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)

Whipple's disease is a rare multisystemic infectious disease that can mimic lymphoproliferative disorders and must be considered in the differential diagnosis of febrile syndromes. The authors describe the case of a 55-year-old man who presented to the Emergency Department with dyspnoea and abdominal pain. He had a 2-month history of fever, night sweats, asthenia and unintentional weight loss. Upon clinical examination he had bilateral inguinal lymphadenopathy. Blood tests showed iron-deficit anaemia and high C-reactive protein. Abdominal ultrasound showed mesenteric and iliac adenopathies and hepatosplenomegaly. The patient was admitted to the Internal Medicine department for additional testing. Flow cytometry analysis of peripheral blood showed CD5-positive monoclonal B-cell expansion. Excisional biopsy of a retroperitoneal adenopathy guided by computed tomography showed periodic acid-Schiff-positive bacilli inside the macrophages, further identified as Tropheryma whipplei through polymerase chain reaction. Bone marrow biopsy showed a scarce positive CD5 lymphoid population and haematopoietic alterations related to infection. The patient started treatment for T. whipplei with complete symptom resolution. This is the first case describing the simultaneous diagnosis of Whipple's disease and chronic lymphocytic leukaemia in a patient with constitutional symptoms, fever and lymphadenopathies.
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PMID:Whipple's Disease as the First Manifestation of Chronic Lymphocytic Leukaemia. 3193 77

Extranodal presentation in lymphoproliferative disorders is a well-recognised entity. However, musculoskeletal involvement is extremely rare. We describe the case of a 64-year-old farmer who presented to us with constitutional symptoms of fever, loss of weight and loss of appetite for 2 years and physical examination revealing generalised lymphadenopathy with hepatosplenomegaly. Biopsy of an axillary lymph node showed mixed cellularity variant of Hodgkin's lymphoma. CT of the thorax and abdomen revealed a collection in the right psoas muscle. Guided biopsy of the psoas deposit was suggestive of Hodgkin's lymphoma. PCR and cultures for Mycobacterium tuberculosis tested negative. Here we describe a rare presentation of Hodgkin's lymphoma with intramuscular involvement.
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PMID:Intramuscular lymphoma: uncommon presentation of Hodgkin's disease. 3284 68

Lymphoproliferative disease (LPD) is a comprehensive concept covering diseases ranging from transient lymphadenopathy to lymphoma. LPD is frequently associated with Epstein-Barr virus (EBV) infections and tends to occur in patients with inborn errors of immunity (IEI) and in patients after organ transplantation. Most patients with severe combined immunodeficiency or X-linked lymphoproliferative disease develop LPD. Autoimmune lymphoproliferative syndrome (ALPS), a typical LPD disease, is caused by germline mutations in FAS, FASL, CASP10, CASP8 and FADD, which are involved in the apoptosis pathway. ALPS patients develop autoimmune diseases and LPDs such as hepatosplenomegaly and lymphadenopathy. On the other hand, RAS-associated ALPS-like syndrome and CTLA4 haploinsufficiency also belong to ALPS-associated diseases. EBV-associated LPD is a clinical condition that should be noted in patients with IEI. Patients with genetic defects in SH2D1A, XIAP, CD27, CD70, CD137, ITK, CTPS, RASGRP1, and MAGT1 are prone to EBV-associated LPD.
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PMID:[Lymphoproliferative disorders and inborn errors of immunity]. 3316 37

Hydroa vacciniforme (HV) is a rare form of photosensitivity disorder in children and is frequently associated with Epstein-Barr virus (EBV) infection, whereas HV-like lymphoproliferative disorders (HVLPD) describe a spectrum of EBV-associated T-cell or natural killer (NK)-cell lymphoproliferations with HV-like cutaneous manifestations, including EBV-positive HV, atypical HV, and HV-like lymphoma. Classic HV occurs in childhood with papulovesicules on sun-exposed areas, which is usually induced by sunlight and ultraviolet irradiation, and mostly resolves by early adult life. Unlike classic HV, atypical or severe HV manifests itself as recurrent papulovesicular eruptions in sun-exposed and sun-protected areas associated occasionally with facial edema, fever, lymphadenopathy, oculomucosal lesions, gastrointestinal involvement, and hepatosplenomegaly. Notably, atypical or severe HV may progress to EBV-associated systemic T-cell or natural killer (NK)-cell lymphoma after a chronic course. Although rare in the United States and Europe, atypical or severe HV and HV-like lymphoma are predominantly reported in children from Asia and Latin America with high EBV DNA levels, low numbers of NK cells, and T cell clones in the blood. In comparison with the conservative treatment used for patients with classic HV, systemic therapy such as immunomodulatory agents is recommended as the first-line therapy for patients with atypical or severe HV. This review aims to provide an integrated overview of current evidence and knowledge of HV and HVLPD to elucidate the pathophysiology, practical issues, environmental factors, and the impact of EBV infection.
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PMID:Hydroa Vacciniforme and Hydroa Vacciniforme-Like Lymphoproliferative Disorder: A Spectrum of Disease Phenotypes Associated with Ultraviolet Irradiation and Chronic Epstein-Barr Virus Infection. 3329 36


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