Materiały źródłowe

• #1 Epidemiology of mastocytosis: a population-based study (Sweden) – PubMed

  https://pubmed.ncbi.nlm.nih.gov/38380845/

  Mastocytosis is a disease characterized by accumulation of aberrant mast cells and mediator-related symptoms and is divided into systemic mastocytosis (SM) and cutaneous mastocytosis (CM). The epidemiology of mastocytosis remains incompletely understood. […] We identified 2,040 adults with a mastocytosis diagnosis yielding an annual incidence of 1.56 per 100,000 (95% CI 1.29-1.87) and a prevalence of 23.9 per 100,000 (95% CI 22.8-25.0). The comorbidity burden was higher, and the OS lower, in patients with mastocytosis compared to comparators. […] We found a higher incidence and prevalence of mastocytosis compared to assessments in other settings and confirmed that the prognosis generally is favorable. Of special note was evidence of a higher comorbidity burden in mastocytosis patients compared to the background population.

• #1

  https://link.springer.com/article/10.1007/s10654-024-01195-5

  Mastocytosis is a group of rare heterogeneous diseases with a prevalence previously found to be 1023 per 100,000 persons. […] Here, we set out to present the prevalence and incidence rate of mastocytosis among the adult Danish population. […] The prevalence of mastocytosis was 27.43 per 100,000 persons (95% confidence interval [CI]: 25.9528.96) as of January 1, 2022, and the 25-year average incidence rate between 1997 and 2021 was 1.21 per 100,000 persons (95%CI: 1.021.40) with an increasing incidence rate since 2002. […] We found a higher prevalence of mastocytosis among adults in the Danish population than previously reported, and an increasing incidence rate during the last 20 years. […] The prevalence of mastocytosis in Denmark as of January 1, 2022, was 27.43 per 100,000 (95% confidence interval (CI): 25.9528.96).

• #1 Comprehensive mastocytosis data analysis from a single center | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/s12885-022-10498-3

  Mastocytosis is a rare disease with diverse presentation and variable prognosis, characterized by clonal mast cell proliferation. It is considered to be an orphan disease, and there is the limited number of epidemiological studies. In a Danish study, the overall incidence of systemic mastocytosis (SM) was 0.9 per 100,000 per year, and more than 80% of these patients were diagnosed with indolent systemic mastocytosis (ISM) […] In another study, the prevalence of ISM in the adult population in the Netherlands has been estimated to be 13 cases per 100,000 inhabitants. In a study from Germany, the incidence and prevalence of patients with advanced systemic mastocytosis were 0.9 and 7 per 1 million inhabitants, respectively. In a Swedish study, the incidence was 0.77/100.000 people per year. It is seen at similar frequencies in different populations with an increase in awareness.

• #1

  https://link.springer.com/article/10.1007/s10654-024-01195-5

  The average incidence rate of mastocytosis between 1997 and 2021 was 1.21 per 100,000 (95% CI: 1.021.40) (Table 3) with an increasing yearly incidence rate since 2002. […] The prevalence of mastocytosis has risen during the last two decades since van Doormal et al. and Cohen et al. found a prevalence of approximately 1013 per 100,000 persons in 20132014. […] In this study, we confirmed earlier findings of a favorable prognosis of non-advanced mastocytosis comparable to the general population, and an overall poor survival in the AdvSM group. […] However, an increasing incidence rate reveal, that more and more patients are being diagnosed each year.

• #1 Orphanet: Systemic mastocytosis

  https://www.orpha.net/en/disease/detail/2467

  The prevalence in Europe is estimated between 1/7,700 and 1/10,400. Systemic mastocytosis (SM) preferentially affects Caucasians and there is no sex predominance. […] Summary Epidemiology.

