Abstract
Familial amyloidosis ATTR V30M is an hereditary disorder, the most frequent type of transthyretin related amyloidosis. The main manifestation of the disease is a sensory-motor and autonomic polyneuropathy. Other manifestations occur such as cardiovascular, gastrointestinal, ocular, renal and hematological disorders. Anemia is a common feature, and occurs late in the disease course. It is associated with low erythropoietin production. Decreased production can start early in the course of the disease and precede clinical symptoms. The possible underlying pathogenic mechanisms are discussed.
Keywords: Familial amyloidosis ATTR V30M, transthyretin, anemia, EPO, neuropathy, kidney, glaucoma, neuroprotection.
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