Early Diagnosis Crucial For Hereditary ATTR Amyloidosis

Early Diagnosis Crucial For Hereditary ATTR Amyloidosis A disease called hereditary ATTR amyloidosis (hATTR) is linked to a genetic mutation that has been passed through...

Understanding hATTR Amyloidosis

A disease called hereditary ATTR amyloidosis (hATTR) is linked to a genetic mutation that has been passed through generations of Americans with ancestors from West African countries such as Ghana, Sierra Leone, Cote d’Ivoire and Nigeria.1 Hereditary ATTR amyloidosis is difficult to diagnose and often missed by doctors and patients because its symptoms and related complications.

These include numbness, tingling or loss of sensation in the hands and feet, dizziness, and fainting, are similar to those of common conditions, such as diabetes and hypertension (high blood pressure). But unlike these conditions, which are frequently recognized and can be managed through a combination of lifestyle factors and a variety of available medicines, hereditary ATTR  amyloidosis is a complex, multi­-symptom disease that worsens over time if not addressed. 

What else should I know about hATTR Amyloidosis?

In people with hereditary ATTR amyloidosis, a protein called TTR is formed abnormally, resulting in a substance called amyloid building up in multiple organs and tissues of the body. This amyloid buildup causes organs to stop working normally. Genetic studies have indicated that West African ancestry is the most highly represented ethnicity among African Americans, and the inherited genetic mutation is as common in the United States as it is in West Africa.2,3,4 

Families of West African descent that carry the genetic mutation often have generations of relatives with unexplained heart problems. Research shows that non­-heart related symptoms can also occur in hereditary ATTR amyloidosis patients with West African ancestry, including carpal tunnel syndrome.5

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