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Indolent Systemic Mastocytosis


Presentation

  • CONCLUSIONS: In suspected patients without UP, the ISM risk is very low (if present at all) if tryptase is 2012 John Wiley & Sons A/S.[ncbi.nlm.nih.gov]
  • After 9 years of controlled disease, the patient presented with increasingly severe breakthrough pruritus and new skin lesions on the head and neck.[ncbi.nlm.nih.gov]
  • Twelve patients (57%) were resting while undergoing VIT; 9 (75%) presented local reactions and 3 (25%) systemic reactions, 1 of which required intubation.[ncbi.nlm.nih.gov]
  • Author information 1 Department of Pathology, Odense University Hospital, Odense, Denmark. thomas.kristensen@ouh.regionsyddanmark.dk Abstract It is presently accepted that the KIT D816V mutation is detectable in tissues with neoplastic mast cells in most[ncbi.nlm.nih.gov]
  • The presentation of this case is intended to contribute to the knowledge of mastocytosis and Kounis syndrome at the time of diagnostic workup during intraoperative anaphylaxis or myocardial ischemia.[ncbi.nlm.nih.gov]
Sneezing
  • Mast cells produce histamine, a chemical that can cause itching, sneezing, congestion, swelling, and wheezing. About mastocytosis Mastocytosis describes a group of disorders that are caused by too many mast cells in the body.[cancer.net]
Diarrhea
  • The most common side effects on the trial (among the total population of 116) were nausea, vomiting, diarrhea and peripheral edema.[curetoday.com]
  • Some of those patients may have extensive gastrointestinal tract infiltration resulting in low albumin, malabsorption, weight loss, and extensive diarrhea.[onclive.com]
  • Frequent serious adverse events—including diarrhea, rash, urticaria, and asthenia—occurred more often in the experimental group during the treatment period than in the placebo group.[pharmacist.com]
  • […] or Fatigue Impact Scale 75 By Week 24, masitinib was was associated with a cumulative response of 18.7% in the primary endpoint vs. 7.4% for placebo (difference 11.3%, odds ratio 3.6, 95% CI: 1.2-10.8; P 0.0076) Most frequent serious adverse events: diarrhea[renalandurologynews.com]
Vomiting
  • The most common side effects on the trial (among the total population of 116) were nausea, vomiting, diarrhea and peripheral edema.[curetoday.com]
  • Symptoms of indolent systemic mastocytosis (ISM) include pruritus, flushing, palpitations, vomiting, and anaphylaxis in severe instances.[mdedge.com]
  • A person with this type of mastocytosis may also experience nausea, vomiting, and diarrhea. Solitary mastocytoma. This type of mastocytosis is more common in infants and children than in adults.[cancer.net]
  • The excess release of mediators can cause clinical features such as pruritus, flushing, nausea, vomiting, diarrhoea, abdominal pain, vascular instability and anaphylaxis.[patient.info]
  • During an episode you may have: skin reactions – such as itching and flushing gut symptoms – such as vomiting and diarrhoea muscle and joint pain mood changes, headaches and episodes of tiredness (fatigue) There are three subtypes of systemic mastocytosis[nhs.uk]
Increased Appetite
  • I was finally diagnosed just 2 months ago and have just begun treatment with Pepcid, Allegra, Gastrocrom and Marinol (to increase appetite...I've lost 20 pounds in the last 9 months and am way too skinny). 1.[inspire.com]
Hypotension
  • The most telling features were hypotension, tachycardia, and the rash (urticaria pigmentosa).[ncbi.nlm.nih.gov]
  • We report on a 33-year-old male patient in whom severe hypotensive episodes occurred after contact with ants or yellow jackets.[ncbi.nlm.nih.gov]
  • […] disease result from skin involvement, mast cell mediator release and massive mast cell infiltration, as found in aggressive variants of the disease symptoms of mast cell degranulation may vary from pruritus and flushing to anaphylaxis with profound hypotension[gpnotebook.co.uk]
  • These include flushing, headache, palpitations, abdominal pain, diarrhoea, dyspnoea, wheezing, syncope, hypotensive shock and death. Early onset of blisters worsens the prognosis.[patient.info]
  • These are similar in nature to severe allergic reactions and may involve decreased blood pressure (hypotension), increased heart rate and loss of consciousness.[rarediseases.org]
Tachycardia
  • The most telling features were hypotension, tachycardia, and the rash (urticaria pigmentosa).[ncbi.nlm.nih.gov]
  • History: A 45 year old man presents with occasional episodes of sweating, diarrhea, tachycardia, flushing, and syncope over previous four years. Laboratory data shows an increased tryptase level. A bone marrow biopsy was performed.[mplnet.com]
  • Flushing, tachycardia, dyspepsia and diarrhea may occur. Narcotics and several anesthetic agents are also powerful mast cell activators.[cancertherapyadvisor.com]
Low Back Pain
  • CASE REPORT A 79-year-old Caucasian woman with osteoporosis was evaluated at the Emergency Department because of complaints of low back pain.[ncbi.nlm.nih.gov]
  • Low back pain. PALAVRAS-CHAVE: Mastocitose. Transtornos mieloproliferativos. Doenças musculosqueléticas. Osteoporose. Dor lombar.[healthdocbox.com]
Flushing
  • Symptoms Symptoms of systemic mastocytosis include facial flushing, itching, or belly cramps. Other symptoms include feeling lightheaded or losing consciousness.[mayoclinic.org]
  • The excess release of mediators can cause clinical features such as pruritus, flushing, nausea, vomiting, diarrhoea, abdominal pain, vascular instability and anaphylaxis.[patient.info]
  • […] marrow, liver, spleen, and lymph nodes (1) the clinical presentation of mastocytosis is diverse, and many patients do not fit the classical description - namely, a variably long history of urticaria pigmentosa (UP), followed by the insidious onset of flushing[gpnotebook.co.uk]
  • The primary endpoint was cumulative response ( 75% improvement from baseline within weeks 8-24) in at least one severe baseline symptom from the following: pruritus score of 9 or more, eight or more flushes per week, Hamilton Rating Scale for Depression[ncbi.nlm.nih.gov]
  • She denied any symptoms of flushing, diarrhea, syncopal episodes, or lightheadedness.[mdedge.com]
Recurrent Headache
  • The clinical symptoms a patient experiences when suffering from the condition are due to the mass of mast cells present in the tissue concerned and include recurrent headaches, itching, flushing, palpitations and fainting, gastric ulcer disease and lower[netdoctor.co.uk]

