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

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease resulting from an abnormal proliferation of histiocytes within the body's tissues leading to an ineffective immune response. Typically, HLH is characterized by fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hemophagocytosis. However, the premature infant with HLH may present differently making diagnosis of the disease cumbersome. If an infant is born with ascites, cytopenias, hypofibrinogenemia, and hepatosplenomegaly, a diagnosis of HLH cannot be ruled out. In addition, premature infants oftentimes will not present with fever because they are kept normothermic from ambient sources. Reports of premature infants with HLH in the literature are rare. This is a case presentation of a 27-week-gestation female with a family history of HLH.
 ...
PMID:Hemophagocytic lymphohistiocytosis in the premature neonate: a case study. 2001 Jan 43

Here, we describe a patient with Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis (HLH) who simultaneously presented with generalized erythroderma and dermatopathic lymphadenitis (DL). A 63-year-old Korean woman presented at our hospital with fever, hepatosplenomegaly, axillary lymphadenopathy, and generalized erythrodermic eruption. The bone marrow biopsy findings were consistent with the diagnosis of HLH, and EBV DNA was detected using the polymerase chain reaction. Based on serologic tests that indicated a primary EBV infection, the patient was diagnosed with EBV-associated HLH. Histopathologic analysis of enlarged lymph nodes was consistent with DL, and EBV-encoded small nuclear RNA-positive mononuclear cells were detected. We assume that activated histiocytes, lymphocytes, and proinflammatory cytokines in HLH may have important roles in the development of generalized erythroderma and DL. Disrupted epidermal/dermal junctions owing to erythroderma may also be involved in the development of DL.
 ...
PMID:Dermatopathic lymphadenitis with generalized erythroderma in a patient with epstein-barr virus-associated hemophagocytic lymphohistiocytosis. 2001 Feb 84

Hemophagocytic lymphohistiocytosis (HL) is a rare syndrome, although more common in children, that may be underdiagnosed. The clinical presentation can be aggressive, and patients may rapidly develop lethal multiple organ failure....HL simulates the presentation of infectious sepsis, although the response to treatment and evolution are worse. HL should be suspected in young children with persistent fever of unknown origin, general malaise, hepatosplenomegaly, cytopenia, elevated triglycerides and ferritin, and decreased fibrinogen. Brain MRI shows diffuse leptomeningeal and perivascular enhancement, patchy areas of hyperintensity in the white matter of both cerebral hemispheres on T2-weighted sequences, and cerebral atrophy. Diffusion-weighted sequences are useful for staging the lesions. We present a fatal case of familial HL and review the literature about the clinical, histological, and radiological characteristics of this disease.
 ...
PMID:[Familial hemophagocytic lymphohistiocytosis: Neuroradiological findings]. 2004 6

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.
 ...
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.
 ...
PMID:Two novel mutations identified in an african-american child with chediak-higashi syndrome. 2036 92

Hemophagocytic syndrome (HPS) is a rare but serious condition that is histopathologically characterized by activation of macrophage or histiocytes with hemophagocytosis in bone marrow and reticuloendothelial systems. Clinically it presents with high fever, hepatosplenomegaly, pancytopenia, liver dysfunction, and hyperferritinemia. Hepatitis A virus is a very rare cause of secondary HPS. We report a case of a 22-year-old woman infected by hepatitis A virus who was consequently complicated with HPS. She presented typical clinical features of acute hepatitis A, and showed clinical and biochemical improvements. However, HPS developed as a complication of acute hepatitis A and the patient died of intraperitoneal bleeding caused by hepatic decompensation and disseminated intravascular coagulation.
 ...
PMID:[A case of hemophagocytic syndrome complicated by acute viral hepatitis A infection]. 2037 46

Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory syndrome with prolonged high fever, hepatosplenomegaly and characteristic laboratory findings. HLH may be inherited (primary) or may be secondary to any severe infection, malignancy or rheumatologic condition. The last several years have witnessed an explosion in our understanding of HLH. Of the inherited causes for which the underlying genetic cause is known, most involve abnormalities of proteins important in the exocytosis cytolytic pathway, whereby perforin and granzymes are delivered to a target cell to induce apoptosis. The exact mechanisms underlying this process remain unclear. However, when a known genetic defect is not present, the diagnosis of HLH is still made on a constellation of clinical features and good clinical judgment. Rapid diagnosis is crucial, as early therapy with immunosuppressive agents and/or proapoptotic chemotherapy can be life-saving. This article examines recent advances in our understanding of the pathophysiology, clinical features, diagnosis, etiology and treatment of HLH, as well as the challenges that lie ahead.
 ...
PMID:Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy. 2038 97

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.
 ...
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).
 ...
PMID:A rare hematological manifestation of brucellosis: reactive hemophagocytic syndrome. 2045 34

Hemophagocytic lymphohistiocytosis (HLH) is an often-fatal hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, cytopenia, and in some cases hemophagocytosis. Here, we describe the mutation analysis, clinical presentation, and functional analysis of natural killer (NK) cells in patients with mutations in STXBP2 encoding Munc18-2, recently associated with familial HLH type 5. The disease severity among 11 persons studied here was highly variable and, accordingly, age at diagnosis ranged from 2 months to 17 years. Remarkably, in addition to typical manifestations of familial HLH (FHL), the clinical findings included colitis, bleeding disorders, and hypogammaglobulinemia in approximately one-third of the patients. Laboratory analysis revealed impairment of NK-cell degranulation and cytotoxic capacity. Interleukin-2 stimulation of lymphocytes in vitro rescued the NK cell-associated functional defects. In conclusion, familial HLH type 5 is associated with a spectrum of clinical symptoms, which may be a reflection of impaired expression and function of Munc18-2 also in cells other than cytotoxic lymphocytes. Mutations in STXBP2 should thus also be considered in patients with clinical manifestations other than those typically associated with HLH.
 ...
PMID:Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. 2055 10


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>