Description

Hereditary hemorrhagic telangiectasia (tuh-lan-jee-uk-TAY-zhuh) is a condition that is transmitted through families, called legacy. Cause atypical links between the arteries and veins called arteriovenous malformations (Avms). The most common sites of Avms are affected are the skin, the nose, the digestive system, the lungs, the brain and the liver.

Avms can be enlarged with time. They can bleed or burst. This can result in serious complications, including death.

The bleeding that occur for no known reason, are the most common symptom. Nosebleeds can occur every day. Continuous bleeding of the nose and intestinal tract can result in a severe iron-deficiency anemia and poor quality of life.

Also called Osler-Weber-Rendu disease and of the HHT, hereditary hemorrhagic telangiectasia passed on from parents to children. The bad thing that can vary greatly from one person to another, even within the same family.

If you have HHT and have children, you may want to have checked for the condition. HHT may affect them, even if they have no symptoms.

Symptoms

The symptoms of HHT include:

  • Nosebleeds. These may occur every day. It often starts in childhood.
  • Lace red cups or small red spots, mainly on the lips, the face, the fingers, the tongue and the inside of the mouth. These are called telangiectasias.
  • Iron-deficiency Anemia due to bleeding from the nose or of the intestinal tract.
  • Shortness of breath.
  • Headaches.
  • Seizures.
  • Pus-filled swelling in the brain, called brain abscess, and cerebrovascular accidents.
  • The infection in the bone, called osteomyelitis.

Causes

HHT is a condition of changes in genes, called genetic, that you get from your parents. It is an autosomal dominant disorder. That means if one of your parents has the HHT, you have a 50% chance of getting it. If you have HHT, each of their children has a 50% chance of getting you.

Risk factors

The main risk factor for hereditary hemorrhagic telangiectasia is to have a parent with the disease.

Diagnosis

Your health care professional can diagnose HHT based on a physical exam, imaging test results and a family history. But some symptoms may not occur in children or young adults. To have genetic testing for HHT, can confirm the diagnosis.

Imaging tests

In HHT, atypical links called arteriovenous malformations, also called Avm, to pass between the arteries and the veins. HHT arteriovenous malformations may be present in the internal organs such as the lungs, brain, and liver. One or more of the following imaging tests can help you find the Avm:

  • Ultrasound. This test can show whether the Mav affect the liver.
  • The magnetic resonance imaging. This exploration can be checked by the audiovisual media in the brain, as well as the liver and other organs in the abdomen.
  • Echocardiogram bubble study. During this test, echocardiogram, a professional of the health puts a line in a vein, called an IV. A small amount of air bubbles put in the IV, it allows the health professional to find and evaluate pulmonary arteriovenous malformations.
  • Computed tomography. These can confirm the Avms in the lungs, liver, and other organs in the abdomen.

Treatment

If you or your child has HHT, if you can, seek treatment in an HHT Center of Excellence. HHT is a rare condition that is best managed in the centers that deal with all aspects of this disease in all ages. So it can be difficult to find a specialist for your treatment.

In the united States, Cure HHT names of HHT Centers of Excellence in order to be able to diagnose and treat all aspects of the condition. The Mayo Clinic is an HHT Center of Excellence and cares for many people and their families with a diagnosis of HHT.

Drugs

Medications that help to stop bleeding associated with HHT can be divided into three large groups:

  • Hormone-related drugs. The medicines that have estrogen may be useful. But the side effects are common with the high doses needed. Anti-estrogens such as tamoxifen (Soltamox) and raloxifene (Evista) you can also control the HHT.
  • Drugs that block the growth of the blood vessels. A treatment for HHT is bevacizumab (Avastin). Avastin is passed through a tube into a vein, called intravenous. Other medications to the health professionals used to block the growth of the blood vessels include pazopanib (Votrient), pomalidomide (Pomalyst) and tacrolimus (Prograf, Protopic, others).
  • Medications that slow dissolve the clot. Tranexamic acid (Cyklokapron, Lysteda) can help you to stop the severe bleeding in emergency situations. If taken regularly, can help to prevent bleeding.

