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Familial ATTR amyloidosis is an inherited disease, where the body makes a mutant form of a protein called "transthyretin." Transthyretin is abbreviated "TTR" and is the reason this disease is called familial ATTR amyloidosis.
While everyone produces transthyretin, the mutated form is more likely to form into amyloid fibrils. Many different mutations have been identified; one of the most common is called "V-122-I" and is particularly common in individuals of African descent.
Familial ATTR amyloidosis most commonly affects the heart and nerves. Other organ involvement may occur, but is uncommon. Though it is a very serious disease, the prognosis for familial ATTR amyloidosis is overall better than AL amyloidosis, as it usually progresses at a slower rate.
Diagnosing familial ATTR amyloidosis
Early diagnosis of familial ATTR amyloidosis is very important to successful treatment. Because the disease is inherited, genetic screening can be an effective way to identify a patient's family members who may carry the mutation.
If an individual is identified as carrying the genetic mutation for familial ATTR amyloidosis, further screening for manifestations of the disease is required. Additional screening will continue on a regular basis. Genetic counseling and testing for familial ATTR amyloidosis is available through the Stanford Amyloid Center.
Treatment for familial ATTR amyloidosis
As the liver produces the mutated transthyretin protein, a liver transplant may be a treatment option, if the disease is caught early enough. Patients with severe heart involvement may benefit from a heart transplant.
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