Familial occurrence of systemic and cutaneous mastocytosis in an adult multicentre series

Tanasi, Ilaria; Bonifacio, Massimiliano; Pizzolato, Miriam; Grifoni, Federica Irene; Sciumè, Mariarita; Elena, Chiara; Benvenuti, Pietro; Mannelli, Francesco; Parente, Roberta; Schena, Donatella; Scaffidi, Luigi; Bonadonna, Patrizia; Papayannidis, Cristina; Rondoni, Michela; Criscuolo, Marianna; Vannucchi, Alessandro M.; Triggiani, Massimo; Martinelli, Giovanni; Krampera, Mauro; Zanotti, Roberta

doi:10.1111/bjh.17405

Cited by 6 publications

(3 citation statements)

References 9 publications

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“…No significant difference by sex was documented in one of the largest published studies, but a slightly male or female prevalence was reported in other studies reflecting the different populations referred to each center [ 10 , 11 , 12 , 13 ]. Familial cases of mastocytosis were reported in pediatric series and, recently, in a large series of adults with an estimated frequency of 1.5% [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

A Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years’ Experience of the GISM Network

Zanotti

Bonifacio

Isolan

et al. 2021

Cancers

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Systemic mastocytosis (SM) and other adult clonal mast cell disorders (CMD) are often underestimated, and their epidemiology data are scarce. We aimed at evaluating the impact of the activity of the Interdisciplinary Group for Study of Mastocytosis (GISM) of Verona on the prevalence and incidence of CMD. We examined the data of 502 adult patients diagnosed with CMD and residing in the Veneto Region, consecutively referred to GISM between 2006 and 2020. SM was diagnosed in 431 cases, while 71 patients had cutaneous mastocytosis or other CMD. Indolent SM represented the most frequent SM variant (91.0%), mainly with the characteristics of bone marrow mastocytosis (54.8%). The prevalence of SM in the adult population of the Veneto region and of the Verona province was 10.2 and 17.2/100,000 inhabitants, respectively. The mean incidence of new SM cases in Verona was 1.09/100,000 inhabitants/year. Hymenoptera venom allergy was the main reason (50%) leading to the CMD diagnosis. Osteoporosis, often complicated by fragility fractures, was present in 35% of cases, even in young patients, especially males. Our data show a higher prevalence and incidence of SM than previously reported, confirming that reference centers with multidisciplinary approach are essential for the recognition and early diagnosis of CMD.

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Section: Introductionmentioning

confidence: 99%

A Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years’ Experience of the GISM Network

Zanotti

Bonifacio

Isolan

et al. 2021

Cancers

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“…Beide Geschlechter sind etwa gleich häufig betroffen [10,11]. Zumeist handelt es sich um eine sporadische Erkrankung, familiäre Fälle sind jedoch beschrieben [12,13].…”

Section: Epidemiologieunclassified

Mastozytose

Jäger

Kinaciyan

2022

hautnah

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ZusammenfassungMastozytosen sind seltene, sporadisch auftretende Erkrankungen, bei denen es zu einer klonalen Vermehrung von Mastzellen in verschiedenen Geweben kommt. Zu den betroffenen Organen gehören am häufigsten die Haut und/oder das Knochenmark, aber auch Gastrointestinaltrakt, Leber, Milz, Lunge und Lymphknoten. Die Einteilung erfolgt in kutane und systemische Formen. Während die rein kutane Form eine gute Prognose hat, gibt es bei den systemischen Varianten schwere Formen wie die aggressive Mastozytose, die Mastzellleukämie und das sehr seltene Mastzellsarkom, die eine zytostatische Therapie erforderlich machen und die mit einer schlechten Prognose einhergehen. Kinder sind häufiger betroffen als Erwachsene und haben im Gegensatz zu den Erwachsenen meist eine rein kutane Form, die zur spontanen Remission neigt.Die Symptomatik im Bereich der Haut reicht von einzelnen bis zu diffus verteilten juckenden gelblich-bräunlichen Hauterscheinungen die fleckig, knotig und bei Säuglingen und Kleinkindern auch blasig sein können. Zu den systemischen Symptomen kommt es durch Freisetzung von großen Mengen an Mastzellmediatoren oder durch die Schädigung von Gewebe in Organen durch die Vermehrung von Mastzellen. Dementsprechend vielgestaltig sind die Symptome, unter denen sich Pruritus, Flush, Kopfschmerzen, Diarrhoe, Bauchkrämpfe, Palpitationen und schwere Anaphylaxien, v. a. auch nach Stichen durch Hautflügler wie Bienen oder Wespen, finden.

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“… 15 , 16 Recently, a study conducted on a large series of adult patients reported an estimated prevalence of familial cases of 1.5%. 17 …”

Section: Epidemiologymentioning

confidence: 99%

Systemic Mastocytosis: Multidisciplinary Approach

Zanotti¹,

Tanasi²,

Crosera³

et al. 2021

Mediterr J Hematol Infect Dis

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Systemic mastocytosis (SM) is a heterogeneous group of diseases that affect almost exclusively adults and are defined by the proliferation and accumulation of clonal mast cells (MC) in various tissues. Disease subtypes range from indolent to rare but aggressive forms. Although SM is classified as a rare disease, it is believed to be likely underdiagnosed. Major signs and symptoms mainly depend on MC activation and less frequently to organ infiltration, typical of more aggressive variants. Diagnosis may be challenging, and symptoms can be aspecific and involve several organs. It is advisable to refer patients to specialized centers, having sufficient knowledge of the disease, sensitive diagnostic procedures, offering a personalized and multidisciplinary diagnostic approach, including at least hematological, allergological, dermatological and rheumatological evaluations. A precise and timely diagnosis is required for: a) adequate counseling of patients and their physicians; b) beginning of symptomatic treatment (anti-mediator therapy); c) prevention of severe manifestations of the disease (i.e., recurrent anaphylaxis, osteoporosis and bone fractures); d) cytoreductive treatment of advanced SM variants. This review aims to summarize the main manifestations of the disease and describe the ideal diagnostic approach for adult patients with suspected SM, giving physicians the main notions for correct patient diagnosis and management. This review also highlights the importance of a multidisciplinary approach in this very complex disease.

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Familial occurrence of systemic and cutaneous mastocytosis in an adult multicentre series

Abstract: provided clinical data. Mauro Krampera reviewed the paper. Roberta Zanotti designed the research study, analyzed data and reviewed the paper. All authors read and approved the final manuscript.

Cited by 6 publications

References 9 publications

A Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years’ Experience of the GISM Network

A Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years’ Experience of the GISM Network

Mastozytose

Systemic Mastocytosis: Multidisciplinary Approach

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