Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemophagocytic lymphohistiocytosis (HLH) is named as hemophagocytic syndrome (HPS) and is a complicated disease with reactive hyperplasia of mononuclear/macrophagocytic system. This disease characterised by release of massive cytokines and severe functional destruction of visceral organs, which results from immune function disturbance causing by various pathogenic factors. The cardinal clinical symptoms of HLH are prolonged fever, hepatosplenomegaly, cytopenia, elevated ferritin and triglycerides, low fibrinogen, symptom in nerve system and so on. Nevertheless, impaired function of natural killer cells and cytotoxic T-cell is characteristic for HLH. HLH has of two different types that may be difficult to distinguish from one another: a primary and a secondary form. The combined immunochemotherapy of dexamethasone, etoposide and cyclosporin A and hematopoietic stem cell transplantation are considered as the effective therapies for HLH. In this article, the recent advance in research on the etiological factors, pathogenesis, clinical manifestations, laboratory examination, diagnosis as well as recommended therapy of HLH were reviewed.
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PMID:[Research advance on hemophagocytic lymphohistiocytosis]. 2013 60

Background. Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, immunodeficiency, coagulopathy and late-onset, progressive neurological dysfunction. It also has an "accelerated phase" characterized by hemophagocytic lymphohistiocytosis (HLH). The disease is caused by mutations in the CHS1/LYST gene located on chromosome 1, which affects lysosome morphology and function. We report the case of an African-American child with CHS in Case. This 16-month old African-American girl presented with fever and lethargy. The proband had pale skin compared to her parents, with light brown eyes, silvery hair and massive hepatosplenomegaly. Her laboratory evaluation was remarkable for pancytopenia, high serum ferritin and an elevated LDH. Bone marrow aspirate revealed large inclusions in granulocytes and erythrophagocytosis consistent with HLH. Genetic evaluation revealed two novel nonsense mutations in the CHS1 gene: c.3622C > T (p.Q1208X) and c.11002G > T (p.E3668X). Conclusions. Our patient is one of the few cases of CHS reported in the African American population. We identified 2 nonsense mutations in the CHS1 gene, the first mutation analysis published of an African-American child with Chediak-Higashi Syndrome. These two mutations predict a severe phenotype and thus identification of these mutations has an important clinical significance in CHS.
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PMID:Two novel mutations identified in an african-american child with chediak-higashi syndrome. 2036 92

In order to profoundly understand the clinical and laboratorial characteristics and inducing factors of hemophagocytic lymphohistiocytosis syndrome (HLH), 28 HLH patients received from 2004 to 2009 years in our hospital were analyzed retrospectively. The results indicated that all of the patients had a history with prolonged fever (more than 1 week), pancytopenia, hepatosplenomegaly, elevated ferritin level, hypofibrinogen, and hemophagocytosis in bone marrow. HLH was the first characteristic sign of malignant lymphoma in 9 patients; 1 patient had a clinical manifestation similar to fulminant hepatic failure; severe psycho-abnormality occurred in 1 HLH patient and pronounced hemophagocytosis were detected in his cerebrospinal fluid; 1 patient was eventually diagnosed as having HLH by the findings in a lymph node biopsy showing obvious hemophagocytosis. Additionally, the analysis of underlying factors in 28 patients with HLH indicated 11 patients with EB virus-associated HLH, 11 with lymphoma-associated HLH, 2 with Leishmania-associated HLH, and 3 with autoimmune disease-associated HLH. It is concluded that HLH disease is characterised with high heterogenicity in both clinical features and inducing factors; in addition, the patients from a pasturing area should be paid attention to parasite infection such as leishmania.
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PMID:[Clinical analysis on 28 patients with hemophagocytic lymphohistiocytosis syndrome]. 2041 89

