Hereditary ATTR amyloidosis is a rare genetic condition caused by misbehaving proteins. Amyloidosis, in general, is when abnormal proteins called amyloids build up in tissues and organs. Hereditary ATTR amyloidosis is slightly different. Learn more about this condition, its symptoms, and the latest treatment options.
Hereditary ATTR (hATTR) amyloidosis is passed down through families. People with this condition are born with a genetic mutation affecting the transthyretin (TTR) protein. Normally, the liver produces TTR to transport thyroid hormones and vitamin A through the blood. But with hATTR amyloidosis, the TTR protein misfolds, falls apart, and changes shape, interfering with vital organ function. Over time, these misfolded proteins clump together, forming amyloid deposits in tissues, particularly around the nerves and heart, and sometimes in the digestive system.
Amyloidosis comes in different forms. Wild-type ATTR amyloidosis (ATTRwt) isn’t hereditary; it happens due to the normal aging process and primarily affects men over age 60. In contrast, hereditary ATTR amyloidosis can begin affecting people as young as their 30s or 40s and often progresses more quickly. While both types share similar symptoms, the hereditary form is linked to a family history of the condition.
Hereditary ATTR amyloidosis prevalence is relatively low, affecting about 50,000 people globally. While rare, certain populations—including those with Portuguese, Swedish, and West African heritage—have a higher prevalence of specific TTR gene mutations, and those with the mutation have a high risk of developing symptoms.
Hereditary ATTR amyloidosis symptoms can vary greatly, but they usually include nerve-, heart-, and digestive-related issues. Symptoms to watch out for include:
Diagnosing hATTR amyloidosis is tricky, as symptoms vary widely and differ from person to person. Genetic testing is the most reliable way to confirm a diagnosis. Other diagnostic tests may include imaging, biopsies, and blood and urine tests to assess the extent of amyloid deposits.
Hereditary ATTR amyloidosis has no cure, but recent medical advances have made new treatments possible. Medications are now available to stabilize the TTR protein, slowing down or stopping the buildup of amyloid deposits. A liver transplant may also be considered in some cases. Simple lifestyle changes and regular monitoring are other ways to manage this condition.
Hereditary ATTR amyloidosis is a complex condition requiring skilled care. Dr. Matthew Jones of BKLYN Cardio can support you with routine cardiovascular monitoring and minimally invasive procedures to manage hATTR amyloidosis. Our Brooklyn practice has over 40 years of experience serving patients across New York City and beyond. To partner with us on your journey to better health, please book an appointment with our experienced cardiologist today.
