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)

With the introduction of vaccination for haemophilus influenza, the epidemiology of epiglottitis in children has changed. Classic childhood epiglottitis is now rare, and unusual forms of the disease may be seen. Nectrotizing epiglottitis is an extremely rare form of epiglottitis. Only four cases of nectrotizing epiglottitis have been previously reported, and all cases were in immunocompromised adult patients. Hemophagocytic lymphohistiocytosis is a rare condition characterized by high fevers, hepatosplenomegaly, and cytopenias caused by an abnormal proliferation and activation of macrophages. We report the first case of a previously healthy 5-year-old male presenting with acute onset of airway distress and pancytopenia. Subsequent airway evaluation led to the diagnosis of nectrotizing epiglottitis, and he was simultaneously diagnosed with infection-induced hemophagocytic lymphohistiocytosis. The patient recovered with intubation and antibiotics. Follow-up direct laryngoscopy revealed an epiglottis remnant with approximately 50% loss of epiglottic tissue. The presentation and pathophysiology of this unusual manifestation of epiglottitis and hemophagocytic lymphohistiocytosis will be reviewed. In the post-haemophilus influenze vaccination era, the pediatric otolaryngologist must be familiar with unusual forms of epiglottitis and its associated manifestations.
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PMID:Necrotizing epiglottitis and hemophagocytic lymphohistiocytosis. 1906 9

Asparaginyl endopeptidase (AEP or legumain) is a lysosomal cysteine protease that cleaves protein substrates on the C-terminal side of asparagine. AEP plays a pivotal role in the endosome/lysosomal degradation system and is implicated in antigen processing. The processing of the lysosomal proteases cathepsins in kidney is completely defective in AEP-deficient mice with accumulation of macromolecules in the lysosomes, which is typically seen in lysosomal disorders. Here we show that mutant mice lacking AEP develop fever, cytopenia, hepatosplenomegaly, and hemophagocytosis, which are primary pathological manifestations of hemophagocytic syndrome/hemophagocytic lymphohistiocytosis (HLH). Moreover, AEP deficiency provokes extramedullary hematopoiesis in the spleen and abnormally enlarged histiocytes with ingested red blood cells (RBCs) in bone marrow. Interestingly, RBCs from AEP-null mice are defective in plasma membrane components. Further, AEP-null mice display lower natural killer cell activity, but none of the major cytokines is substantially abnormal. These results indicate that AEP might be a previously unrecognized component in HLH pathophysiology.
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PMID:Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome. 1910 91

Hemophagocytic syndrome (HPS) presents with signs of persistent remittent fever, hepatosplenomegaly, pancytopenia, hepatic dysfunction, and disseminated intravascular coagulation because of hypercytokinemia caused by activated T lymphocytes and macrophages. In recent years leukocytapheresis using a leukocyte removal filter (known as lymphocytapheresis, LCAP) has been applied to the treatment of various autoimmune diseases. The removal of activated monocytes during LCAP treatment appears useful for hypercytokinemia. We experienced a 32-year-old Japanese man with HPS with elevated tissue factor-enriched monocyte-derived microparticles (MDMPs) and pro-inflammatory cytokines/chemokines. Improvements in the level of MDMPs and hypercytokinemia were observed after LCAP treatment. LCAP treatment performed for HPS can be considered a therapeutic strategy for patients with a risk of fetal hemorrhage.
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PMID:Therapeutic efficacy of leukocytapheresis for procoagulant microparticles during hemophagocytic syndrome. 1912 90

We report the clinical course of a child with precursor B-cell acute lymphoblastic leukemia who developed fever, hepatosplenomegaly, and refractory thrombocytopenia after initiation of chemotherapy. Bone marrow aspiration on Day 8 of induction showed new onset of hemophagocytosis and he met clinical, laboratory, and histopathologic criteria for hemophagocytic lymphohistiocytosis. His symptoms improved significantly after an increased dosage of steroids.
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PMID:Hemophagocytic lymphohistiocytosis onset during induction therapy for precursor B-cell acute lymphoblastic leukemia. 1913 91

Hemophagocytic lymphohistiocytosis (HLH), presenting with fever, cytopenia, liver dysfunction, hepatosplenomegaly, hypertriglyceridemia, and hyperferritinemia, is associated with various etiologies, including infections, collagen vascular diseases, and malignancies. The present report describes a 28-year-old woman who developed HLH combined with autoimmune hemolytic anemia (AIHA) at 23 weeks of gestation. Without response to corticosteroid, the patient completely recovered from both HLH and AIHA after termination of the pregnancy. Pregnancy-induced immune dysregulation and cytokine overproduction in genetically susceptible women may play critical roles in HLH. The differential diagnosis of pregnant women with fever and cytopenia should include HLH. Pregnancy termination should be considered when pregnancy-induced HLH is refractory to medical treatment.
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PMID:Pregnancy-induced hemophagocytic lymphohistiocytosis combined with autoimmune hemolytic anemia. 1929 25