Hemophagocytic syndrome (HS) may be primary, or secondary, to malignancy, or to metabolic, collagen vascular, and infectious diseases such as brucellosis, miliary tuberculosis and some viral and fungal infections. The diagnostic findings of HS are high fever, hepatosplenomegaly, cytopenia, high serum ferritin and triglycerides, and low serum fibrinogen levels. Brucellosis is a zoonotic disease, with fever, fatigue, sweating, arthritis, hepatosplenomegaly, lymphadenopathy, and cytopenia being the most common symptoms and findings. Hematological manifestations of the disease may include anemia, leucopenia, leukocytosis, thrombocytopenia, and thrombocytosis. Brucellosis may occur in association with HS. Here, we describe brucellosis associated HS in an 8 year-old male patient. The patient was admitted to our clinic with weight loss, arthralgia, prolonged fever, sweating, and fatigue. Physical and laboratory findings revealed hepatosplenomegaly, pancytopenia, elevated serum transaminases, triglycerides, lactate dehydrogenase, and ferritin, and with erythrocytes, leukocytes, and thrombocytes phagocytosed by macrophages indicating hemophagocytosis. The Brucella agglutination test was positive. The patient improved after treatment with Rifampin (15 mg/kg/day) and trimethoprim-sulfamethoxazole (10 mg/kg/day).
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PMID:A rare hematological manifestation of brucellosis: reactive hemophagocytic syndrome. 2045 34

The objective of this study is to evaluate the clinical features and prognosis of adult-onset Still's disease (AOSD). One hundred and four AOSD patients who were analyzed retrospectively were enrolled in this study. Medical charts were systematically reviewed for: demographic data, clinical features, laboratory findings, treatments, and outcomes. The major clinical features were: spiking fever 100%, evanescent maculopapular rash 95%, polyarthralgia 90%, sore throat 78%, lymphadenopathy 66%, hepatosplenomegaly 57%, hydrohymenitis 30%, neutrophilia 98%, liver disfunction 62%, increased erythrocyte sedimentation rate (ESR) 96%, and hyperferritinaemia 99%. Reactive hyperplasia was shown in all patients who underwent lymph node biopsy. Ninety-five percent and 63% of the patients were treated with glucocorticoid and immune suppressant, respectively. Those with prednisone or its equivalent dosage of > or =0.8 mg/kg/d achieved quicker remission and less relapse. Persistent fever, evanescent rash, arthritis, and sore throat were the most prevalent symptoms in patients with AOSD, with laboratory findings of leukocytosis, elevated liver enzymes, elevated ESR and serum ferritin. Glucocorticoid and immune suppressive drugs are effective for AOSD; however, the relapsing rate is relatively high. High levels of white blood cells, serum ferritin and ESR, as well as glucocorticoid dosage were related to relapse.
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PMID:Clinical features and prognosis in adult-onset Still's disease: a study of 104 cases. 2054 76

Hyperferritinemia occurs in Gaucher disease but its clinical spectrum or its association with systemic iron overload and HFE mutations are not known. In 114 patients with Type 1 Gaucher disease, we determined serum ferritin, transferrin saturation and HFE genotype. The results were correlated with the extent of hepatosplenomegaly, overall Gaucher disease severity score index, and response to enzyme replacement therapy. In a subset of patients with radiological and/or laboratory evidence of systemic iron overload, liver biopsy was performed. There was a mean 3.7-fold elevation of serum ferritin over the upper limit of normal (ULN). Prior splenectomy was associated with most severe hyperferritinemia compared to patients with intact spleen (6.53 x ULN vs. 2.69 x ULN, P = 0.003). HFE genotyping revealed two patients homozygous for H63D mutation and 30% of patients heterozygote carriers of H63D mutation; no patients harbored C282Y mutation; there was no correlation of ferritin with HFE genotype. Ferritin level correlated with liver volume (Pearson correlation coefficient = 0.254, P = 0.035) and it was negatively correlated with hemoglobin (r = -0.315, P = 0.004); there was no relationship with other indicators of Gaucher disease activity. Enzyme replacement therapy (ERT) resulted in amelioration of hyperferritinemia: 707 +/- 898 ng/ml vs. 301 +/- 310 ng/ml (P = 0.001), transferrin saturation remained normal. Three patients were suspected of clinical iron overload, confirmed on liver biopsy. Iron accumulation was variably noted in hepatocytes and Kupffer cells. There is a high prevalence of hyperferritinemia in Type 1 Gaucher disease that is associated with indicators of disease severity, reversed by ERT and is not related to HFE mutations.
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PMID:Hyperferritinemia and iron overload in type 1 Gaucher disease. 2057 41