If you get iron-deficiency anemia, you can get a replacement of iron through a vein. This most often works better than take iron pills.

Surgical and other procedures for the nose

Severe nosebleeds are one of the most common signs of HHT. These are sometimes happen on a daily basis. It can cause a lot of loss of blood to become anemic. You might need to receive blood, which is called a transfusion, and iron through a vein in the arm.

Procedures to reduce the number of nose bleeds and reduce how bad they may include:

  • The ablation. This procedure uses laser energy or other devices to seal the blood vessels that cause the bleeding of the nose. But this most often is short-lived. Bleeding from the nose come back in time.
  • Skin graft. The skin of other part of the body can be put inside the nose. The skin most often comes from the thigh. Health professionals rarely do this procedure because of how well the newer medications work.
  • The surgical closure of the nostrils. If nothing else works, joining the flaps of skin on the nose to close the nostrils is often a success. This is done only when other treatments have failed. Health professionals rarely do this procedure because of how well the newer medications work.

Surgical and other procedures for the lungs, the brain and the liver

HHT most often affects the lungs, brain, and liver. Procedures for the treatment of Avms in these bodies may include:

  • The embolization. In this procedure, a health care professional wire, a long thin tube through the blood vessels of the AVM. Then, the healthcare provider puts in a plug or a coil of metal to block the blood entering the AVM. This will shrink and cure of the AVM over time. Embolization is lung and brain Avms, but not in the liver of the Avm.
  • The surgical removal. Rarely, the best way to treat certain arteriovenous malformations of the brain or the lungs to remove with surgery.
  • Stereotactic radiotherapy. This procedure is of Avm in the brain. It uses beams of radiation coming from different directions. Found in the AVM to treat it.
  • Liver transplant. Rarely, the treatment of Avms in the liver is a liver transplant.

Lifestyle and home remedies

To help prevent the HHT nosebleeds, you may want to:

  • Non-use of certain medications. The risk of bleeding may be increased in the use of certain drugs and medications without prescription. These include aspirin, ibuprofen (Advil, Motrin IB, others), fish oil supplements, ginkgo, St. John's wort.
  • Not eating certain foods. In some people, blueberries, red wine, dark chocolate or spicy foods can cause HHT nosebleeds. Try to keep a food diary to see if there is any link between what you eat and how bad your nosebleeds are.
  • Keep your nose moist. The use of saline sprays, lotions or gels that add moisture to help reduce the risk of bleeding. The use of a bedside humidifier at night is also useful.
  • Do not lift heavy objects. Bending over and lifting heavy objects can cause nosebleeds.

Preparing for your appointment

Here's some information to help you prepare for your appointment.

What you can do

When you make the appointment, ask if there is something that you need to do before you arrive, such as fasting before having a certain test. Make a list of:

  • Their symptoms , and when they began.
  • Key personal information , including major stresses, recent life changes and family medical history.
  • All medications, vitamins or supplements that you are taking, including the dosage.
  • Questions to ask your health care professional.

Have a friend or family member, if possible, to help you remember what your health care team tells you.

Some basic questions to ask include:

  • What is likely causing my symptoms?
  • What tests do I need?
  • Is my condition likely to go away or to the last?
  • What treatment do you suggest?
  • I have these other health conditions. How can I best manage them together?
  • There are restrictions that must be followed?
  • You should see a specialist?
  • Are there brochures or other printed material I can have? What websites do you suggest?

Be sure to ask all the questions that you have.

What to expect from your doctor

Your healthcare provider is likely to ask you questions, such as:

  • The symptoms been continuous or come and go?
  • How bad are the symptoms?
  • What, if anything, seems to improve your symptoms?
  • What, if anything, appears to worsen your symptoms?
Symptoms and treatment of Hereditary hemorrhagic telangiectasia