Workup

  • The presentation of this case is intended to contribute to the knowledge of mastocytosis and Kounis syndrome at the time of diagnostic workup during intraoperative anaphylaxis or myocardial ischemia.[ncbi.nlm.nih.gov]
  • Further workup included bone marrow biopsy, which demonstrated dense mastocyte infiltrates without evidence of functional impairment, and elevated serum tryptase levels.[ncbi.nlm.nih.gov]
  • Subsequent workup demonstrated IgG kappa monoclonal protein in serum and urine. A bone marrow biopsy revealed neoplastic mast cells involving bone marrow without evidence of clonal myeloid or lymphoid proliferation.[academic.oup.com]
  • Eosinophilia is a common bone marrow histology finding (see Workup, Histologic Findings). Hypocellular bone marrow and myelofibrosis can be observed in late stages of systemic mastocytosis (systemic mast cell disease).[emedicine.medscape.com]
Pericardial Effusion

Treatment

  • […] to a non-treatment-related cause.[ncbi.nlm.nih.gov]
  • Our work provides evidence that NB-UVB phototherapy is useful for the treatment of the cutaneous symptoms and pruritus in ISM.[ncbi.nlm.nih.gov]
  • Its role in the treatment of indolent and cutaneous mastocytosis is less well established. However, the authors have demonstrated the usefulness of imatinib in the treatment of c-KIT-negative indolent SM with extensive cutaneous involvement.[ncbi.nlm.nih.gov]
  • Clinical safety assessments will be performed in all patients at the start and end of each treatment period.[clinicaltrials.gov]
  • A French-led investigation evaluated masitinib as a treatment for highly symptomatic patients with indolent system mastocytosis who did not benefit from optimal therapy.[pharmacist.com]

Prognosis

  • Systemic mastocytosis has extracutaneous organ involvement with variable symptomatology and prognosis. Clinical manifestations are secondary to mediator release or direct organ infiltration of mast cells.[ncbi.nlm.nih.gov]
  • Despite the favourable prognosis, lifelong dermatological control is needed, during which the average symptomatic therapy does not always seem adequate.[ncbi.nlm.nih.gov]
  • The current review provides an update on prognosis and treatment of systemic mastocytosis, including investigational drug therapy.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: Monitoring of sBT in ISM patients is closely associated with poor prognosis disease features as well as with disease progression, pointing out the need for a closer follow-up in ISM patients with progressively increasing sBT values.[ncbi.nlm.nih.gov]
  • They usually grow out of it by the time they reach adolescence, and they are not candidates for cytoreductive treatment options because they have good prognosis. The other major category is systemic mastocytosis.[onclive.com]

