부산대학교 도서관

Megaloblastosis represents a wide group of disorders sharing a common pathophysiological pathway, due to defi cient intake or absorption of Vitamin B12 and folic acid. Major causes for this condition include alcoholism, achlorhydria, pernicious anemia or gastrectomy and celiac disease. It leads to abnormal DNA replication, impaired protein synthesis and nuclear maturation. It presents with macrocytosis, hypersegmented neutrophils, and elevated Lactate dehydrogenase (LDH) levels. It is more prevalent in underdeveloped countries and older populations, having similar gender distribution. Authors present the case of a 69-year-old man, with a previous known history of essential thrombocytosis, medicated with hydroxyurea (with irregular adherence to treatment), congestive heart failure and chronic alcoholism. He was admitted at the emergency room (ER) with symptoms of confusion, slurred speech and fatigue for a week. He presented mucosal palor, fever (38. 1ºC), splenomegaly, and a left lateral maleolar ulcer with a purulent exsudate. Blood values revealed pancytopenia (macrocytic anemia Hb 4. 1 g/dL and MCV 123 fi); Leukocytes 1110x106/L; Platelet count 30. 000x106/L), acute renal failure (blood urea nitrogen 97 mg/dL; creatinine 2. 5 mg/ dL) LDH 1545 U/L. He underwent blood transfusions at the ER, without previous iron tests screening. On subsequent evaluation, authors found levels of Vitamin B12 of 172 pg/mL and folate 0. 9 nmol/L. Patient underwent a bone marrow aspiration with bone biopsy, compatible with megaloblastic anemia. An endoscopy was performed, with histological fi ndings suggestive of atrophic gastritis, with no H. pylori bacilli found. Additional tests such as anti-gastric parietal cells antibodies and anti-intrinsic factor antibodies, were negative. The patient was medicated with Vitamin B12 injections and folic acid, with good reticulocitary response. At discharge he presented, blood values of Hb 8. 7 g/dL; Leukocytes 7110x106/L; and platelet count of 862. 000x106/L. This represents a case of severe pancytopenia, enhancing the relevance of megaloblastosis as differential diagnosis for this entity.