Familial Amyloid Neuropathies (FANs) are a group of rare genetic disorders characterized by the abnormal deposition of amyloid protein in various tissues and organs, resulting in progressive damage and dysfunction. These neuropathies primarily affect the peripheral nerves, leading to a variety of neurological symptoms.
Amyloid, in this context, refers to an insoluble proteinaceous substance that forms aggregates and deposits in tissues, impairing their normal structure and function. FANs are inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, there can also be sporadic cases without any family history.
The most commonly affected tissues in FANs are the peripheral nerves, which are responsible for transmitting signals between the central nervous system and the rest of the body. As a result, individuals with FANs may experience progressive sensory loss, muscle weakness, and autonomic dysfunction. These symptoms can manifest in various regions of the body, such as the limbs, abdomen, bladder, and gastrointestinal tract. Additionally, FANs can also affect other organs, including the heart, kidneys, liver, and eyes.
Diagnosis of Familial Amyloid Neuropathies usually involves a combination of clinical evaluation, family history assessment, genetic testing, and analysis of a tissue biopsy. Treatment options for FANs are limited, focusing on symptom management and supportive care. However, ongoing medical research is exploring potential therapeutic approaches, including targeted drugs, to reverse or halt the progression of the disease.
