Portuguese Polyneuritic Amyloidoses (PPA), also known as "Amyloid Neuropathy Type I" or "Familial Amyloidotic Polyneuropathy (FAP) Type I," is a rare inherited disorder that affects the peripheral nervous system. It is predominantly found among individuals of Portuguese descent, particularly those from northern Portugal.
PPA is characterized by the abnormal accumulation and deposition of abnormal proteins or amyloid fibrils in various tissues and organs, causing progressive damage to nerve cells. This leads to a variety of neurological symptoms, primarily affecting the peripheral nerves. Common manifestations include sensory disturbances, such as numbness, tingling, and pain, predominantly in the extremities. Muscle weakness, loss of reflexes, and difficulties with motor coordination may also develop as the disease progresses.
The age of onset, severity, and specific symptoms of PPA can vary among affected individuals, even within the same family. Symptoms may begin in early adulthood, but can also emerge later in life. PPA is typically inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition to each of their children.
There is currently no cure for PPA, and management focuses on symptom relief and supportive care. Treatment options may include medications to alleviate pain, physical therapy to improve muscle strength and coordination, and assistive devices to aid mobility. Ongoing research efforts aim to develop disease-modifying therapies to slow progression or prevent the accumulation of amyloid proteins. Genetic counseling is recommended for individuals with a family history of PPA to understand their risk and make informed decisions.