Hemophagocytic syndrome is rare syndrome characterized by unregulated proliferation and activation of macrophages and phagocytosis of the platelet, erythrocytes, lymphocytes and their hematopoietic precursors in the bone marrow, resulting in cytopenias. It is associated with stimuli-like infections, malignancies and immunocompromised states. We present here a case of generalized lymphadenopathy, hepatosplenomegaly and progressive cytopenias in a 17-year-old male.
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PMID:Hemophagocytic syndrome: a cause for fatal outcome in tuberculosis. 1933 34

Hemophagocytic syndrome (HPs) is a rare but distinct condition caused by inappropriate and dysregulated activation of the immune system. HPs is characterized by febrile hepatosplenomegaly, pancytopenia, hypofibrinemia and liver dysfunction; these changes are associated with the infiltration of bone marrow and organs by nonmalignant macrophages that phagocytose blood cells. Primary HPs is linked to inherited immune dysregulation, whereas secondary HPs tends to be triggered by an infectious or neoplastic disease. Multiorgan failure can complicate this life-threatening condition and renal involvement has frequently been reported; however, precise descriptions of the renal manifestations of HPs are lacking. Acute kidney injury due to tubular necrosis is the most common renal presentation, but nephrotic syndrome can also occur. HPs can be observed in immunocompromised patients and nephrologists must be aware that this condition can occur in renal transplant recipients. Mortality in patients with HPs can be as high as 50%. Despite considerable advances in the treatment of familial HPs, no specific therapy has demonstrated a consistent capacity to control reactive HPs when combined with suppression of the triggering factor. This review summarizes the presentation, causes, pathophysiology and renal features of HPs for the benefit of the practicing nephrologist.
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PMID:What nephrologists need to know about hemophagocytic syndrome. 1942 3

Hemophagocytic syndrome is a clinical condition characterized by the infiltration of the bone marrow and reticuloendothelial system by macrophages and activated histiocytes, leading to uncontrolled phagocytosis of platelets, erythrocytes, lymphocytes and precursor cells. It is a severe inflammatory and aggressive condition, characterized by high fever, hepatosplenomegaly, lymphadenopathy and cytopenia, and it may lead to organ dysfunction. This syndrome is classified as familial or acquired; the latter is more frequent and is associated with diverse conditions, such as infections, malignancies and rheumatic diseases. We report a case of HLH associated with cytomegalovirus infection in a patient with acquired-immunodeficiency syndrome and Burkitt's lymphoma.
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PMID:Hemophagocytic syndrome associated with cytomegalovirus infection in a severely immunocompromised AIDS patient: case report. 1957 35

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome in which an exaggerated but ineffective immune response leads to severe hyperinflammation. Key players in HLH are activated lymphocytes and histiocytes which infiltrate all organs and secrete large amounts of cytokines. Cardinal symptoms are prolonged fever, hepatosplenomegaly, cytopenias, and hemophagocytosis. Biochemical markers include elevated ferritin, triglycerides, and low fibrinogen. HLH occurs on the basis of various inherited and acquired immune defects. Impaired function of natural killer cells and cytotoxic T cells is shared by all forms of HLH. Nearly all genetic defects identified in inherited cases of HLH are either mutations in the perforin gene or in genes important for the exocytosis of cytotoxic granules. Cytotoxic granules contain perforin and granzymes which induce apoptosis upon entering the target cell. Additionally perforin is important for the down-regulation of the immune response. Acquired forms of HLH are found in association with infectious agents, in patients with autoimmune diseases, in malignant diseases, and in patients receiving immune suppression or after organ transplantation. - HLH is still difficult to diagnose and may be overlooked since initially it may masquerade as a normal infection. HLH should be considered when symptoms are more pronounced than usual and in case of progression. Suppression of the severe hyperinflammation can be achieved with immunosuppressive and immunomodulatory agents and cytostatic drugs. Patients with genetic HLH have to undergo stem cell transplantation for cure.
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PMID:Hemophagocytic lymphohistiocytosis: when the immune system runs amok. 1970 89

Hemophagocytic lymphohistiocytosis (HLH), a rare disease, results in pathological findings secondary to an abnormal proliferation of activated lymphocytes and histiocytes (tissue macrophages) and is lethal unless identified and adequately treated. Clinical features of HLH include fever, hepatosplenomegaly, cytopenias, hypertriglyceridemia, hypofibrinogenemia, elevated blood levels of ferritin, lymphadenopathy, skin rash, jaundice, and edema. Often, the symptoms of HLH are misinterpreted as infection, resulting in inadequate treatment and death. Several case studies of premature neonates with HLH have recently been published. Therapeutic guidelines for HLH exist and, when identified, HLH in the premature infant can be successfully treated resulting in resolution of symptoms.
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PMID:Hemophagocytic lymphohistiocytosis in the premature neonate. 2001 Jan 42


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