Etiology

  • Therefore, the etiological diagnosis remains presumptive until skin testing is performed.[anesthesiology.pubs.asahq.org]
  • Extracutaneous mastocytoma Mast cell sarcoma (MSS) Epidemiology Uncommon Affects males more than females Bimodal age; affects pediatric age groups and adults Bone marrow and bone involvement are present in up to 90% of SM cases, followed by other organs Etiology[pathologyoutlines.com]
  • It should be considered in the differential diagnosis for a number of clinical conditions, such as unexplained anaphylaxis, osteoporosis of unknown etiology, etc.[haematologica.org]
  • It was decided to admit the patient to the Internal Medicine ward in order to investigate the etiology of these pain complaints, among which the main possibilities were: bone metastatic disease of unknown primary origin, multiple myeloma, Paget s disease[healthdocbox.com]

Epidemiology

  • Mastocytosis (cutaneous and systemic): Epidemiology, pathogenesis, and clinical manifestations. . Accessed Feb. 19, 2017. AskMayoExpert. Systemic mastocytosis. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2016. Brown AY.[mayoclinic.org]
  • Indolent systemic mastocytosis (ISM) Systemic mastocytosis with an associated clonal hematopoietic non mast cell lineage disease (SM-AHNMD) Aggressive systemic mastocytosis (ASM) Mast cell leukemia (MCL) Extracutaneous mastocytoma Mast cell sarcoma (MSS) Epidemiology[pathologyoutlines.com]
  • A mutation of the oncogene C-KIT D816V is found in many (but not all) cases. [ 9 ] Epidemiology [ 10 ] This is a rare and heterogeneous group of disorders, of which urticaria pigmentosa is the most common manifestation.[patient.info]
  • International Epidemiologic data on the incidence of systemic mastocytosis are lacking. Some studies in Great Britain showed two cases per year from a study population of 300,000.[emedicine.medscape.com]
  • The prognosis for patients with advanced systemic mastocytosis differs depending on type of disease with MCL being the most serious form with short survival. [17] Epidemiology [ edit ] The true incidence and prevalence of mastocytosis is unknown, but[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology of mastocytosis. IL-1 interleukin-1; IL-6 interleukin-6; LTC4 leukotriene C4; PGD2 prostaglandin D2; TNF-α tumor necrosis factor-α. Fig. 1. Pathophysiology of mastocytosis.[anesthesiology.pubs.asahq.org]
  • Pathophysiology Gain-of-function somatic mutations in the KIT tyrosine kinase domain in mast cells are considered necessary, but not sufficient alterations to explain all of the clinical manifestations of SM.[cancertherapyadvisor.com]
  • Increased stomach acid production causing peptic ulcers (increased stimulation of enterochromaffin cell and direct histamine stimulation on parietal cell ) Malabsorption (due to inactivation of pancreatic enzymes by increased acid) [5] Hepatosplenomegaly Pathophysiology[en.wikipedia.org]
  • However, the pathophysiologic link between SM and lymphoproliferative disorders remains unclear.[academic.oup.com]
  • Pathophysiology Systemic mastocytosis (systemic mast cell disease) is characterized by mast cell infiltration of extracutaneous organs.[emedicine.medscape.com]

Prevention

  • The high occurrence of FFxs in patients with ISM underlines the importance of optimizing bone quality and early start of therapeutic prevention in patients at risk. Copyright 2014 American Academy of Allergy, Asthma & Immunology.[ncbi.nlm.nih.gov]
  • […] under supervision. [ 23 ] Bone pain Oral sodium cromoglicate may help. [ 21 ] Osteoporosis prevention/treatment - calcium, vitamin D, and bisphosphonates. [ 11 ] Drugs to avoid [ 24 ] Beta-blockers are contra-indicated in patients with systemic mastocytosis[patient.info]
  • Mast cell stabilizers help prevent mast cells from releasing their chemical contents. Cromoglicic acid is the only medicine specifically approved by the FDA for the treatment of mastocytosis.[en.wikipedia.org]
  • Steroid cream prevents mast cells releasing histamine and triggering inflammation inside the skin.[your.md]
  • For example, the following medications may used to treat various symptoms associated with SM: [2] [6] Antihistamines to treat or prevent skin and gastrointestinal symptoms Proton pump inhibitors to treat increased stomach acid Epinephrine to treat anaphylaxis[rarediseases.info.nih.gov]

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