• #1 Epidemiology of mastocytosis in adults based on a multidisciplinary diagnostic approach.

  https://iris.univr.it/handle/11562/893601?mode=complete

  Background: Mastocytosis is a rare disease. Some epidemiological informations are available about its cutaneous form in children but very few studies addressed the issue of its incidence and prevalence in adults. […] Aims: We evaluated the epidemiology of mastocytosis in the adult (18 years) population of the Verona province (Veneto region, Italy), based on the activity of the Multisciplinary Mastocytosis Outpatient Clinic, established in Verona in January 2006. […] Results: Seventy-four adults from a total of 293 patients in our Mastocytosis Registry were identified as living in the Verona province. […] The prevalence of mastocytosis in the Verona province adult population was 9.7 per 100,000 inhabitants, without gender differences. The incidence of new cases did not substantially change from 2008 to 2011 and was 0.93-1.34 per 100,000 inhabitants/year.

• #1 Mastocytosis (Mast Cell Disorder): Symptoms and Treatment

  https://patient.info/doctor/mastocytosis-and-mast-cell-disorders

  Mastocytosis is a rare disorder with an estimated prevalence of 1 in 10,000 persons. 95% of the systemic form occurs in adults and it affects men and women equally. […] 90% of the cutaneous form occurs in children.

• #1 Mastocytosis: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1057932-overview

  Of new patients visiting dermatology clinics, 0.1-0.8% have some form of mastocytosis. Maculopapular cutaneous mastocytosis is the most common subgroup found in children, at approximately 47-75% of cases. There are approximately 17-51% of mastocytoma and 1-5% of diffuse cutaneous mastocytoma in pediatric cases as well. […] Most reported cases are in whites. The cutaneous lesions of most types of mastocytosis are less visible in persons with more heavily pigmented skin. […] Mastocytosis affects males and females equally (no known sex predilection). […] Most patients with mastocytosis are children; 75% of cases occur during infancy or early childhood and usually resolve by puberty. Mastocytosis incidence peaks again in patients aged 30-49 years.

• #1 Cutaneous mastocytosis

  https://atlasgeneticsoncology.org/haematological/2156/cutaneous-mastocytosis

  Cutaneous mastocytosis is predominantly a disease of childhood. In a literature review involving 1747 cases, 23% of cases had congenital mastocytosis and 90% of cases had disease onset before the 2 years of age (Mni et al, 2015). In a series of 101 children with mastocytosis, 73% of cases presented within the first 6 months of life and 97% of cases presented by 2 years of age (Lange et al, 2013) Urticaria pigmentosa/maculopapular cutaneous mastocytosis (MPCM) has the highest incidence rate of 74.8-84.7%, followed by mastocytoma at 6.9-19.5%, and lastly diffuse cutaneous mastocytosis at 5.2-9% (Bodemer et al, 2010; Lange et al, 2013; Kiszewski et al, 2004; Mni et al, 2015; Wiechers et al, 2015). […] In a large literature review with outcome data on 621 cases with a median follow-up of 6 years, complete regression was observed in 29% of cases, partial regression in 39% of cases, and stabilization in 27% of cases (Mni et al, 2015). In another large literature review, mastocytomas had a complete resolution rate of 10% per year and urticarial pigmentosa had a resolution rate of 1.9% per year; diffuse cutaneous mastocytosis did not show evidence of complete resolution (Le et al, 2017).

• #1 Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/203948-overview

  A slight male preponderance in the incidence of mastocytosis is noted. Mastocytosis is more common in children than in adults, and it is usually transient and self-limited in children compared with the adult version. Onset is before age 2 years in 55% of patients and is from 2 and 15 years in 10% of patients. […] In adults, the median age at diagnosis of systemic mastocytosis is 55 years. Lim et al reported that patients with indolent systemic mastocytosis were younger and symptomatic for a longer duration of time as compared with patients with ASM or SM-AHNMD.

