DIAGNOSTIC DILEMMA Aimee K. Zaas, MD Thomas J. Marrie, MD, Section Editors
Cobalamin Deficiency Causing Severe Hemolytic Anemia: A Pernicious Presentation Natasha Chhabra, MD, Steve Lee, MD, Elias G. Sakalis, MD New York University School of Medicine, New York.
PRESENTATION What began as an exciting day visiting New York City for a Peruvian family became an even more memorable stay at Bellevue Hospital. A 52-year-old Peruvian man without known medical history was touring the Empire State Building when he suddenly felt weak and lightheaded, with associated substernal chest pressure. An ambulance brought the patient to Bellevue Hospital’s Emergency Department. Further history revealed that 6 months before presentation, the patient began having 1 to 2 daily episodes of loose stool associated with bloating but without signs of bleeding or mucus. He endorsed a 30-pound weight loss as well as early satiety and fatigue during the 4 months before presentation. The patient admitted to occasionally consuming raw fish, a remote history of heavy alcohol use, and family history of gastric cancer in his father at age 53 years.
ASSESSMENT The patient was alert, oriented, and hemodynamically stable, with a blood pressure of 114/66 mm Hg and pulse ranging from 90 to 100 beats per minute. On physical examination, he was pale, diaphoretic, anicteric, and without skin purpura or ecchymoses. He did not exhibit any stigmata of bleeding and had a normal rectal examination. He had a normal gait and was without focal neurological deficits. Admission laboratory results include the following: peripheral white blood cell count 6.3 109/L with normal differential, hemoglobin concentration 4.3 g/dL, platelets 76 109/L, mean corpuscular volume 136.8 fL, reticulocyte 2.48%, with otherwise normal basic metabolic panel and a negative troponin. Hepatic panel showed the following: aspartate Funding: None. Conflict of Interest: None. Authorship: Please note that all authors had access to the data and a role in writing the manuscript. Requests for reprints should be addressed to Natasha Chhabra, MD, New York University School of Medicine, 145 E. 27th Street, Apt 7B, New York, NY 10016. E-mail address: [email protected] 0002-9343/$ -see front matter Ó 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.amjmed.2015.05.048
transaminase 81 U/L, alanine transaminase 44 U/L, total bilirubin 1.7 mg/dL, and direct bilirubin 0.6 mg/dL. The differential for severe anemia with associated thrombocytopenia was initially very broad. As the patient remained hemodynamically stable with no evidence of ongoing blood loss, acute gastrointestinal bleeding or vascular disruption was less likely. Hematologic aberrancy, such as myelodysplastic syndrome or thrombotic thrombocytopenic purpura (TTP), was a significant concern given anemia with concomitant thrombocytopenia. A peripheral smear showed macrocytic dysmorphic red blood cells with slight basophilic stippling and occasional schistocytes with hypersegmented neutrophils (Figures 1 and 2). Additional laboratory results showed a B12 level of 116 pg/mL (reference range 200-700 pg/mL), folate level 14.47 ng/mL (reference range 4.1-22.0 ng/mL), homocysteine level >50 umol/L (normal
Cobalamin Deficiency Causing Severe Hemolytic Anemia: A Pernicious Presentation Natasha Chhabra, MD, Steve Lee, MD, Elias G. Sakalis, MD New York University School of Medicine, New York.
PRESENTATION What began as an exciting day visiting New York City for a Peruvian family became an even more memorable stay at Bellevue Hospital. A 52-year-old Peruvian man without known medical history was touring the Empire State Building when he suddenly felt weak and lightheaded, with associated substernal chest pressure. An ambulance brought the patient to Bellevue Hospital’s Emergency Department. Further history revealed that 6 months before presentation, the patient began having 1 to 2 daily episodes of loose stool associated with bloating but without signs of bleeding or mucus. He endorsed a 30-pound weight loss as well as early satiety and fatigue during the 4 months before presentation. The patient admitted to occasionally consuming raw fish, a remote history of heavy alcohol use, and family history of gastric cancer in his father at age 53 years.
ASSESSMENT The patient was alert, oriented, and hemodynamically stable, with a blood pressure of 114/66 mm Hg and pulse ranging from 90 to 100 beats per minute. On physical examination, he was pale, diaphoretic, anicteric, and without skin purpura or ecchymoses. He did not exhibit any stigmata of bleeding and had a normal rectal examination. He had a normal gait and was without focal neurological deficits. Admission laboratory results include the following: peripheral white blood cell count 6.3 109/L with normal differential, hemoglobin concentration 4.3 g/dL, platelets 76 109/L, mean corpuscular volume 136.8 fL, reticulocyte 2.48%, with otherwise normal basic metabolic panel and a negative troponin. Hepatic panel showed the following: aspartate Funding: None. Conflict of Interest: None. Authorship: Please note that all authors had access to the data and a role in writing the manuscript. Requests for reprints should be addressed to Natasha Chhabra, MD, New York University School of Medicine, 145 E. 27th Street, Apt 7B, New York, NY 10016. E-mail address: [email protected] 0002-9343/$ -see front matter Ó 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.amjmed.2015.05.048
transaminase 81 U/L, alanine transaminase 44 U/L, total bilirubin 1.7 mg/dL, and direct bilirubin 0.6 mg/dL. The differential for severe anemia with associated thrombocytopenia was initially very broad. As the patient remained hemodynamically stable with no evidence of ongoing blood loss, acute gastrointestinal bleeding or vascular disruption was less likely. Hematologic aberrancy, such as myelodysplastic syndrome or thrombotic thrombocytopenic purpura (TTP), was a significant concern given anemia with concomitant thrombocytopenia. A peripheral smear showed macrocytic dysmorphic red blood cells with slight basophilic stippling and occasional schistocytes with hypersegmented neutrophils (Figures 1 and 2). Additional laboratory results showed a B12 level of 116 pg/mL (reference range 200-700 pg/mL), folate level 14.47 ng/mL (reference range 4.1-22.0 ng/mL), homocysteine level >50 umol/L (normal
