A rare medical condition caused by a defect in a transporter of
thiamine, which results in anemia, diabetes, puffiness, deafness. Situs
inversus viscerum totalis is also characteristic.
Thiamine-Responsive Anemia Syndrome; Thiamine-Responsive
Myelodysplasia; Thiamine-Responsive Megaloblastic Anemia Combined with
Diabetes Mellitus and Sensorineural Deafness.
First described by L.E. Rogers in 1969.
Autosomal recessive; caused by a defect in a
thiamine transporter protein (SLC19A2) located on 1q23.2-q23.3.
It is unclear but there is some evidence of
decreased uptake of thiamine into some cell types causing a thiamine-dependent state,
leading to similar features observed in “thiamine-deficiency beriberi of childhood.” The
thiamine reserve and synthesis are normal, however the patients require high-dose thiamine
therapy for treatment and for maintaining normal function. Relapse can recur on
discontinuation of thiamine therapy.
Clinical features include generalized puffiness, diabetes
mellitus, sensorineural deafness. Blood cell count shows megaloblastic
anemia or, occasionally, pancytopenia. Bone marrow aspirate shows
megaloblastic erythropoiesis and ringed sideroblasts. Urinary sample showed
aminoaciduria in one patient. Blood transketolase activity must be obtained to assess
thiamine status. Responsiveness to thiamine supplement is often immediate and
dramatic. Age of diagnosis is usually within first few years of life.
Characterized by megaloblastic anemia responsive
only to thiamine administration, diabetes mellitus, and sensorineural
deafness. Other clinical features of “beriberi” may be evident and include
generalized puffiness, hoarseness, cardiac failure, and neurological
disturbances. Most signs and symptoms are resolved on administration of high doses of
thiamine, however the presence of diabetes melitus may persist. Other
occasionally reported features include cardiac septal defects, progressive optic atrophy,
and situs inversus viscerum totalis.
Complete history and physical
assessment with further investigation depending on findings. Ensure the
correction of the hematological, neurological and cardiovascular symptoms by
administration of a high dose of thiamine. Fulminant “beriberi” symptoms are a
contraindication for anesthesia. Preoperative fasting and antidiabetic
medications should be tailored according to the severity of the diabetic
status and to the surgical procedure planned. Check blood sugar level preand
postoperatively. Evaluate cardiac function (clinical, chest radiographs,
There are no specific risks when the patient has been treated. Thiamine administration
should be continued during the perioperative period. The glycemia should be
monitored frequently and treated accordingly. The placement of central venous catheter
could be difficult because of anatomical anomalies as a consequence of situs inversus.
Prophylactic antibiotics in case of
Bazarbachi A, Muakkit S, Ayas M, et al: Thiamine-responsive
myelodysplasia. Br J Haematol
Neufeld EJ, Fleming JC, Tartaglini E, et al: Thiamine-responsive
megaloblastic anemia syndrome: A disorder of high-affinity thiamine
transport. Blood Cells Mol Dis 27(1):135, 2001.
Rogers L, Porter F, Sidbury J: Thiamine-responsive megaloblastic anemia. J Pediatr