Swiss Type Amyloid Polyneuropathy, also known as ATTR amyloidosis, is a rare genetic disorder characterized by the accumulation and deposition of abnormal amyloid protein in various tissues and organs throughout the body. Specifically, it primarily affects the peripheral nerves, leading to a progressive polyneuropathy or damage to multiple peripheral nerves simultaneously.
This condition is referred to as "Swiss Type" due to its association with a specific mutation in the transthyretin (TTR) gene that was initially identified in individuals from the Swiss population. The mutation causes the abnormal production and deposition of amyloid protein in organs such as the peripheral nerves, heart, and kidneys.
The symptoms of Swiss Type Amyloid Polyneuropathy typically manifest in adulthood and may include numbness, tingling, weakness, and pain in the extremities, as well as autonomic dysfunction, such as gastrointestinal issues, postural hypotension, or abnormal heart rhythm. Over time, these symptoms may progress, leading to significant impairment in mobility and activities of daily living.
Diagnosis of Swiss Type Amyloid Polyneuropathy involves a combination of clinical evaluation, family history, genetic testing to identify the TTR gene mutation, and assessment of amyloid protein deposition through imaging and tissue biopsies.
Currently, treatment options for Swiss Type Amyloid Polyneuropathy primarily focus on symptom management and preventing disease progression. Medications, such as liver transplant-associated therapies, and novel drugs aiming to reduce abnormal TTR protein production or stabilizing the TTR protein structure are being investigated as potential treatment approaches. Additionally, supportive therapies and interventions such as physical therapy and pain management may be utilized to improve the quality of life for affected individuals.
