Case report:
18-year-old Qatari lady, known case of DiGeorge syndrome, presented with a history of intermittent high-grade fever, runny nose, and cough productive of whitish sputum. On the day of presentation, the patient developed nausea and three episodes of yellowish, non-blood-stained vomiting. There were no sick contacts or recent travel. The review of the system was remarkable for dark urine and 5 Kg of weight loss over the preceding 10days. The patient had no history of alcohol use and did not follow a specific diet; however, meat was limited in her diet due to dietary preferences.
Her history was significant for recurrent childhood infections, attributed to immunosuppression secondary to DiGeorge syndrome. She was also diagnosed with patent ductus arteriosus and a small ventricular septal defect. Both were hemodynamically insignificant and managed conservatively. The patient also suffered from a learning disability and attention deficit hyperactivity disorder (ADHD), which were also attributed to the DiGeorge syndrome.
Upon presentation, the patient was febrile (38.7 C) and tachycardiac (118 beats per minute) but had no desaturation, tachypnea, or hypotension. Physical examination revealed a young lady sitting comfortably in bed, not in any distress. The conjunctivae were pale and scleral icterus was noted. The rest of the physical exam was within normal limits. A complete sepsis screen, including a chest X-ray, urine culture, blood cultures, malaria screen, and a nasopharyngeal swab for the respiratory viral screen, including RT-PCR for COVID-19, was sent looking for an underlying infection. The results were negative except for the presence of rhinovirus and adenovirus in the nasopharyngeal swab. A complete blood count showed neutrophilic leukocytosis and severe macrocytic, hypochromic anemia (hemoglobin 3.5gm/dL) with high red cell distribution width. [Table 1]
An anemia workup showed reticulocytosis, a high LDH, and low haptoglobin with indirect hyperbilirubinemia keeping in line with intravascular hemolysis. Peripheral blood smear showed marked macrocytic anemia with anisocytosis, basophilic stripling, nucleated red blood cells, increased rouleaux formation, and red cell agglutination. Hyper-segmented neutrophils (>6 lobes) were also noted. Other laboratory workup was unrevealing. [Table 1]
With a working diagnosis of hemolytic anemia likely precipitated by an underlying infection, the direct Coomb’s test for polyspecific antihuman globulin (AHG) was sent and was positive. The monospecific AHG was positive for anti-IgG and negative for anti-C3d. An eluate was prepared and tested for confirmation of antibodies, and the positive elution test confirmed the presence of warm IgG antibody-induced autoimmune hemolytic anemia (AIHA). A complete autoimmune screen was negative. Serum IgG, IgM, C3, and C4 levels were within normal limits. A computerized tomography scan of the chest, abdomen, and pelvis was performed to rule out any underlying malignancy as the cause of hemolysis and was unrevealing. Bone-marrow examination showed features consistent with active hematopoiesis and a normal B and T-cell population.
The patient received two units of packed red cells and 100mg intravenous of methylprednisolone. A hematology opinion was sought, and the patient was planned to receive seven days of intravenous (IV) methylprednisolone, followed by a tapering course of oral steroids. Also, she received intravenous immunoglobulin (IVIG) for three days. She also received IV cyanocobalamin 1000mcg daily for the duration of her hospital stay and will continue oral vitamin B12 therapy. The patient’s hemoglobin was stable throughout her hospital stay, and she will be followed up in the hematology clinic for further management. [Figure 1]