Maud A W Hermans1, Mark J A Rietveld2, Jan A M van Laar2, Virgil A S H Dalm2, Maurice Verburg3, Suzanne G M A Pasmans3, Roy Gerth van Wijk4, P Martin van Hagen2, Paul L A van Daele2. 1. Section of Clinical Immunology, Internal Medicine, Erasmus MC University Medical Centre, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. Electronic address: m.hermans@erasmusmc.nl. 2. Section of Clinical Immunology, Internal Medicine, Erasmus MC University Medical Centre, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. 3. Section of Paediatric Dermatology, Dermatology, Erasmus MC University Medical Centre, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. 4. Section of Allergology, Internal Medicine, Erasmus MC University Medical, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.
Abstract
BACKGROUND: Systemic mastocytosis (SM) is a rare heterogeneous disease which is characterized by the aberrant proliferation of mast cells. It can be divided into various subtypes with different phenotypes and prognoses. Here, we report on the clinical characteristics of 136 SM patients. METHODS: A retrospective cohort study was conducted from January 2009 to September 2014 in a large tertiary centre in The Netherlands. We included all patients who fulfilled WHO criteria for SM. Data were collected from electronic patient files. RESULTS: A total of 124 patients had indolent SM (ISM) (91.2%), 7 had aggressive SM (ASM) (5.1%) and 5 had SM with associated hematological non-mast cell lineage disease (SM-AHNMD) (3.7%). There was no progression from ISM to advanced SM subtypes, but 1 patient with ASM developed chronic myelocytic leukemia 2years after diagnosis. The average time to diagnosis for the whole population was 8.1years (range, 0-49years). The most frequent triggers for work-up-skin involvement, anaphylaxis and osteoporosis-were characterized by an interval to diagnosis of 10.9, 2.9 and 7.5years, respectively. A total of 32 patients (23.5%) had a serum tryptase levels below the cutoff value of 20ng/mL at the time of diagnosis, but these patients did not have significant differences in clinical phenotype. CONCLUSIONS: SM comprises a wide spectrum of signs and symptoms and its often atypical presentation can delay the establishment of the diagnosis substantially. Skin involvement, anaphylaxis and unexplained osteoporosis should trigger analysis for mastocytosis. A normal serum tryptase does not exclude the diagnosis of SM.
BACKGROUND: Systemic mastocytosis (SM) is a rare heterogeneous disease which is characterized by the aberrant proliferation of mast cells. It can be divided into various subtypes with different phenotypes and prognoses. Here, we report on the clinical characteristics of 136 SM patients. METHODS: A retrospective cohort study was conducted from January 2009 to September 2014 in a large tertiary centre in The Netherlands. We included all patients who fulfilled WHO criteria for SM. Data were collected from electronic patient files. RESULTS: A total of 124 patients had indolent SM (ISM) (91.2%), 7 had aggressive SM (ASM) (5.1%) and 5 had SM with associated hematological non-mast cell lineage disease (SM-AHNMD) (3.7%). There was no progression from ISM to advanced SM subtypes, but 1 patient with ASM developed chronic myelocytic leukemia 2years after diagnosis. The average time to diagnosis for the whole population was 8.1years (range, 0-49years). The most frequent triggers for work-up-skin involvement, anaphylaxis and osteoporosis-were characterized by an interval to diagnosis of 10.9, 2.9 and 7.5years, respectively. A total of 32 patients (23.5%) had a serum tryptase levels below the cutoff value of 20ng/mL at the time of diagnosis, but these patients did not have significant differences in clinical phenotype. CONCLUSIONS: SM comprises a wide spectrum of signs and symptoms and its often atypical presentation can delay the establishment of the diagnosis substantially. Skin involvement, anaphylaxis and unexplained osteoporosis should trigger analysis for mastocytosis. A normal serum tryptase does not exclude the diagnosis of SM.
Authors: Maud A W Hermans; Suzanne G M A Pasmans; Nicolette J T Arends; Thierry P P van den Bosch; Paul L A van Daele; Martijn B A van Doorn; Elise J Huisman; Antien L Mooyaart; Jeffrey Damman Journal: Clin Exp Dermatol Date: 2022-07-11 Impact factor: 4.481