The transthyretin amyloidosis: mini review and description of three cases among members of the same family

Abstract

Transthyretin amyloidosis (ATTR) is a rare, progressing autosomal-dominant, systemic disease caused by the extracellular deposition of insoluble amyloid fibrils formed by mutated transthyretin (TTR) in various organs and tissues of the body: peripherical and autonomic nerves, heart and other organs. The development of ATTR is associated with at least 100 different transthyretin mutations, the substitution of methionine for valine at position 30 is the most common ATTR-associated mutation. Patients with the same mutation demonstrate a variety of clinical manifestations depending on the differences in environmental and genetic factors. The main clinical features of ATTR are progressive sensor-motor and autonomous polyneuropathy, damage of various organs and systems with a variety of clinical manifestations. Involvement of kidneys is manifested by impaired function and proteinuria. Microalbuminuria may be the first symptom of kidney damage, even before the onset of neuropathy. Since TTP is synthesized mainly in liver, liver transplantation has been considered as the main method of treatment for a long time. However new possibilities of drug therapy are now available. The absence of pathognomonic symptoms, clinical variability and unawareness of doctors about this disease lead to difficulties in diagnostics. Untimely diagnosis significantly worsens the prognosis and life quality. Here we present some literature data and clinical observation of familial TTR amyloidosis with kidney involvement found in three member of the same family.