Hereditary Hemorrhagic Telangiectasia Can Lead to Social Security Disability
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder where small blood vessels called capillaries do not form properly. This condition is also called Osler-Weber-Rendu disease for the doctors who first described it in the early 1900's.
Symptoms
“People with HHT develop abnormal blood vessels that lack the capillaries that are usually present between each artery and vein.” This means that an artery connects directly to vein and the blood does not get squeezed through small capillaries before entering the vein. If an abnormal connection between artery and vein is close to the skin, it is called a telangiectasia. These appear as red or purple spots on the skin and typically appear on the lips, nose, and fingers. They can also appear on sun-exposed skin areas as well. If the abnormal connection is within an organ, such as the brain, lungs, liver, intestine, or other areas, it is called an arteriovenous malformation, commonly referred to as an AVM. One of the most common symptoms of HHT is nosebleeds. “About 90% of people with HHT have recurring nosebleeds by the time they reach middle age. They range from mild to severe and can cause an individual to require regular blood transfusions.”
Causes
HHT is caused by a genetic defect or mutation. “HHT is caused by defects in at least 3 genes, but only one abnormal gene is the cause in one family. HHT is considered an autosomal dominant disorder, which means that each child born of an HHT affected parent will have a 50% chance of inheriting the abnormal gene.” HHT does not differentiate between sexes or ethnicities. There is no cure.
Diagnosis
To diagnose HHT, doctors look at the frequency and intensity of nosebleeds, as well as the telangiectasia an individual has. Doctors also look at whether AVM are present on organ scans and whether a first-degree relative (brother, sister, parent or child) has HHT. Diagnosis is also done through genetic testing.
Treatments
“Treatment of a person's HHT depends on which parts of the body are affected. Some aspects (nosebleeds) are treated symptomatically, whereas as others are treated preventatively (lung and brain AVMs).” Nosebleeds can be cauterized when they happen or an individual can use lubrication to prevent nosebleeds from occurring or lessening the intensity if they do occur. If an AVM is located in the lung or brain, a doctor may recommend surgery or embolization (a small coil or plug is placed using a catheter to block off the blood flow to an AVM) to resolve the ATM before a complication occurs. If an AVM is in the digestive tract, iron replacement therapy is the first treatment option to deal with anemia. If the iron replacement therapy does not work, then endoscopic treatments cauterizing the bleeding area are used.
Social Security Disability
An individual with HHT may qualify for Social Security Disability (SSD), but only if their condition is extreme. The individual must show that they have a “hemorrhage requiring transfusion at least three times during the 5 months prior to adjudication.” If part of the SSD assessment is for anemia, the Social Security Administration requires that anemia “be evaluated according to the ability of the individual to adjust to the reduced oxygen-carrying capacity of the blood. A gradual reduction in red cell mass, even to very low values, is often well tolerated in individuals with a healthy cardiovascular system.” SSD applications require extensive documentation on an applicant's medical condition. If you are considering applying for disability benefits, contact our experienced attorney to assist you.
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