Definition:
Familial amyloid polyneuropathy, otherwise known as Corino de Andrade's Disease, is a deadly and untreatable health condition that was first identified in the 1950s. This disease is characterized by amyloidogenic transthyretin protein that aer systematically deposited particularly in the peripheral nervous system of the body.
Diagnosis:
Familial amyloid polyneuropathy, as with other types of amyloidosis, is diagnosed depending on the use of Congo red staining in biopsies. For several years, diagnosing the disease was done using rectal biopsy. Currently, diagnosis has been made more efficient through the use of subcutaneous fat aspiration.
Treatment:
Up until the 90s, there was never any effective treatment method for the various symptoms of familial amyloid polyneuropathy. The 90s ushered in a promising cure when physicians made use of liver transplantation in addressing the problems associated with the disease.
Symptoms and Signs:
Symptoms of familial amyloid polyneuropathy includes muscle weakness, pain, autonomic dysfunction, and paresthesia which typocall manifest when the patient is around 20-40 years old. Familial amyloid polyneuropathy at the terminal stage affects the heart and the kidneys.
Causes:
Familial amyloid polyneuropathy is a genetically-transmitted disease. That is, parents can pass it on to their sons as a single mutated gene is enough for its transmission.
:
familialamyloidpolyneuropathy
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