Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Haemopathologic changes were studied in 19 patients (13 male, six female, age 33-85 years, mean 56 years) with relapsing polychondritis (RP). Anaemia was found in eight, thrombocytopenia in two and splenomegaly in three patients. A total of 17 bone marrow biopsies were obtained from seven individuals. Bone marrow evaluation revealed myelodysplastic syndromes (MDS) with marked trilineage hyperplasia and dysplasia in three cases. Since an excess of myeloblasts or an increase of CD34 positive progenitor cells was not seen, the disorders were designated as 'refractory anaemia' or with regard to the dysplastic megakaryopoiesis 'MDS, unclassifiable'. Two of the three patients died after 10 and 55 months of follow-up due to infectious complications. In a further patient, bone marrow analysis repeatedly showed an unexplained granulopoietic hyperplasia, which, however, was not dysplastic enough to allow a diagnosis of MDS. The remaining patients had clearly reactive changes. Our findings support the notion that RP is a heterogenous disorder and suggest that RP may at times represent a paraneoplastic phenomenon of an underlying MDS. Since HLA typing revealed a significantly increased frequency of the antigen DR4 (10/17 patients positive = 59%), we hypothesize that immunological imbalances due to the MDS in conjunction with a specific immunogenetic background may play key roles in the pathogenesis of RP in these patients.
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PMID:Bone marrow pathology in relapsing polychondritis: high frequency of myelodysplastic syndromes. 777 18

BACKGROUND This case report describes rare disease entities with possible associations that include relapsing polychondritis, a rare disease with systemic manifestations characterized by bouts of inflammation in hyaline cartilage in multiple body sites, and hemophagocytic lymphohistiocytosis (HLH), another potentially life-threatening condition that occurs due to erratic activation of the immune system accompanied by pancytopenia. Both diseases constitute a real challenge to diagnose and treat. These entities, their associations, and treatment protocols and prognosis for them are highlighted. CASE REPORT A 16-year-old female presented with features and complications of both relapsing polychondritis (RP) and HLH including costochondritis, fever, splenomegaly, thrombocytopenia, and anemia. After admission to the intensive care unit, symptomatic management included paracetamol, intravenous fluids, prednisolone 60 mg orally, intravenous immune globlulin, and warfarin. Unfortunately, the patient developed acute myelogenous leukemia (FAB AML M5b) after a period of remission and died due to sepsis and multiorgan failure. CONCLUSIONS HLH and RP are two rare diseases that can present together. Whether this malignant process (AML) is a cause or a result of these diseases is unknown. In the case presented here, the patient developed features of AML after a period of remission from RP and HLH. This case report may provide perspective on diagnosis and treatment for clinicians faced with similar patients.
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PMID:Hemophagocytic Lymphohistiocytosis and Relapsing Polychondritis with Acute Myelogenous Leukemia: Case Report and Review of the Literature. 3281 31