What Is Hereditary Transthyretin Amyloidosis With Polyneuropathy?
Hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) is a rare, progressive, and fatal condition caused by the buildup of abnormal proteins called amyloid in the body, particularly affecting the nervous system and peripheral nerves.
hATTR-PN is caused by mutations in the transthyretin (TTR) gene, which leads to the production of abnormal TTR proteins. These proteins misfold and aggregate, forming amyloid deposits that accumulate in various organs and tissues, including the nerves, heart, eyes, kidneys, and gastrointestinal tract. The amyloid deposits damage the structure and function of these affected tissues and organs.
The main symptoms of hATTR-PN are related to the damage to the peripheral nerves. These symptoms typically begin in the lower limbs and may eventually spread to the upper limbs and other body parts. Common manifestations include:
- Progressive weakness and muscle atrophy, especially in the legs and hands
- Sensory disturbances, such as numbness, tingling, burning sensations, or loss of sensation in the extremities
- Autonomic nervous system dysfunction, which can affect blood pressure control, digestion, sweating, and sexual function
- Difficulty walking or maintaining balance
- Gastrointestinal problems, including constipation or diarrhea
- Vision problems, such as blurred vision or color distortions
The progression of hATTR-PN can vary among individuals, but it often leads to significant disability and eventually to respiratory failure and death. There is currently no cure for hATTR-PN, but treatment options aim to slow the progression of the disease, manage symptoms, and improve quality of life. This may include medications to stabilize TTR proteins, nerve pain management, physical therapy, and supportive care. Liver transplantation was previously the treatment of choice in eligible patients, but newer therapies that target the TTR protein have emerged as alternative treatment options.
Early diagnosis and prompt management of hATTR-PN are crucial to help slow disease progression and improve outcomes. If you experience any of the symptoms mentioned above and suspect you may have hATTR-PN, it is important to consult a healthcare professional for evaluation and appropriate management.