CORRLEATION OF PERNICIOUS ANEMIA WITH HOMOCYSTEINEMIA AND HETEROZYGOUS MTHFR MUTATION HELPS DIFFERENTIATE FROM DIAGNOSIS OF THROMBOTIC THROMBOCYTOPENIC PURPURA
Wu, Alex MD1, Chen, Kevin MD2, Sittambalam, Charmian MD1
1Department of Medicine, Franklin Square Medical Center, Baltimore, MD; 2Department of Hematology/Oncology, Franklin Square Medical Center, Baltimore, MD
There are increasing number of recent publications that recognized the similarity between TTP and B12 deficiency, and that TTP may mask B12 deficiency as the initial diagnosis. It had been hypothesized that hemolytic anemia may be more prominent in individuals with co-existing methylene tetrahydrofolate reductase (MTHFR) gene mutation and vitamin B12 deficiency associated with elevated homocysteine levels, often manifested in the peripheral blood smear as schizocytes. While TTP …show more content…
Patient was initially treated with steroids and plasma exchange for a presumed diagnosis of TTP. Subsequent laboratory data revealed an alternative diagnosis of pernicious anemia. ADAMTS13 in this hospitalization was found to be 78%. Additional blood work excluded infectious and autoimmune etiology including hepatitis, HIV and G6PD. DIC was ruled out based on clinical presentations and normal PPT even though prolonged PT/INR and elevated D-dimer were elevated. Supporting evidence for pernicious anemia included positive anti-parietal antibodies, low level of serum B12 level, high levels of MMA and homocysteine and elevated level of LDH even though MCV was less than 100. The clinical symptoms of our patient improved after being treated with monthly injection of vitamin B12 injections for 5
Wu, Alex MD1, Chen, Kevin MD2, Sittambalam, Charmian MD1
1Department of Medicine, Franklin Square Medical Center, Baltimore, MD; 2Department of Hematology/Oncology, Franklin Square Medical Center, Baltimore, MD
There are increasing number of recent publications that recognized the similarity between TTP and B12 deficiency, and that TTP may mask B12 deficiency as the initial diagnosis. It had been hypothesized that hemolytic anemia may be more prominent in individuals with co-existing methylene tetrahydrofolate reductase (MTHFR) gene mutation and vitamin B12 deficiency associated with elevated homocysteine levels, often manifested in the peripheral blood smear as schizocytes. While TTP …show more content…
Patient was initially treated with steroids and plasma exchange for a presumed diagnosis of TTP. Subsequent laboratory data revealed an alternative diagnosis of pernicious anemia. ADAMTS13 in this hospitalization was found to be 78%. Additional blood work excluded infectious and autoimmune etiology including hepatitis, HIV and G6PD. DIC was ruled out based on clinical presentations and normal PPT even though prolonged PT/INR and elevated D-dimer were elevated. Supporting evidence for pernicious anemia included positive anti-parietal antibodies, low level of serum B12 level, high levels of MMA and homocysteine and elevated level of LDH even though MCV was less than 100. The clinical symptoms of our patient improved after being treated with monthly injection of vitamin B12 injections for 5