Table 5.

Treatment of Manifestations in Individuals with Thiamine-Responsive Megaloblastic Anemia Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Megaloblastic anemia
  • Oral thiamine (vitamin B1) lifelong pharmacologic doses (50-100 mg/day)
  • Red blood cell transfusion for severe anemia
  • High-dose thiamine supplementation invariably improves hematologic picture.
  • There is no addl clinical benefit w/thiamine dose >150mg/day. 1
Sensorineural hearing loss See Hereditary Hearing Loss and Deafness Overview for treatment strategies for hearing loss. Treatment has incl cochlear implant. 2The efficacy of high-dose thiamine in improving hearing or delaying hearing loss remains unclear. High-dose thiamine supplementation did not prevent hearing loss in some studies. 3
Diabetes mellitus Standard treatment of DM per endocrinologist in addition to thiamine therapyHigh-dose thiamine supplementation may delay onset of DM & may ameliorate DM in short term & perhaps for decades.
Insulin requirements are ↓ w/thiamine therapy in some persons. 1
Thrombocytopenia Oral thiamine (vitamin B1) lifelong pharmacologic doses (50-100 mg/day)High-dose thiamine supplementation invariably improves hematologic picture.
Ophthalmologic manifestations Standard treatment of ophthalmologic manifestationsHigh-dose thiamine supplementation has not been evaluated as treatment for optic atrophy, cardiovascular abnormalities, or neurologic abnormalities assoc w/TRMA.
Cardiovascular manifestations Standard treatment of cardiovascular manifestations
Neurologic manifestations (incl stroke & seizures)Standard treatment per neurologist

DM = diabetes mellitus; TRMA = thiamine-responsive megaloblastic anemia syndrome

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From: Thiamine-Responsive Megaloblastic Anemia Syndrome

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