• #1 Current Challenges in the Diagnosis of Pediatric Cutaneous Mastocytosis

  https://www.mdpi.com/2075-4418/13/23/3583

  Mastocytosis is a heterogenous group of neoplasms characterized by an expansion and accumulation of neoplastic mast cells (MCs) in the skin and/or internal organs, mostly the bone marrow (BM), spleen, lymph nodes, liver, and gastrointestinal organs. The estimated prevalence of CM is 1–3 per 10,000, while the prevalence of SM is approximately 1 per 10,000. […] Generally, the majority of pediatric patients suffer from CM, associated with a tendency for spontaneous regression around puberty and a favorable prognosis. The majority of children experience disease onset within the first 2 years of life. […] SM rarely occurs in children and mostly presents as an indolent SM (ISM). […] A recent update of the diagnostic criteria, established by the consensus group, included one major and three minor criteria.

• #1 Mastocytosis

  http://hemepathreview.com/WHO-Review/Outline/Chapter11.htm

  Mastocytosis may occur at any age. […] Cutaneous mast cell disease is most common in children. […] It may be present at birth, and 80% of afflicted children demonstrate lesions by 6 months of age. […] In adults, CM usually appears in the third and fourth decade of life. […] There is no sex predilection reported for CM. […] Systemic mastocytosis is generally diagnosed after the third decade of life; the male to female ratio has been reported to vary from 1 to 1:3.

• #1 Role of sclerostin in mastocytosis bone disease | Scientific Reports

  https://www.nature.com/articles/s41598-024-83851-0

  Mastocytosis is a rare (orphan) disease. Most epidemiological data on the disease comes from the Scandinavian countries of Denmark, Sweden and Norway, due to the prevalence in these nations. Its average annual incidence, according to various researches, ranges from 0.77 to 2.77 per 100,000 inhabitants, and the prevalence varies from 9.59 to 17.2 per 100,000 inhabitants. These rates are rising every year, mainly due to increased awareness and proper diagnosis of the disease. There are no significant differences in prevalence between the sexes, there is only a predilection among Caucasians. SM is more often observed among the elderly (average age is 60), although it also occurs in the pediatric population. […] Bone involvement occurs in about 70% of patients with SM. The most common findings are osteopenia and osteoporosis. Osteoporotic fractures occur in about 40% of patients. The cases described radiologically include mixed generalized bone remodeling, osteosclerotic and osteolytic focal lesions located in the spine and long bones, and compression fractures. The pathogenesis of bone alterations in SM remains unclear.

• #1 Orphanet: Indolent systemic mastocytosis

  https://www.orpha.net/en/disease/detail/98848

  Indolent SM (ISM) represents 90% of all cases of SM for which the prevalence in Europe is estimated between 1/7,700 and 1/10,400. […] The evolution of ISM and of BMM is slow and benign. The prognosis is generally good and life expectancy is similar to that of the general population.

• #1 Update on Mastocytosis (Part 2): Categories, Prognosis, and Treatment | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/es-update-on-mastocytosis-part-2–articulo-resumen-S157821901500311X

  Mastocytosis is classified into different categories of disease based on World Health Organization (WHO) criteria and consensus proposals. To discuss these categories, we have divided them into cutaneous and systemic forms. […] Indolent systemic mastocytosis (ISM) is the most common presentation of SM in adults, and can present with skin lesions (ISM[+]) or without (ISM[-]). ISM(+) accounts for 79% of SM cases being monitored by the Spanish Mastocytosis Network (REMA) while ISM(-) can occur in association with anaphylaxis with predominantly cardiovascular symptoms. […] The WHO has defined a set of criteria referred to as B findings and C findings to establish the aggressive nature of mastocytosis. While IMS does not have either B or C findings, the WHO classification includes a category known as smouldering mastocytosis, which is a latent systemic form characterized by 2 or more B findings and no C findings.

