Portuguese Type Familial Amyloid Neuropathy, also known as ATTR Val30Met amyloidosis, is a rare inherited disorder that affects the nervous system and leads to the accumulation of abnormal protein deposits in various tissues of the body. This condition is primarily found in individuals of Portuguese descent, hence the name.
In Portuguese Type Familial Amyloid Neuropathy, a specific genetic mutation in the transthyretin (TTR) gene causes the liver to produce abnormal transthyretin protein. This protein then forms amyloid fibrils that deposit in organs and tissues, particularly the peripheral nerves. The accumulation of these amyloid fibrils disrupts the normal function of nerves, leading to progressive nerve damage and dysfunction.
Initially, individuals with Portuguese Type Familial Amyloid Neuropathy may experience symptoms such as numbness, tingling, and pain in the limbs, which then progress to weakness, loss of coordination, and muscle wasting. As the disease advances, it can affect other organs, including the digestive system, heart, and eyes.
Diagnosis of Portuguese Type Familial Amyloid Neuropathy involves a combination of clinical examination, family history evaluation, and genetic testing to identify mutations in the TTR gene. Biopsy of affected tissues, such as nerves or abdominal fat, may also be performed to confirm the presence of amyloid deposits.
Treatment for Portuguese Type Familial Amyloid Neuropathy aims to manage the symptoms and slow down the progression of the disease. This may involve medications to reduce the production or deposition of abnormal transthyretin, pain management, physical therapy, and supportive care to address complications associated with organ involvement.
Overall, Portuguese Type Familial Amyloid Neuropathy is a hereditary disorder characterized by the accumulation of abnormal protein deposits, leading
