Hereditary Hemorrhagic Telangiectasia

January 17, 2011
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Hereditary Hemorrhagic Telangiectasia has many different names but Osler-Weber-Rendu Syndrome is the other one that you might hear when talking about this disorder. These are both a blood disorder that makes the blood not clot as well as normal blood. People usually would hear this and confuse it with hemophilia, when actually they’re two different disorders. Hemophilia is where the blood has less platelets making it more difficult for the blood to clot when there is a cut or break in the skin, when hereditary hemorrhagic telangiectasia (HHT) is where the blood vessel its self is mangled and deformed making it easy rupture or burst. With these damaged blood vessels they could lead to some very bad internal bleeding and reoccurring nosebleeds. This blood disorder isn’t a common thing but it still happens. In America it is 1-2 cases per every 100,000 population per year but in the world it’s 1-2 cases per every 10,000 population, the disorder is even more common the Danish island of Fyn, the Dutch Antilles, and parts of France (Wolfe 2010).

HHT is a genetic disorder, hence ‘hereditary’ being the first word in disorder; it’s passed down from either one or both parents. When one or both of the parents has a certain gene, it, usually, leads to the offspring having this blood disorder. It’s not an infectious disease or a disease that can be caused by a pathogen. So far there are two chromosomes believed to be the cause of this disorder (Wolfe 2010). The disease seems to occur mainly in the white population but has also occurred in African, Asian, and Arabic descents, but it doesn’t seem to affect a certain sex and that there is no certain time when someone will show signs of this disorder. (Wolfe 2010).

There are several different signs of this disorder. The most common is red or violet looking legions around their mouth, face, nose, and fingers and toes; but some of the signs aren’t visible from the outside. You may have these same legions on the inside of your GI (gastrointestinal) tract (George 2009). Another sign is also visceral arteriovenous malformation or AVM. AVM is where there are no capillaries but consists of direct connections between veins and arteries (Guttmacher 2009).
Some of the symptoms that go along with this disorder happen to be just what you expected, excessive bleeding. Reoccurring nose bleeds is one of the visible symptoms. But it’s the ones you don’t see that can be deadly. The symptoms that you can’t see are GI bleeding and perfuse nose bleeds. Some patients develop pulmonary arteriovenous fistulas which can produce left-to-right shunts, which can lead to a whole lot of others problems (George 2009). In some of the worst cases it can cause seizures, subarachnoid bleeding, and paraplegia. Another problem that they have with this disorder is the lose of iron in their blood from the constant bleeding; from Their GI tract and their nosebleeds.

Due to acute complications the life span of a person with HHT is significantly lower than most normal people, early peak 50 years old late peak 60-79 years old (Wolfe 2010). Some of the causes of those stats are that a lot of the people will need blood transfusions because of the loss of blood that they get from the internal bleed. The blood loss also gets worse with age. Another big factor is that this disorder also cause CNS problems (central nervous system), also, due to the AVMs that can be caused by this disorder, there is also a high risk for high-output cardiac failure.
There are no vaccines for this disorder but there are some treatments for it. One of the treatments is laser ablation or surgical resection where they remove the legions. Another thing that they can do won’t get rid of the disorder but it will help your health. They can give you iron supplements to help with the lose of iron through all the bleeding. They can also give you blood transfusions for the loss blood because of the nose bleeds and the GI bleeding. Although these aren’t 100% cures for HHT doctors are working on something that will help get rid of the disorder and save lives around the wor

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