• #1 Current Challenges in the Diagnosis of Pediatric Cutaneous Mastocytosis

  https://www.mdpi.com/2075-4418/13/23/3583

  Advanced forms of SM such as aggressive systemic mastocytosis (ASM), SM with an associated hematologic neoplasm (SM-AHN) and mast cell leukemia (MCL) are reported occasionally in children. […] In recent years, an ongoing debate on how to optimize the diagnostic workup in children with suspected mastocytosis has taken place. […] Each universal diagnostic algorithm seems to be unreliable in individual cases. […] The most important procedures include the following: obtaining the medical history, performing a physical examination, performing a complete blood count with differentials, conducting serum chemistry analysis, measuring the basal serum tryptase level. […] Children with significant abnormalities in the complete blood count, organomegaly and a significantly elevated and/or rising serum tryptase level or other signs and symptoms suggesting the presence of advanced SM, or another systemic hematologic neoplasm, first require the determination of the KIT D816V mutation in PB using the sensitive allele-specific quantitative polymerase chain reaction (ASqPCR). […] The determination of the KIT D816V mutation (ASqPCR) in PB has recently been recommended in children with suspected SM before the decision to perform a BM biopsy is considered. […] Both the presence of KIT D816V (ASqPCR) in PB and organomegaly are the most reliable predictors of SM in children.

• #1 Systemic Mastocytosis – Epidemiology Forecast to 2032

  https://www.researchandmarkets.com/reports/5524486/systemic-mastocytosis-epidemiology-forecast-to?srsltid=AfmBOoogobW9g502vGj7zjTJAB0O9nvsdzZz228FCKu5IKa1yuB6RP3V

  The „Systemic Mastocytosis – Epidemiology Forecast to 2032” report delivers an in-depth understanding of the disease, historical and forecasted Systemic Mastocytosis epidemiology in the 7MM, i.e., the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. […] The Systemic Mastocytosis epidemiology report gives a thorough understanding of the Systemic Mastocytosis by including details such as disease definition, symptoms, causes, pathophysiology, and diagnosis. […] The Systemic Mastocytosis epidemiology division provides insights about historical and current patient pool and forecasted trend for every seven major countries. […] The Systemic Mastocytosis epidemiology segment covers the epidemiology data in the US, EU5 countries (Germany, Spain, Italy, France, and the UK), and Japan from 2019 to 2032.

• #1 Mastocytosis – Wikipedia

  https://en.wikipedia.org/wiki/Mastocytosis

  The true incidence and prevalence of mastocytosis is unknown, but mastocytosis generally has been considered to be an „orphan disease”; orphan diseases affect 200,000 or fewer people in the United States. Mastocytosis, however, often may be misdiagnosed, as it typically occurs secondary to another condition, and thus may occur more frequently than assumed.

• #1 Epidemiology, prognosis, and risk factors in mastocytosis – PubMed

  https://pubmed.ncbi.nlm.nih.gov/24745674/

  This article updates current knowledge about epidemiology, prognosis, and risk factors for major complications in mastocytosis. A prevalence of mastocytosis of 1 in 10000 inhabitants has been reported, but underdiagnosis is assumed. […] The prognosis for cutaneous and indolent systemic mastocytosis is excellent. For more advanced forms of disease, prognostic parameters have been identified. […] A high extent of skin involvement, increased basal serum tryptase values, and extensive blistering are risk factors for severe mast cell activation episodes in children, whereas these associations seem to be less strong or nonexistent for anaphylaxis and osteoporosis in adult patients with indolent systemic mastocytosis.

• #1 Update on Mastocytosis (Part 2): Categories, Prognosis, and Treatment | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/es-update-on-mastocytosis-part-2–articulo-resumen-S157821901500311X

  Prognosis is generally favorable in pediatric mastocytosis, with most cases resolving around puberty. However, the number of cases that persist into adulthood might be underestimated, as little information is available on such cases. […] Adult-onset mastocytosis tends to persist. In indolent SM, which is the most frequent presentation, the likelihood of progression to more aggressive disease is directly related to the pattern of c-kit mutations. […] As no cures are currently available for mastocytosis and the prognosis is generally favorable, the goal of treatment is symptomatic relief in most cases. Treatment recommendations include general measures aimed at preventing factors that can trigger massive mast cell degranulation and more specific measures to control symptoms caused by the acute or chronic release of mast cell mediators; cytoreductive therapy is also recommended in aggressive mastocytosis to reduce the mast cell burden. […] The goal of treatment is typically to relieve symptoms caused by the release of mediators from mast cells, ensure avoidance of triggers, control symptoms using scheduled or on-demand antimediator therapy, and reduce mast cell burden in patients with advanced SM.

