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Keywords:
Hemophagocytic lymphohistiocytosis, liver biopsy, pancytopenia
Abstract
Hemophagocytic lymphohistiocytosis is a life-threatening, macrophage-related hyperinflammatory disorder that presents with sepsis like syndrome. The clinical presentation, laboratory findings, and histopathological features can be variable and nonspecific, and considerable overlap with other disorders is observed. Since hepatomegaly and hepatic dysfunction occur early in the disease, demonstration of hemophagocytosis in liver biopsy facilitated the diagnosis in our case, which was missed earlier on bone marrow aspiration study for pancytopenia.
Introduction
Hemophagocytic lymphohistiocytosis (HLH) is a result of uncontrolled macrophage activation with prominent phagocytosis of platelets, erythrocytes, and lymphocytes and hematopoietic precursors. Attempt should be made to establish or rule out HLH in patients presenting with fever, multisystem inflammation, and varying degrees of unexplained pancytopenia. Owing to the guarded prognosis associated with HLH, differentiation from other causes of pediatric liver disease is critical and is a diagnostic challenge.
Case Report
A 6-year-old male child born out of a consanguinous marriage presented with prolonged fever, bleeding gums, epistaxis, generalized lymphadenopathy, and hepatosplenomegaly of 1? month duration. Child had been irritable since 1? week. Melena was noticed. On examination, child had hepatosplenomegaly, mild generalized lymphadenopathy, and ecchymotic patches. Ultrasonography showed liver enlargement of 16.6 cm and spleen enlargement of 14.4 cm with few enlarged coeliac group of lymph nodes [Figure 1]. A? clinical diagnosis of leukemia was followed by routine investigations that revealed anemia (hemoglobin 7.5? g/dl), pancytopenia (total leukocyte count of 3300/cm and platelet count of 94,000/cm) but bone marrow (BM) aspiration excluded leukemia. Megaloblastic erythropoiesis with megakaryocytic hyperplasia was seen. Coagulation profile showed prolonged bleeding time 8'30" (Duke's method). Urine examination detected hematuria. The hepatomegaly and hepatic dysfunction with raised alkaline phosphatase 160? IU/L and serum glutamic oxaloacetic transaminase 21? IU/L and serum glutamate-pyruvate transaminase 30? IU/L warranted a liver biopsy despite the thrombocytopenia as it was necessary to establish or exclude a diagnosis of pediatric liver disease. The prominent sinusoidal Kupffer cell hyperplasia and conspicuous hemophagocytosis with extramedullary hemopoiesis led to a strong suspicion of HLH [Figure 2]. The second line of investigations revealed raised LDH levels 301 U/L (110.00-295.00? IU/L), normal ferritin levels 42.40? ng/mL (7.00-140.00? ng/mL), and hypertriglyceridemia 190? mg/dl and reduced fibrinogen levels 130? mg/dl. A? careful review of BM aspiration showed hemophagocytosis of erythrocytes,...