Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia

Abstract

Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the case of a 25-year-old woman known for TRMA, who presented with pancytopenia (haemoglobin 7.6 g/dL, leucocytes 2.9×10/L, thrombocytes 6×10/L) revealed by dyspnoea. Investigations excluded coagulopathy, a recent viral infection, vitamin and iron deficiencies, and a malignant process. We later found out that thiamine treatment had been discontinued 5 weeks before, due to prescription error. Parenteral thiamine administration resulted in the recovery of haematopoiesis within 3 weeks. Pancytopenia is uncommon in patients with TRMA. Pre-existing medullary impairment caused by the patient's daily antipsychotic medications or the natural course of the syndrome may explain the severity of the laboratory findings in our patient.

Starvation-induced diplopia and weakness: a case of beriberi and Wernicke’s encephalopathy

“…Other aetiologies can be divided into those caused by nutrition deficits and those by absorption defects. Nutrition deficits occur when intake of thiamine is inadequate, such as in hyperemesis gravidarum, anorexia and self-neglect as in our present case 13 18. As absorption of thiamine is mostly carrier-mediated at the jejunum and ileum, absorption defects can be caused by gastrointestinal tract surgery and inflammatory bowel disorders 19–21…”

“…Commonly associated symmetric signal changes and enhancement can also be seen in the mamillary bodies, periaqueductal area and tectal plate 2 23. Atypical MRI findings, which are more commonly present among non-alcoholic patients, include signal alterations in the cerebellum, cranial nerve nuclei, splenium and cerebral cortex 11 13 18…”

Mechanisms Underlying Antipsychotic-Induced NAFLD and Iron Dysregulation: A Multi-Omic Approach

“…Development of NAFLD has been associated with AA treatment in preclinical models and patient populations [ 35 , 36 , 37 , 38 ], and patients treated with AA medications have been reported to have significantly higher rates of iron-deficiency anemia [ 17 , 26 , 39 , 40 , 41 , 42 , 43 , 44 ] and obesity [ 12 , 13 , 14 , 15 ]. Despite these reports, pathophysiological mechanisms by which AA treatment can lead to NAFLD and disruptions in iron homeostasis remain virtually unexplored.…”