Hereditary amyloidoses: diagnosis and management

Hereditary amyloidoses form a clinically and genetically heterogeneous group of autosomal-dominantly inherited diseases. They typically present with axonal sensory-motor polyneuropathy which incapacitates the patient within a few years, accompanied by carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy and gastrointestinal features. Occasionally, vitreous opacities and renal insufficiency are present. Rarely, the CNS is involved. Diagnosis is often missed because of late onset of the disease (as late as age 78 years) and lack of clinically affected relatives. Without therapy, death occurs 5–15 years…