We report a case of tuberculosis associated with hemophagocytic syndrome (HPS) which was complicated by treatment with infliximab for Crohn's disease. A 48-year-old woman was admitted because of fever, diarrhea and general malaise. Her condition did not improve with treatment for recurrence of Crohn's disease, and an abnormal shadow was pointed out on chest imaging. She was referred to our department and received a diagnosis of tuberculosis based on the results of smear and polymerase chain reaction examination of the sputum and bone marrow. HPS was suspected based on subsequent results such as hepatosplenomegaly, leukocytopenia, elevated ferritin, disseminated intravascular coagulation, hemophagocytosis of nucleated red cells, and leukocytes in the bone marrow. She was treated with antituberculous drugs, steroids and gamma globulin, and improved. A diagnosis of tuberculosis during the administration of infliximab therapy was very difficult because of atypical clinical symptoms and images e.g. the abscence of cavities or nodular shadows on her chest roentgenogram. To the best of our knowledge this case is the first report of tuberculosis associated with HPS, which was complicated by treatment with infliximab.
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PMID:[Tuberculosis associated with hemophagocytic syndrome complicated by treatment with infliximab]. 2060 90

A 49-year-old woman with a history of adult-onset Still's disease (AOSD) presented with fever, general malaise and a rash. Laboratory blood testing revealed an extremely high level of serum ferritin, essentially restricting the differential diagnosis to either haemophagocytic syndrome as a complication of AOSD, or a flare-up of the latter. Haemophagocytosis as a complication of AOSD was diagnosed in our patient. After treatment with prednisone, she fully recovered and the serum ferritin returned to a normal level. Haemophagocytic syndrome is a rare but potentially life-threatening complication of lymphoproliferative and autoimmune diseases, as well as of viral infections. It is characterised by high fever, hepatosplenomegaly, cytopenia and extremely high levels of serum ferritin. Activation of macrophages and histiocytes induces phagocytosis of erythrocytes in the bone marrow and other parts of the reticuloendothelial system. The fact that haemophagocytic syndrome and AOSD are often described together, and coincide with extremely elevated serum ferritin levels characteristic to both entities, suggests a related pathogenesis.
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PMID:[Adult-onset Still's disease and haemophagocytic syndrome]. 2117 60

Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is a rare and frequently fatal disorder caused by an uncontrollable and ineffective systemic immune response. Patients initially present with fever, cytopenia, and hepatosplenomegaly, and subsequently develop multiorgan failure (MOF). Hemophagocytosis can be found on biopsy specimen but is not required. Acquired forms of HLH can occur in apparently healthy adults, while children present more often with an inherited form of the disease. Since HLH often presents with sepsis-like symptoms and organ dysfunction, patients are usually treated for presumed sepsis, which inevitably leads to delayed diagnosis and treatment. Intensivists need to have a low threshold for suspecting this disorder when previously healthy individuals present with a fulminant sepsis-like syndrome, which are unresponsive to conventional treatment. We present 3 patients with HLH who were admitted to our adult medical intensive care unit (MICU) over a 2-year period with fatal outcomes and emphasize the diagnostic importance of markedly elevated serum ferritin levels and the need for tissue biopsy in making an accurate diagnosis in a timely manner.
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PMID:What intensivists need to know about hemophagocytic syndrome: an underrecognized cause of death in adult intensive care units. 2596 95

Hemophagocytic lymphohistiocytosis (HLH), also known as hemophagocytic syndrome (HS), is a life-threatening hyperinflammatory condition caused by uncontrolled proliferation of activated lymphocytes and histiocytes producing excessively proinflammatory cytokines. HLH can occur in all age groups. The most common syndromes are: prolonged fever, hepatosplenomegaly, unspecific neurological symptoms, pancytopenia, hemophagocytosis. Characteristic biochemical markers include high triglycerides, ferritin and decreased fibrinogen. There are two forms of HLH, primary (genetic) and acquired (secondary to infections, malignant and autoimmune diseases). Occurrence of both forms of HLH, acquired and genetic, is induced by infections, usually viral or by other triggering agents. Despite established diagnostic criteria many cases probably remain unrecognized. The main diagnostic difficulty is low specificity of symptoms, and in secondary form contemporary occurrence of symptoms of underlying disease. The aim of HLH treatment is to suppress hyperinflammation, what can be achieved by use of immunosuppressive/immunomodulating agents or cytostatics. Patients with genetic form of HLH require hematopoietic stem cell transplantation. Awareness of the symptoms and diagnostic criteria of HLH is important for early diagnosis and immediate application of life-saving therapy.
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PMID:[Hemophagocytic lymphohistiocytosis: diagnostic problems in pediatrics]. 2134 73


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