Familial haemophagocytic lymphohistiocytosis: two case reports (original) (raw)
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Acta Paediatrica, 2007
Haemophagocytic lymphohistiocytosis (HLH) is a life threatening inflammatory syndrome, which presents a highly stimulated but ineffective immune response with severe hypercytokinaemia. HLH, primary or secondary, is characterised by prolonged fever and hepatosplenomegaly associated with pancytopenia, hypertriglyceridaemia and hypofibrinogenaemia. However, the hallmark of HLH is impaired or absent function of natural killer cells and cytotoxic T lymphocytes. HLH presents major diagnostic difficulties, since it may have an incomplete and/or late onset and with many conditions leading to the same clinical picture. When untreated, it is fatal in all primary cases and in a high percentage of acquired cases. Awareness of the clinical picture and diagnostic criteria is thus important to start life saving treatment. We describe two cases of primary HLH, with significant differences in their clinical presentation and evolution. Background Haemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory condition, with uncontrolled proliferation of activated lymphocytes and histiocytes secreting high amounts of inflammatory cytokines. However, this is an ineffective immune response, since there is an impaired function of lymphocytes.1 HLH occurs in association with a variety of conditions (genetic or acquired) leading to the same inflammatory phenotype. Whether primary or secondary, it is characterised by prolonged fever and hepatosplenomegaly associated with pancytopenia, hypertriglyceridaemia and hypofibrinogenaemia.2 Increased concentrations of cytokines and impaired or absent function of natural killer cells (NK) and cytotoxic T lymphocytes are biological markers of HLH. The non--specific signs and symptoms, with multiorgan involvement and sometimes with an incomplete and/or late onset, make HLH a disease with major diagnostic and therapeutic difficulties. Diagnostic and therapeutic guidelines, based on common clinical, laboratory and histopathological findings, were presented by the HLH Study Group of the Histiocyte Society (revised in
Haemophagocytic Lymphohistiocytosis: A Case Report and Short Overview
Journal of Shaheed Suhrawardy Medical College, 2018
Haemophogocyticlymphohistiocytosis (HLH) is a rare but potentially fatal disease, which describes a clinical syndrome of hyper-inflammation resulting in uncontrolled and ineffective immune response. It appears commonly in infancy, although it has been seen in all age groups. A vast majority of cases are acquired due to secondary causes (infections, autoimmune, malignancy, metabolic disorders) but primary HLH (genetic) is also not uncommon which also gets triggered by infection as suggested by recent studies. "Hypercytokinemia" which is the hallmark of HLH can result in end organ damage and even death in some cases if there is delay in diagnosis. The pathological hallmark of this syndrome is uncontrolled activation of T lymphocytes and macrophages, together with an impaired cytotoxic function of NK cells and CD8+T lymphocytes resulting into massive cytokine release (e.g. interferon-ã, TNF-á, Interleukin-6, 8, 10, 12, 18) from this cells and overwhelming inflammation. Lymphocytes and macrophages sometimes with haemophagocytic activity accumulate in bone marrow, spleen, liver or lymph nodes. This disorder is characterized by fever, hepatosplenomegaly, lymphadenopathy, skin rash, cytopenias, hepatitis, coagulopathy, and neurological symptoms. We report a case of 55 yr. old male presenting with fever and high colored urine who developed clinical and laboratory findings consistent with diagnosis of HLH according to HLH-2004 guidelines. Unfortunately the patient died despite receiving chemotherapy. HLH has multifaceted clinical presentations with often non-specific signs and symptoms that are often found in other clinical conditions. Early recognition of HLH is critical in initiating therapy early and preventing high mortality resulting from multi-organ failure.
