Thank you for viewing our presentation. This is a case report on prolonged function with Batiu Sibran and a patient with hereditary transstiritin amyloidosis with polyneuropathy variant ALA-60. This patient is a 50-year-old male with HATTR with polyneuropathy. He was diagnosed with HATTR via fat pad biopsy three years after the onset of his symptoms. Chronologically, he first developed severe diarrhea followed by bilateral lower extremity weakness one and a half 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 Batiu Sibran six months after diagnosis with stabilization of symptomatology. He was referred to physiatry three years after diagnosis due to gait dysfunction associated with pain, paresthesias, and a significant decline in muscle mass due to a 30-pound weight loss. Currently, he does not need assistive equipment, though stairs remain a significant barrier due to poor foot clearance during the swing phase of the gait cycle. He was prescribed physical therapy for strengthening and electrodiagnostics to evaluate the extent of nerve damage and was advised to avoid heavy lifting or prolonged aerobic exercise. 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 axonal loss mixed sensory motor polyneuropathy. Patients with more common variants of HATTR present with progressive sensory polyneuropathy, then sensory motor polyneuropathy, before becoming nonambulatory. This patient has ALA-60 variant found in individuals with Irish descent, including a 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 patiseran, which has preserved relative function several years out from onset of symptoms by degrading transteritin mRNA. In conclusion, patiseran can improve functional outcome and prolong independent function in patients with HATTR.

hereditary transstiritin amyloidosis

polyneuropathy variant ALA-60

cardiology evaluation

Batiu Sibran medication

gait dysfunction