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.
