Hereditary Telangiectasia – Condition and Symptoms
Hereditary Telangiectasia (also known as Hereditary Hemorrhagic Telangiectasia, HHT, Osler-Weber-Rendu syndrome and Osler-Weber Rendu disease), is a genetic disease leading to excess and abnormal blood vessel formation. The excess blood vessels may be formed in the skin or mucous membranes as well as in body organs. Common organs affected include:
- Brain
- Liver
- Lungs
There are number of symptoms common to hereditary telangiectasia, which may be evident in many combinations. The most common symptoms include:
- Nose bleeding
- Digestive tract bleeding
- Problems with the affected organ(s)
Treatments for hereditary telangiectasia typically focus on reducing the bleeding, especially internally. This often necessitates surgery to remove malformed veins. Iron supplements and blood transfusions are also commonly used if the person with hereditary telangiectasia is subject to chronic bleeding.
Telangiectasia are small vascular malformations which appear on the skin and in mucous lining inside the nose and GI tract. These lesions typically bleed intermittently. Often, the only noticeable symptoms are nosebleeds. Skin lesions, when present, tend to show up suddenly, often caused by exposure to the sun. Lesions become more prevalent as time goes on.
Only about 20% of people with hereditary telangiectasia suffer from internal lesions. It is not uncommon for these lesions to go completely unnoticed, even though they are depleting the body of iron and causing iron-deficient anemia. If the GI lesions are noticed, it is usually because a person has black stool or bloody vomiting.
The most dangerous symptom of the disease is arteriovenous malformation. These malformations occur in the large organs or (rarely) in the spinal cord. The problems and symptoms associated with the condition vary widely depending on which organs are affected. When the lungs are affected, for example, HHT tends to cause shortness of breath or breathlessness.
Regardless of which organ(s) are affected, the disease causes much of a person’s blood to bypass the bodily organs completely. This in turn causes the heart to increase its output, which leads to congestive heart failure. Other symptoms include swelling (commonly in the legs), breathing problems, and other organ-specific symptoms.
Medical imaging tests such as X-rays, MRIs, and CAT Scans are used to detect the presence or ateriovenous malformations, which must typically be removed surgically. These tests are also used, along with physical observation, to diagnose the condition in the first place.
There is no cure for hereditary telangiectasia, nor is there any known way to stop or slow the development of its symptoms. Treatment is limited to dealing with the symptoms as they present themselves. Besides surgery, the main treatment used involves supplementing the patient’s iron, either through iron tablets, iron solutions, or IV iron sucrose. When anemia becomes severe, blood transfusions are used.
Filing for Social Security Disability with a Hereditary Telangiectasia Diagnosis
Hereditary telangiectasia is found in Section 7.07 of the Blue Book, the SSA’s official listing of potentially qualifying conditions. In order to meet the listing requirements for Social Security disability benefits based on HHT, you must have bleeding severe enough to require three or more blood transfusions in the five month period before a decision is reached on your disability claim. More generic information about blood disorders and anemia are found in Section 7.00. This information also applies to disability claims for HHT.
Even if you don’t qualify for disability benefits as a direct result of your hereditary telangiectasia, you may qualify as a result of what your condition has on the affected organs. Your claim can be evaluated in relation to any and all major organs affected. If it is, the particular requirements for qualifying for disability benefits are found in the sections pertaining to those organs.
Most commonly these will be Section 11.00 for telangiectasia affecting the brain, Section 3.00 for telangiectasia affecting the lungs, Section 5.00 for telangiectasia affecting the liver, and sections 1.00 and/or 11.00 for telangiectasia affecting the spinal cord. If your telangiectasia affects other organs, the effects on that organ can be considered in their respective sections of the Blue Book.
When applying for disability benefits, you should make sure to include all medical documentation. This should especially include the results of any medical imaging tests. If a family genetic history has been put together, including it in your claim can also be helpful.
Your Hereditary Telangiectasia Disability Case
Applying for Social Security disability benefits can be trying, even under the best circumstances. It generally takes several months before you receive a decision. 70% of the time claimants are initially denied disability benefits. If you have hereditary telangiectasia, a denial does not necessarily mean that you can’t receive benefits, but rather that the SSA needs to see more proof of the condition’s effect on your ability to perform substantial gainful work.
Representation by a Social Security disability attorney has been shown to significantly improve claimant’s chances of having their claims approved at all stages of the disability claims and appeals process. To have an experienced Social Security attorney look over your claim and advise you, fill out the accompanying request for a free evaluation today.
