PAT1 Occult hereditary spherocxtosis masquerading as autoimmune hemolxtic anemia in a patient with systemic lupus erxthematosus. (Pathology).

PAT1 OCCULT HEREDITARY SPHEROCXTOSIS MASQUERADING AS AUTOIMMUNE HEMOLXTIC ANEMIA IN A PATIENT WITH SYSTEMIC LUPUS ERXTHEMATOSUS. T. Coke, MD, G. Cusano, DO, R. Mehta, MD, M. Holguin, MD, W. Koss, MD, and E. Rappaport, MD. Scott & White Memorial Hospital and the Texas A & M University System Health Science Center College of Medicine, Temple, Tex.

We present a 27-year-old female with a 10-year history of SLE. She presented to our clinic with intermittent fever and jaundice. An initial CBC was performed and revealed an anemia, marked polychromatophilia, numerous spherocytes, a slightly elevated MCHC, and mild thrombocytopenia. The initial evaluation suggested a diagnosis of hemolytic anemia, which has been reported in SLE. When a direct and an indirect Coombs' test were negative, however, hematology consult was obtained. The physical exam results were similar with the additional finding of a palpable spleen tip. A repeat CBC revealed a reticulocytosis of over 10%, an elevated LDH, a slightly elevated MCHC, and a markedly decreased haptoglobin. The impression of the hematology consult was that of an active hemolytic anemia of undetermined etiology. The patient's sister, who worked nearby, was interviewed as to the possibility of an inherited hematologic problem. The sister gave a history of having a cholecystectomy at the age of 18 years and of having a splenectomy. The sister's CBC showed the presence of rare spherocytes and Howell-Jolly bodies. The history along with the hematologic data were consistent with hereditary spherocytosis. Indeed, hereditary spherocytosis was the cause of the patient's hemolytic anemia. In conclusion, the patient's CBC and history were suggestive for autoimmune hemolytic anemia, but hid an underlying hereditary spherocytosis. This hereditary spherocytosis was only elucidated by evaluation of the sister of the patient CBC and history. A review of the literature shows that hereditary spherocytosis can be a masquerader of autoimmune hemolytic anemia among other conditions.