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)

Myelofibrosis (MF) is a rare chronic BCR-ABL1 (breakpoint cluster region-Abelson murine leukemia viral oncogene homologue 1)-negative myeloproliferative neoplasm characterized by progressive bone marrow fibrosis, inefficient hematopoiesis, and shortened survival. The clinical manifestations of MF include splenomegaly, consequent to extramedullary hematopoiesis, cytopenias, and an array of potentially debilitating abdominal and constitutional symptoms. Dysregulated Janus kinase (JAK)-signal transducer and activator of transcription signaling underlies secondary disease-associated effects in MF, such as myeloproliferation, bone marrow fibrosis, constitutional symptoms, and cachexia. Common fatal complications of MF include transformation to acute leukemia, thrombohemorrhagic events, organ failure, and infections. Potential complications from hepatosplenomegaly include portal hypertension and variceal bleeding, whereas extramedullary hematopoiesis outside the spleen and liver - depending on the affected organ - may result in intracranial hypertension, spinal cord compression, pulmonary hypertension, pleural effusions, lymphadenopathy, skin lesions, and/or exacerbation of abdominal symptoms. Although allogeneic stem cell transplantation is the only potentially curative therapy, it is suitable for few patients. The JAK1/JAK2 inhibitor ruxolitinib is effective in improving splenomegaly, MF-related symptoms, and quality-of-life measures. Emerging evidence that ruxolitinib may be associated with a survival benefit in intermediate- or high-risk MF suggests the possibility of a disease-modifying effect. Consequently, ruxolitinib could provide a treatment backbone to which other (conventional and novel) therapies may be added for the prevention and effective management of specific MF-associated complications.
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PMID:Myelofibrosis-associated complications: pathogenesis, clinical manifestations, and effects on outcomes. 2450 43

Haemophagocytic lymphohistiocytosis (HLH) is a rare syndrome of pathological immune activation characterised by extreme inflammation. We present a case of a young Filipino man consulting for non-specific symptoms of fever, body malaise and weight loss. Prominent physical examination findings included gross pallor, cachexia and hepatosplenomegaly. Laboratory results revealed pancytopaenia, while bone marrow examination revealed haemophagocytosis. Further workup for HLH showed hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinaemia (fulfilling 6 of 8 diagnostic criteria). Exhaustive serological and haematological examinations showed chronic hepatitis B virus infection and past evidence of Epstein-Barr virus infection as possible triggers. The patient was started on antiviral therapy, high-dose steroids and chemotherapy. He initially improved, but eventually succumbed to severe fungal sepsis and pulmonary haemorrhage. An autopsy confirmed the diagnosis of HLH.
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PMID:Virus-associated haemophagocytic lymphohistiocytosis in a young Filipino man. 2728 96

In the last classification of the World Health Organization (WHO) 2016, T-cell large granular lymphocyte (LGL) leukemia is a type of mature natural killer T (NKT) cell lymphatic hematologic disease. T-LGL leukemia is characterized by CD3+ T-cell phenotype and TCR gene rearrangement (T lymphocyte receptor). It is a rare disease, mainly affecting people living in the Western world. We report the case of a 60-year old Moroccan patient presenting with 1-month history of generalized jaundice with diffuse petechiae and impaired general condition. Initial clinical examination showed ascites of average abundance and hepatosplenomegaly; paraclinical examination objectified hepatocellular failure with neutropenia and thrombocytopenia. The diagnosis of T-LGL was retained based on cytological and immunophenotypic study of bone marrow blood as well as on the detection of TCR rearrangement using molecular test. The patient received cyclophosphamide associated with symptomatic treatment. The patient died within three months of the diagnosis due to septic shock with cachexia. T-LGL often has an indolent behavior and initial clinical status at diagnosis is generally moderate, with progressive onset but that was not so for our patient. Hepatocellular failure exceptionally results in T-cell large granular lymphocyte (LGL) leukemia.
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PMID:[Hepatocellular failure revealing T-cell large granular lymphocyte leukemia: Morocco case study and literature review]. 3193 60


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