HHT
HHT is a rare genetically inherited disorder in which some blood vessels do not develop properly.
People with HHT may form AVMs, which are abnormal blood vessels linking arteries to veins directly, without any capillaries (tiny blood vessels that are usually present) between arteries and veins. AVMs are often fragile and can burst much more easily than other blood vessels.
If discovered early, effective treatments are available. However, there is no cure for HHT. Complications - some of which are potentially life-threatening - and treatment depend on the parts of the body that are affected by the condition.
When someone with HHT has children there is a 50% chance the child will receive the mutant gene from his or her parent. At least three different genes can cause HHT.
Common symptoms include nosebleeds, fatigue, migraines, anemia, small strokes and, like Alex, brain abscesses and seizures.
Common AVM Locations & Treatments
There is no overall cure for HHT.
Physicians must treat the symptons as they arise.
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Brain & Spinal Cord
Brain AVMs and other vascular malformations are only found in 5-20% of people with HHT, and spinal AVMs are even rarer.
· Embolization · Surgical removal · Gamma knife (focused radiation)
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Nose
Nasal Telangiectasias (and hand, face, and mouth) are the most common AVMs and 90% of HHT patients will develop recurring nosebleeds with varying severity. They usually cause no damage besides the distinctive red mark, though sometimes build enough pressure to cause pain.
· Injections · Cauterisation · Laser treatment · Coagulation therapy · Embolisation
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Lung
About 50% of people with HHT develop lung (pulmonary) AVMs. Untreated PAVMs can allow blood clots through to the brain. Occasionally they burst and fill the lungs with blood, causing drowning. They are particularly dangerous as bacteria or air bubbles can cause abscesses or strokes.
· Embolization - metal coils or plugs that lessen blood flow · Surgical removal of part of the lung · In extreme cases a lung transplant may need to be considered
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Liver
Liver AVMs are present in about 50% of HHT patients but only cause symptoms in less than 10%. They occasionally cause heart failure in overworked hearts or other complex conditions, but usually require no treatment.
· Embolization · Standard heart failure treatment · Liver transplant · Medications
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Stomach & Gastrointestinal
About 80% of people with HHT have AVMs in their stomach and gastrointestinal tract, but only 20% develop bleeding. Often bleeding in the GI tract goes unnoticed untl the person develops anemia, easily treated with iron supplements. Anemia is more often due to nosebleeds.