What Is Transthyretin Amyloid Cardiomyopathy?

Q:
What is transthyretin amyloid cardiomyopathy?

A:
Transthyretin amyloid cardiomyopathy (ATTR-CM), also known as familial amyloid cardiomyopathy (FAC), results from the aggregation and deposition of mutant and wild-type transthyretin (TTR) protein in the heart.

In patients with ATTR-CM, because of the high blood pressure, heart disease is usually misdiagnosed as ischemic heart disease. The symptoms of transthyretin amyloid cardiomyopathy frequently occur after 50 years old.

Common symptoms may present as sensation loss, weakness and pain in arms and legs, urinary retention, reduced sweating, shortness of breath, fatigue, weight loss, chest pain, kidney failure, blindness, protein loss in the urine, etc.

Unfortunately, no treatments are currently approved for transthyretin amyloid cardiomyopathy except supportive care, but drugs like tafamidis and diflunisal may be effective.

 

Keywords: transthyretin amyloid cardiomyopathy; FAC; ATTR-CM; transthyretin amyloid cardiomyopathy drugs.

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