Epidemiology, Prognosis, and Risk Factors in Mastocytosis

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Key points

  • The prevalence of overt mastocytosis has been estimated to be about 10 cases per 100,000 inhabitants. That of monoclonal mast cell activation syndrome and of idiopathic mast cell activation syndrome remains unknown.

  • Adult patients with mastocytosis predominantly exhibit indolent systemic mastocytosis (ISM) and in children cutaneous mastocytosis (CM) is assumed.

  • Regression of mastocytosis in children is common and chronic persistence of skin mastocytosis in adults is typical.

  • Evolution of ISM into

Prevalence of Mastocytosis

Mastocytosis is considered to be an orphan disease (affecting <200,000 people in the United States). There are no epidemiologic studies to define the precise incidence, point prevalence, or cumulative prevalence of mastocytosis in the general population (Box 1). Because of its rarity many doctors were unfamiliar with this disease and did not recognize it. Thus, until recently, the number of recognized patients per single center was not sufficient and not reliable to estimate incidence and

Prevalence of Systemic Disease in Patients with Mastocytosis

The prevalence of systemic disease in patients with mastocytosis depends greatly on the definition of SM, which has been changed in 2001, on the associated development of more sensitive methods for detecting mast cells and clonality (eg, use of the tryptase stain to highlight mast cells), and on the experience of physicians. The extracutaneous tissue that shows the highest numbers of mast cell in systemic involvement and that is still easily available is the bone marrow.20 Whereas in older

Prognosis for Resolution of CM in Children

Data on the natural history of childhood-onset mastocytosis come mostly from studies where the analysis depended on retrospective chart reviews and reporting on skin examinations.26 Although it often has been stated that resolution of the disease would happen in more than 50% of patients, there are only a small number of studies on which this conclusion was based. A recent study attempted to analyze patients with a longer duration of follow-up and re-examined 15 individuals who had been

Risk Factors for More Severe Clinical Disease

In a prospective study of 48 adults and 19 children with MPCM the extent and density of cutaneous lesions were compared with symptomatology, tryptase levels, and bone marrow pathology.32 In children, possibly because of a low number of included patients, symptoms, and available bone marrow pathologies, the extent of cutaneous disease was not associated with systemic involvement or symptomatology. There was a borderline correlation between the extent of cutaneous disease and serum tryptase

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