• #1 Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/203948-overview

  Systemic mastocytosis is an extremely rare disorder in the United States; the specific incidence has not been reported. Likewise, 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. […] Systemic mastocytosis is a progressive neoplastic disorder that has no known curative therapy. Survival in patients with indolent systemic mastocytosis, with a median survival of 198 months, is not significantly different from the general population. However, median survival with aggressive systemic mastocytosis (ASM) is 41 months and that with systemic mastocytosis with associated hematological nonmast cell disorder (SM-AHNMD) is 24 months. Acute mast cell leukemia has the poorest prognosis, with a median survival of 2 months.

• #1 The prevalence of malignant melanoma in adults with mastocytosis and adnexal skin tumours: a case-control study – Hermans – Annals of Cancer Epidemiology

  https://ace.amegroups.org/article/view/6798/html

  The prevalence of malignant melanoma appears to be increased in patients with mastocytosis, a clonal mast cell disease. However, it is unclear whether this is a causal association or rather resultant of increased surveillance. […] The prevalence of melanoma in the PALGA mastocytosis cohort (N=3,653) was 1.6% versus 3.0% in the control cohort of with adnexal skin tumours (N=3,705). […] The prevalence of melanoma is increased in mastocytosis as well as in adnexal tumours compared to pre-existent data from the general population. These results suggest that enhanced detection might play a role due to more frequent skin surveillance, also known as Berksons bias. […] The prevalence rate ratio is approximately 5 and 10 times higher than in the general Dutch population, respectively. These results suggest that enhanced skin surveillance might, at least partly, lead to detection bias explaining the higher prevalence of melanoma among mastocytosis patients.

• #1 Advanced Systemic Mastocytosis: Expert Insight into Epidemiology, Diagnosis, and Treatment

  https://www.onclive.com/view/advanced-systemic-mastocytosis-expert-insight-into-epidemiology-diagnosis-and-treatment

  SM-AHN is sometimes considered an AdvSM and otherwise considered as additional to 1 of the other 4 classifications. […] The specialists noted that most of their patients with SM come by way of referral. […] According to Lugar, the screening includes a physical examination. […] Given the noted difficulties of understanding and identifying the mechanisms of SM, diagnosis is often made differentially, Lugar added, which itself is associated with several challenges. […] Given these challenges, the panelists underscored that the information from referring physicians is critical for an accurate diagnosis. […] As testing methods and treatment options expand, the rarity and complexity of SM will continue to present significant challenges regarding identification and management.

• #1 Cutaneous and Systemic Manifestations of Mastocytosis | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0601/p3047.html

  Mastocytosis is characterized by an excessive number of apparently normal mast cells in the skin and, occasionally, in other organs. […] The prevalence of mastocytosis in the general population is unknown. It has been reported to be present in one of 1,000 to 8,000 new patients evaluated at a dermatology clinic. […] Mastocytosis occurs in all races, and there is no sex predilection. The peak incidence is during infancy and early childhood, with a second peak occurring in middle age. […] The diagnosis of mastocytosis is easily missed and often delayed until years after onset, sometimes resulting in a disastrous outcome. […] The prevalence of systemic involvement increases with age, and approaches 15 to 30 percent in adults with skin lesions. […] The risk of associated malignant disease in adults with mastocytosis ranges from 2 percent in those with only urticaria pigmentosa to 70 percent in elderly symptomatic patients with systemic mastocytosis and no skin lesions. […] The role of periodic surveillance is uncertain, but it may be useful to obtain a complete blood count regularly.

