Hereditary Transthyretin Amyloidosis (hATTR)

Understanding Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis)

Hereditary Transthyretin Amyloidosis (hATTR amyloidosis) is a progressive, genetic disease caused by mutations in the TTR (transthyretin) gene. These mutations result in misfolded TTR proteins that form amyloid deposits in various organs and nerves, leading to damage in the heart, peripheral nerves, and other tissues. hATTR is inherited in an autosomal dominant pattern, meaning that each child of an affected parent has a 50% chance of inheriting the mutated gene.

Common Signs and Symptoms of hATTR Amyloidosis:

• Cardiac Symptoms:

  • Heart failure or cardiomyopathy
  • Irregular heart rhythms (arrhythmias)
  • Shortness of breath and fatigue during physical activity

• Neurological Symptoms:

  • Peripheral neuropathy resulting in numbness, tingling, or pain in the hands and feet
  • Weakness or loss of coordination
  • Autonomic dysfunction such as dizziness upon standing or gastrointestinal disturbances

• Other Potential Symptoms:

  • Unexplained weight loss
  • Carpal tunnel syndrome
  • Gastrointestinal issues like diarrhea or constipation

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.