What is hereditary hemorrhagic telangiectasia?

HHT is a disorder in which some blood vessels do not develop properly. A person with HHT may form blood vessels without the capillaries (tiny blood vessels that pass blood from arteries to veins) that are usually present between arteries and veins.

Is HHT life threatening?

HHT can be fatal if the AVM is in the patient’s brain, lungs or GI tract (stomach and intestines). AVMs in the GI tract do not cause pain or discomfort. Symptoms of GI bleeding are black or bloody stools and/or anemia. The anemia (low blood count) can then cause fatigue, shortness of breath, chest pain or dizziness.

What is the cause of hereditary hemorrhagic telangiectasia?

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in the SMAD4 gene. All these genes provide instructions for making proteins that are found in the lining of the blood vessels. These proteins interact with growth factors that control blood vessel development.

What is the life expectancy of someone with HHT?

Our data demonstrate that patients with HHT have a poorer survival compared with controls. Median age at death was 77 years in cases with HHT compared with 80 years in controls, a decrease of 3 years.

Is HHT an autoimmune disease?

HHT syndrome has been described in association with autoimmune disorders, such as Hashimoto thyroiditis, lupus erythematosus, vitiligo, anti-phospholipidic syndrome and pernicious anaemia.

What are signs of HHT?

Signs and symptoms of HHT include:

  • Nosebleeds, sometimes on a daily basis and often starting in childhood.
  • Lacy red vessels or tiny red spots, particularly on the lips, face, fingertips, tongue and inside surfaces of the mouth.
  • Iron deficiency anemia.
  • Shortness of breath.
  • Headaches.
  • Seizures.
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Can telangiectasia go away?

There is no cure for telangiectasia, but the condition is treatable. Doctors will often devise a treatment plan based on the results of diagnostic tests. For example, if acne or rosacea is the underlying cause, the doctor may prescribe an oral or topical antibiotic.

What foods to avoid when you have HHT?

Avoid certain foods. In some people, HHT nosebleeds are triggered when they consume blueberries, red wine, dark chocolate or spicy foods. You might want to keep a food diary to see if there’s any connection between what you eat and the severity of your nosebleeds.

When do HHT symptoms start?

In many patients, the first apparent symptom of HHT is nosebleeds (epistaxis). While recurrent nosebleeds may develop as early as infancy they most often begin around puberty. Recurrent nosebleeds occur in approximately 90% of affected individuals.

Can you have HHT if your parents don t?

HHT can affect men, women, and children from all racial and ethnic groups. It’s genetic, so it runs in families. The disorder is rare, but it’s also underdiagnosed, meaning many people have it without knowing.

Is HHT a disability?

The Social Security Administration will consider HHT a disability if the individual has a hemorrhage requiring transfusion at least three times during the 5 months prior to adjudication.

Can HHT cause migraines?

Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder characterized by epistaxis, telangiectasia and visceral vascular manifestations. It is associated with migraine with aura due to pulmonary arteriovenous malformations (pAVMs).

Can telangiectasia cause death?

Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disease associated with epistaxis, arteriovenous malformations and telangiectasias. Disease complications may result in premature death.

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Can you give blood with HHT?

Can a person with HHT donate blood? Yes, as long as their hemoglobin, or hematocrit, is at an acceptable level.

Can you cure HHT?

Most major manifestations of HHT, including AVMs and ruptured telangiectases, are very treatable. They cannot yet be prevented and HHT cannot yet be cured, but the options for treatment allow HHT patients to live normal lives. It can take some time to find the right treatment for you, but don’t give up!

What causes telangiectasia?

It’s believed that most cases of telangiectasia are caused by chronic exposure to the sun or extreme temperatures. This is because they usually appear on the body where skin is often exposed to sunlight and air.

Who treats hereditary hemorrhagic telangiectasia?

Otolaryngologists (physicians who treat disorders of the ear, nose and throat) commonly treat patients with HHT and nosebleeds. In particular, rhinologists (specialists in diseases of the nose, sinuses, and surrounding structures) frequently see patients with hereditary hemorrhagic telangiectasia and nosebleeds.

What is Osler Weber syndrome?

Osler-Weber-Rendu disease (OWRD) is a rare autosomal dominant disorder that affects blood vessels throughout the body (causing vascular dysplasia) and results in a tendency for bleeding. (The condition is also known as hereditary hemorrhagic telangiectasia [HHT]; the two terms are used interchangeably in this article.)

What is ataxia telangiectasia?

Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic problems that lead to difficulty walking and an increased risk of developing various types of cancer. Signs of A-T often develop in childhood.

What does telangiectasia mean in medicine?

Telangiectasias are small, widened blood vessels on the skin. They are usually harmless, but may be associated with several diseases.

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Can telangiectasia be normal?

Telangiectasia is a common condition that affects many otherwise healthy people. But can also be a sign of a more serious disease.

What telangiectasia looks like?

Telangiectasias are red, blue, or purple linear marks measuring less than 13 mm in width and several millimeters to centimeters in length, and they can disappear temporarily if you press on them with your finger.

What medications can cause telangiectasia?

Cases of CCB-related photodistributed telangiectasia published in the literature are due to drugs of the dihydropyridine group (amlodipine, nifedipine, felodipine). Among these, amlodipine is the most common culprit.

Can strawberries cause nosebleeds?

5 Certain foods rich in salicylate can cause nosebleed in persons prone to them. Fruits such as berries and dry fruits are rich in salicylate.