SPINAL STENOSIS IN FAMILIAL TRANSTHYRETIN AMYLOIDOSIS

BackgroundTransthyretin-associated amyloidosis (ATTR) is the commonest cause of hereditary amyloidosis. Age at onset is 50–60 years with average life-expectancy of 7–14 years. Lumbar spinal stenosis also presents in late middle-age; related to disc degeneration, spondylolisthesis and age-related degenerative processes, such as WT-TTR amyloid deposition. Mutant-TTR has not been described in this scenario. Recent therapeutic developments in ATTR, with disease modifying potential, make histological evaluation clinically relevant.CaseFamily history prompted screening in an asymptomatic female carrier (heterozygous I84S) at age 42. At age 47 she developed sensory disturbance and pain in the left leg, brought on by exercise and relieved by rest. One year on, exercise tolerance