HEMORRHAGIC TELANGIECTASIA, HEREDITARY (HHT)

Hemorrhagic telangiectasia, hereditary (HHT), is an inherited illness in which aberrant connections between veins and arteries, known as arteriovenous malformations (AVMs), occur. The nose, brain, lungs, and liver are the most commonly affected organs. 

These AVMs can expand over time, rupture, or bleed, resulting in life-threatening problems. The most prevalent symptom is unprovoked nosebleeds, which can occur regularly. Also, consistent nose and intestinal bleeding can lead to severe iron deficiency and a poor quality of life.

If you have HHT, you should have your children tested for the illness because it can affect them even if they don’t show signs.

SYMPTOMS

The following are some of the signs and symptoms of hemorrhagic telangiectasia, hereditary (HHT):

  • Nosebleeds, which can occur daily and often begin in childhood
  • Fragile red vessels or little red patches, especially on the lips, fingertips, face, tongue, and inside mouth corners
  • Breathing problems
  • Iron deficiency anemia
  • Seizures
  • Headaches

DIAGNOSIS

A physical examination and a family history may be used to identify hemorrhagic telangiectasia, hereditary (HHT). Some symptoms, however, may not be visible in children or young adults. Your doctor may also recommend that you have HHT genetic testing, which can verify a probable diagnosis.

  • Magnetic resonance imaging (MRI)
  • Ultrasound imaging
  • CT Scan
  • Bubble study

TREATMENT

If you or your child has hereditary hemorrhagic telangiectasia (HHT), seek therapy in a medical center that has managed the condition before. However, finding a specialist can be challenging due to the disorder’s rarity.

Hormone-related medicines may be one of the treatment procedures for HHT. These medications slow the breakdown of clots and drugs that stop blood vessels from growing. 

Among the other procedures are:

  • Surgical removal. Surgical removal of AVMs in the lungs, brain, or liver may be the best option for some people. The AVM’s location, especially in the brain, can enhance surgical risks.
  • Embolization. A long, narrow tube is threaded into your blood vessels to the problematic area, where a metal coil is inserted to prevent blood from entering the AVM, which diminishes and cures over time.
  • Liver transplant. A liver transplant is an unusual treatment option for AVMs in the liver.
  • Stereotactic radiotherapy. AVMs in the brain are treated with this treatment. To kill the AVM, it uses radiation beams from various directions that converge at the AVM.

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