Hemophagocytic lymphohistiocytosis : epidemiological, clinical and biological profile
Background/aim: Hemophagocytic lymphohistiocytosis (HLH) is a clinical, biological, and pathological entity that is rare but has certain morbidity that may be life-threatening. This work aims to establish a focus on the hemophagocytic lymphohistiocytosis and analyze different aspects of diagnosis while emphasizing the biological data. Materials and methods: We report the results of a retrospective study conducted in the hematology department of Avicenna Hospital in Marrakesh. Thirty-one patients with hemophagocytic lymphohistiocytosis were enrolled. Results: The clinical presentation was dominated by fever and deterioration of the general state for almost all our patients. Splenomegaly was objectified in 90% of the patients. Hepatomegaly, lymphadenopathy, and hemorrhagic manifestations were observed in almost 50% of the patients. Biological assessments revealed bi-or pancytopenia in 96% of the patients, and coagulation disorders in 51% of the patients. On the other hand, hyperferritinemia was found in 84% of the patients, and hepatic cytolysis and hypertriglyceridemia in half of the patients. Hemophagocytosis was observed in all bone marrow samples taken from our patients. Concerning the evolution of patients, in 38.5% of the patients, the evolution was favorable with regression of clinical and biological signs. Twenty six percent of the patients had died, mainly from multiple organ failure and disseminated intravascular coagulation. Conclusion: HLH is a diverse condition with many causes and is likely to be under-recognized, which contributes to its high morbidity and mortality. Clinicians need to be able to recognize the signs and symptoms commonly seen in HLH and actively pursue this diagnosis in the cases of undiagnosed febrile illness with multiorgan dysfunction. Early recognition is crucial for any reasonable attempt at curative therapy to be made.
Hemophagocytic Lymphohistiocytosis: A Life Threatening Cytopenic Condition
Faridpur Medical College Journal, 2021
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder that occurs in many underlying conditions in all age. This is characterized by unbridled activation of cytotoxic T lymphocytes, natural killer (NK) cells and macrophages resulting in raised cytokine level. Those cytokines and immune mediated injury occur in multiple organ systems. It may be primary and secondary. Primary HLH is familial, childhood presentation and associated with gene mutations. Secondary HLH is acquired, adulthood presentation that occurs in infections, malignancies inflammatory and autoimmune diseases etc. Clinical manifestations include fever, splenomegaly, lymphadenopathy, neurologic dysfunction, coagulopathy, features of sepsis etc. Laboratory investigation includes cytopenias, hypertriglyceridemia, hyperferritinemia, abnormal liver function, hemophagocytosis, and diminished NKcell activity. Treatment modalities include immunosuppressive, immunomodulatory agents, cytostatic drugs, T-cell an...
Hemophagocytic Lympho Histiocytosis (HLH)
Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyper-inflammatory condition caused by a highly stimulated, but ineffective immune response, characterized by a dys-regulated activation and proliferation of macrophages leading to uncontrolled phagocytosis of platelets, erythrocytes, lymphocytes and their hematopoietic precursors throughout the reticulo-endothelial system. HLH is a distinct clinical entity characterized by fever, pancytopenia, splenomegaly and hemophagocytosis in bone marrow, liver, or lymph nodes. HLH also occurs as a complication of rheumatic diseases and of malignancies. Awareness of the clinical symptoms and of diagnostic criteria for HLH (Histiocyte society; HLH study 2004) is crucial to starting life-saving therapy in time. We have reported a case of 7 year old male child presenting with respiratory distress, distension of abdomen and deep jaundice. This case report may be an eye opener to the pediatricians and other physicians to recognize this rare entity of infection triggering fatal HLH and thus proper treatment may be instituted in those affected with this disease at the earliest.
Hemophagocytic lymphohistiocytosis (HLH), also known as hemophagocytic syndrome, is a very uncommon and life-threatening hematologic disorder that occurs as a primary or acquired disease. Secondary HLH usually appears in the setting of infections, underlying rheumatologic disorders or lymphoid malignancies. Clinically the syndrome is characterized by fever, multiple cytopenias, hepatosplenomegaly and activated macrophages in hematopoietic organs. We describe a rare case of HLH in the context of abdominal pain and fever of unknown origin, dramatic worsening and, finally, successful evolution with immunosuppressive therapy. In addition, we review the available literature on this topic. A 70 year-old man was admitted to our hospital with cough, fever, abdominal pain with no alteration of the gastrointestinal transit and progressive poor performance status, presenting for two weeks. He was previously treated with amoxicillin and then levofloxacin with a poor clinical response. Examination revealed a fever of 38º and confused state. Blood tests showed minor thrombocytopenia (87,000 platelets/mL), elevated