Disclosures: Jeremy Roberts, MD: No financial relationships or conflicts of interest

Case Description: This is a patient diagnosed with hATTR via fat pad biopsy 3 years after onset of symptoms. Chronologically, he first developed severe diarrhea followed by bilateral lower extremity weakness 1.5 years later with eventual lower extremity and left hand paresthesias and orthostatic hypotension. Cardiology evaluation revealed an increase in wall thickness. He was started on patisiran 6 months after diagnosis with stabilization of symptomatology. He was referred to physiatry 3 years after diagnosis due to gait dysfunction associated with pain, paresthesias, and a significant decline in muscle mass due to 30lb weight loss.

Setting: Tertiary Care Hospital

Patient: 58 year old male with hereditary transthyretin amyloidosis (hATTR) with polyneuropathy. Assessment/

Results: He does not need assistive equipment though stairs remain a significant barrier due to poor foot clearance during swing phase of the gait cycle. He was prescribed physical therapy for strengthening, electrodiagnostics to evaluate extent of nerve damage, and advised to avoid heavy lifting or prolonged aerobic exercise.

Discussion: hATTR has several variants and is extremely rare with increased incidence in Japan and several European countries. In 2018, the global population with hATTR was estimated to be 10,186. Amyloidosis typically presents with an axon loss, mixed sensorimotor polyneuropathy. Patients with more common variants of hATTR present with progressive sensory polyneuropathy then sensorimotor polyneuropathy before becoming non-ambulatory. This patient has ALA-60 variant, found in individuals with Irish descent (prevalence of 1.1% in Northwest Ireland), which is more frequently associated with cardiomyopathy and autonomic neuropathy rather than peripheral polyneuropathy. Median survival is approximately 6.6 years from onset of symptoms and 3.4 years from diagnosis. He is currently on patisiran which has preserved relative function several years out from onset of symptoms by degrading transthyretin mRNA.

Conclusion: Patisiran can improve functional outcome and prolong independent function in patients with hATTR.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/prolonged-function-with-patisiran-in-a-patient-with-hattr-variant-ala60-a-case-report/