Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options.
Mast cell activation disease comprises disorders characterized by accumulation of genetically altered mast cells and/or abnormal release of these cells' mediators, affecting functions in potentially every organ system, often without causing abnormalities in routine laboratory or radiologic testing. In most cases of mast cell activation disease, diagnosis is possible by relatively non-invasive investigation. Effective therapy often consists simply of antihistamines and mast cell membrane-stabilising compounds supplemented with medications targeted at specific symptoms and complications. Mast cell activation disease is now appreciated to likely be considerably prevalent and thus should be considered routinely in the differential diagnosis of patients with chronic multisystem polymorbidity or patients in whom a definitively diagnosed major illness does not well account for the entirety of the patient's presentation.
Clinical impact of pregnancy in mastocytosis: a study of the Spanish Network on Mastocytosis (REMA) in 45 cases.
The impact of pregnancy on mast cell (MC)-related symptoms and newborn outcome in women with mastocytosis is not well described. We report a series of 30 women who had 45 pregnancies.
Patients completed a specific questionnaire concerning MC mediator release symptoms graded according to their frequency to detect clinical changes occurring during pregestation and pregnancy as well as postpartum. Information about the medications received during pregnancy and labor and about newborn medical complications was also recorded.
Worsening of MC-related symptoms during pregnancy was observed in 10 cases (22%); additionally, 1 woman developed skin lesions as a manifestation of indolent systemic mastocytosis (ISM) within the third trimester of pregnancy. Conversely, 15 cases (33%) experienced clinical improvement during pregnancy, with a complete resolution of pregestational symptoms in 7 cases. MC mediator release symptoms intrapartum were observed in 5 cases (11%) without any fatal outcome. Newborn medical complications (e.g. prematurity, low birth weight, and respiratory distress) were detected in 7 infants (16%) who were all successfully managed with conservative measures. One infant developed cutaneous mastocytosis several years after birth.
Mastocytosis has a heterogeneous clinical behavior during pregnancy: the profile of MC-related symptoms remained unchanged in half of the cases, while in the other half pregnant women experienced either an improvement or an exacerbation of the symptoms, with the manifestation of ISM during pregnancy in 1 case. To prevent potential life-threatening MC-related symptoms, adequate prophylactic antimediator therapy intrapartum should be systematically administered. The absence of both maternal and infant severe complications suggests that patients with nonaggressive categories of mastocytosis should not be advised against pregnancy.
Copyright © 2011 S. Karger AG, Basel.
The mechanism of osteoporosis with fracture secondary to mastocytosis is little known, and its treatment is poorly codified.
Ten patients with a mean age of 52.5 years with systemic mastocytosis and osteoporotic fractures were treated with interferon alpha 1.5 million U 3 times per week, combined with monthly pamidronate infusions (1 mg/kg) for 2 years, followed by pamidronate infusions every 3 months.
Before treatment, the mean number of vertebral fractures was 3.5, spinal T-score was -3±1, hip T-score was -1.9±0.7, serum C-terminal telopeptide was 357±258 pg/mL (N=80-800), bone alkaline phosphatase was 20±3.2 IU (N=8-25), and tryptase was 49±36 μg/mL (N<10). Interferon alpha was discontinued in 2 patients because of poor tolerance. Mean follow-up was 60 months. No patient developed a fracture under treatment. In the 8 patients treated with interferon alpha and pamidronate, the mean annual increase in spinal bone mineral density was 12.6%±5.6% and 1.93% in hip bone mineral density. Serum C-terminal telopeptide decreased by 66%, bone alkaline phosphatase decreased by 25%, and tryptase decreased by 34%. In the 2 patients treated with pamidronate alone, mean annual bone mineral density increase was 2.4%±0.1% at the spine and 0%±01% at the hip.
Osteoporosis secondary to mastocytosis mainly affects trabecular bone, and markers of bone remodeling are normal. Combined treatment with low doses of interferon and pamidronate markedly increased bone density.
Copyright © 2011 Elsevier Inc. All rights reserved.
Cutaneous mastocytosis (CM) is a typical presentation of mastocytosis in children. However, systemic mastocytosis may also occur in children.
We tried to characterize the clinical features of childhood-onset mastocytosis and estimate the value of the SCORMA (SCORing Mastocytosis) Index and serum tryptase levels as disease severity parameters.
In a survey of 101 children mastocytosis was diagnosed and classified according to World Health Organization criteria. In all the cases serum tryptase levels and the SCORMA Index were done to assess the extent and intensity of the disease.
Cutaneous mastocytosis was diagnosed in 100 children; 84% of them presented maculopapular CM, 10% mastocytoma and 6% diffuse cutaneous mastocytosis. Moreover, systemic mastocytosis with bone marrow infiltration and associated with maculopapular CM was found in one case. There was a positive correlation of serum tryptase level to the SCORMA Index. Both the mean tryptase level and the mean SCORMA Index were elevated in diffuse cutaneous mastocytosis children when compared with other forms CM. A significantly higher mean tryptase level was found in children with flushing, hypotension, diarrhoea, extensive bullous lesions and osteoporosis or osteopenia. ConclusION: Mastocytosis in children usually has a benign course. Nevertheless, severe mediator-related symptoms and systemic involvement may appear. Therefore, a multidisciplinary approach involving careful monitoring of the serum tryptase level, SCORMA Index and the organ function is recommended. Both tryptase levels and the SCORMA Index are of a great value as disease severity parameters and they should be assessed simultaneously in all mastocytosis patients.
© 2011 The Authors. Journal of the European Academy of Dermatology and Venereology © 2011 European Academy of Dermatology and Venereology.