accessed February 22, 2017. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-hereditary-hemorrhagic-telangiectasia-osler-weber-rendu-syndrome
  • McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews website. Accessed February 23, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1351/
If you have hereditary hemorrhagic telangiectasia, will you always have symptoms?

Most, but not all, people with hereditary hemorrhagic telangiectasia will develop symptoms by the age of 40. For some people, symptoms may be mild, while for others they can be severe. HHT is a disorder of abnormal blood vessel formation. They may have telangiectasia or arteriovenous malformations. In unaffected people, very tiny blood vessels called capillaries connect arteries (blood vessels that carry blood away from the heart) to veins (blood vessels that carry blood to the heart). Without normal capillaries, arteries and veins are connected directly. These abnormal connections are called arteriovenous malformations (AVMs) or, when they occur near the surface of the skin or mucous membranes, telangiectasia (small-sized AVMs). These abnormal connections are fragile and often rupture causing bleeding. Telangiectasia appear as small reddish lesions and form inside the nasal passages, causing nosebleeds when they rupture. They also form on lips, tongue, face, chest, fingers, or mucous membrane that lines the inside of the cheeks. They usually increase in number as a person ages. Arteriovenous malformations (AVMs) most often occur in internal organs, specifically the lungs, liver or brain. Just because a person with HHT has an AVM does not mean that any noticeable symptoms will occur. Not all AVMs will cause symptoms.

There are four genes known to cause HHT. Doctors know that at least one more gene can cause the disorder when that gene is altered. There may differences in symptoms, which depend on which gene is altered. For example, a change in the SMAD4 gene can cause symptoms of HHT, but also a condition called juvenile polyposis. People with HHT because of alterations in other genes will not develop this condition. HHT is a complex disorder and how it will affect one person can be very different from how it affects another person.

References
  • Shovlin C. Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). UpToDate, Inc. website Accessed February 22, 2017. http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-hereditary-hemorrhagic-telangiectasia-osler-weber-rendu-syndrome
  • McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews website. Accessed February 23, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1351/
If I have hereditary hemorrhagic telangiectasia, will I also have juvenile polyposis syndrome?

Hereditary hemorrhagic telangiectasia (HHT) is caused by a change in one of at least five different genes. People who have HHT because of a change in the SMAD4 gene can also develop a condition called juvenile polyposis syndrome. People who have HHT because a change in another gene will not develop this condition.

Juvenile polyposis syndrome is a condition where multiple small growths called polyps develop in the gastrointestinal tract. Some people may only have a few polyps during their lives, while others may have a few hundred. These growths are not cancerous, but they can cause gastrointestinal bleeding, abdominal pain, and diarrhea. They can cause or contribute to anemia in people with HHT. People with juvenile polyposis syndrome will be seen by a specialist in gastrointestinal disorders, called a gastroenterologist, and doctors will usually follow standard surveillance and treatment guidelines for this condition.

References
  • McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews website. Accessed February 23, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1351/
  • Juvenile Polyposis Syndrome. Genetics Home Reference website. Accessed March 5, 2017. https://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome
  • Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009 Jul;17(7):860-71.
Is the heart affected by hereditary hemorrhagic telangiectasia?

Hereditary hemorrhagic telangiectasia (HHT) can affect the heart. HHT doesn't damage the heart directly, but because of arteriovenous malformations in the liver and because of complications associated with lungs, heart failure can occur. Heart failure occurs because the heart is forced to work extra hard to compensate for problems caused by HHT.

People with HHT may have telangiectasia or arteriovenous malformations. In unaffected people, very tiny blood vessels called capillaries connect arteries (blood vessels that carry blood away from the heart) to veins (blood vessels that carry blood to the heart). Without normal capillaries, arteries and veins are connected directly. These abnormal connections are called arteriovenous malformations (AVMs) or, when they occur near the surface of the skin or mucous membranes, telangiectasia (small-sized AVMs). These abnormal connections are fragile and often rupture causing bleeding.

In some people, the main artery in the liver (hepatic artery) is directly connected to the main vein (hepatic vein). This leads to excessive blood flow through the liver, and can cause heart failure because the heart must work so hard to compensate.

References
  • Hereditary hemorrhagic telangiectasia. The National Organization for Rare Disorders website. Accessed February 23, 2017. https://rarediseases.org/rare-diseases/hereditary-hemorrhagic-telangiectasia/
  • McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews website. Accessed February 23, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1351/
Is the liver affected by hereditary hemorrhagic telangiectasia?

People with hereditary hemorrhagic telangiectasia (HHT) may have telangiectasia or arteriovenous malformations. In unaffected people, very tiny blood vessels called capillaries connect arteries (blood vessels that carry blood away from the heart) to veins (blood vessels that carry blood to the heart). Without normal capillaries, arteries and veins are connected directly. These abnormal connections are called arteriovenous malformations (AVMs) or, when they occur near the surface of the skin or mucous membranes, telangiectasia (small-sized AVMs). These abnormal connections are fragile and often rupture causing bleeding.

In some people, an AVM will form in the liver. Usually, AVMs in the liver do not cause symptoms. Some people have high blood pressure in the main artery of the liver or disease of the biliary ducts, which carry bile from the liver to the pancreas and then the small intestines. Biliary disease can cause itching or jaundice (yellowing of the skin, eyes and mucous membranes). AVMs in the liver can potentially lead to liver or heart failure. Heart failure occurs because the heart is forced to work extra hard to make up for the increased blood flow between the main artery and vein of the liver, which is caused by the abnormal AVM connection.

References
  • McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews website. Accessed February 23, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1351/
  • Hereditary hemorrhagic telangiectasia. The National Organization for Rare Disorders website. Accessed February 23, 2017. https://rarediseases.org/rare-diseases/hereditary-hemorrhagic-telangiectasia/

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