Prolonged Function with Patisiran in a Patient with hATTR variant ALA60: A Case Report-Prolonged Function with Patisiran in a Patient with hATTR variant ALA60: A Case Report

Prolonged Function with Patisiran in a Patient with hATTR variant ALA60: A Case Report

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Video Summary

This case report discusses a 50-year-old male patient with hereditary transstiritin amyloidosis with polyneuropathy variant ALA-60. The patient experienced severe diarrhea followed by lower extremity weakness and paresthesias. Cardiology evaluation revealed an increase in wall thickness. The patient was started on Batiu Sibran medication and experienced stabilization of symptoms. However, he later developed gait dysfunction, muscle loss, and weight loss. Physical therapy and electrodiagnostics were prescribed to evaluate nerve damage. HATTR is a rare condition with different variants, and this patient has the ALA-60 variant associated with cardiomyopathy and autonomic neuropathy. Patiseran medication has shown to preserve function in patients with HATTR.

Keywords

hereditary transstiritin amyloidosis

polyneuropathy variant ALA-60

cardiology evaluation

Batiu Sibran medication

gait dysfunction