Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013395 (dyspepsia)
 4,879 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Indolent systemic mastocytosis (SM) patients have a varied clinical presentation, ranging from predominantly cutaneous symptoms to recurrent systemic symptoms (eg, flushing, palpitations, dyspepsia, diarrhea, bone pain) that can be severe and potentially life threatening (anaphylaxis). Mastocytosis patients without skin involvement pose a diagnostic challenge; a high index of suspicion is needed in those with mast cell-degranulation symptoms, including anaphylaxis following Hymenoptera stings or other triggers. Modern-era molecular and flow-cytometric diagnostic methods are very sensitive and can detect minimal involvement of bone marrow with atypical/clonal mast cells; in some cases, full diagnostic criteria for SM are not fulfilled. An important aspect of treatment is avoidance of known symptom triggers; other treatment principles include a stepwise escalation of antimediator therapies and consideration of cytoreductive therapies for those with treatment-refractory symptoms. The perioperative management of mastocytosis patients is nontrivial; a multidisciplinary preoperative assessment, adequate premedications, and close intra- and postoperative monitoring are critical. Smoldering mastocytosis is a variant with high systemic mast cell burden. While its clinical course can be variable, there is greater potential need for cytoreductive therapies (eg, interferon-alpha, cladribine) in this setting. A systematic approach to the diagnosis and treatment of indolent SM using a case-based approach of representative clinical scenarios is presented here.
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PMID:How I treat patients with indolent and smoldering mastocytosis (rare conditions but difficult to manage). 2342 50

Mastocytosis is a rare process involving the activation and accumulation of clonal mast cells categorized by cutaneous or systemic involvement. Although the diagnosis of cutaneous disease can be straightforward and confirmed via skin biopsy, systemic disease mimics more common disease processes making diagnosis a challenge. The widespread physiologic distribution of mast cells causes a variety of symptoms with aberrant expression including fatigue, headache, depression, dyspnea, dyspepsia, nausea, and abdominal pain. We present a patient with a three-year history of multiple, non-specific complaints prompting extensive evaluation at significant financial and emotional cost without therapeutic relief. This case presentation illustrates some of the pitfalls of evaluation and management of mastocytosis when symptoms are treated in isolation. Ultimately, our patient was diagnosed with indolent systemic mastocytosis (ISM), which has a good overall prognosis but no curative treatment. Providers must maintain a high index of suspicion for mastocytosis in order to make the diagnosis and facilitate appropriate treatment and screening.
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PMID:Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review. 2943 87