• #1 Epidemiology of mastocytosis in adults based on a multidisciplinary diagnostic approach.

  https://iris.univr.it/handle/11562/893601?mode=complete

  Summary / Conclusion: Although rare, mastocytosis in adults is at least 10 times more frequent than previously reported. […] However, the actual prevalence may be higher because ISM diagnosis is understimated especially when skin lesions and/or mediator symptoms are absent. A multidisciplinary diagnostic approach and a wide network of specialists are needed to improve the awareness about this disease and to define its actual epidemiology.

• #1 Mastocytosis Treatment Market Size in the 7MM is expected to grow

  https://www.openpr.com/news/3907023/mastocytosis-treatment-market-size-in-the-7mm-is-expected-to-grow

  Mastocytosis Epidemiology Insights The epidemiology section of Mastocytosis offers insights into both historical and current patient populations, as well as forecasted trends across seven major countries. This section aids in understanding the factors behind present and projected trends through analysis of various studies and input from key opinion leaders. Additionally, this portion of the market report provides information on the diagnosed patient pool, trends, and underlying assumptions. […] The increase in Mastocytosis Market Size is a direct consequence of the increasing patient population and anticipated launch of emerging therapies in the 7MM. […] As per DelveInsight analysis, the Mastocytosis Market is anticipated to witness growth at a considerable CAGR.

• #1 Role of sclerostin in mastocytosis bone disease | Scientific Reports

  https://www.nature.com/articles/s41598-024-83851-0

  Reports indicating elevated levels of sclerostin in the serum of patients with SM suggest the importance of studying the function of this protein in the pathogenesis of bone alterations in SM. […] In our study, we demonstrated that unstimulated, neoplastic mast cells (HMC-1.2 cell line) are capable of secreting sclerostin and that stimulation with IL-6 (at a concentration of 100ng/ml) results in a significant increase in SOST gene expression. This would suggest the potential role of sclerostin and the Wnt pathway as one of the components of the pathomechanism of bone damage in mastocytosis. Moreover, we observed significantly higher sclerostin levels in the plasma of patients diagnosed with more advanced disease stages such as ASM, SM-AHN, and SSM compared to patients with ISM and CM.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Systemic-Mastocytosis.aspx

  Systemic mastocytosis has an estimated prevalence of 1 in 10,000 to 20,000 worldwide. […] Clinical and hybrid clinical-molecular risk models have recently been developed to better predict prognosis in SM patients.

• #2

  https://link.springer.com/article/10.1007/s10654-024-01195-5

  Mastocytosis is a group of rare heterogeneous diseases with a prevalence previously found to be 1023 per 100,000 persons. […] Here, we set out to present the prevalence and incidence rate of mastocytosis among the adult Danish population. […] The prevalence of mastocytosis was 27.43 per 100,000 persons (95% confidence interval [CI]: 25.9528.96) as of January 1, 2022, and the 25-year average incidence rate between 1997 and 2021 was 1.21 per 100,000 persons (95%CI: 1.021.40) with an increasing incidence rate since 2002. […] We found a higher prevalence of mastocytosis among adults in the Danish population than previously reported, and an increasing incidence rate during the last 20 years. […] The prevalence of mastocytosis in Denmark as of January 1, 2022, was 27.43 per 100,000 (95% confidence interval (CI): 25.9528.96).

• #2 Epidemiology of mastocytosis in adults based on a multidisciplinary diagnostic approach.

  http://iris.univr.it/handle/11562/893601?mode=complete

  Background: Mastocytosis is a rare disease. Some epidemiological informations are available about its cutaneous form in children but very few studies addressed the issue of its incidence and prevalence in adults. […] Aims: We evaluated the epidemiology of mastocytosis in the adult (18 years) population of the Verona province (Veneto region, Italy), based on the activity of the Multisciplinary Mastocytosis Outpatient Clinic, established in Verona in January 2006. […] The prevalence of mastocytosis in the Verona province adult population was 9.7 per 100,000 inhabitants, without gender differences. The incidence of new cases did not substantially change from 2008 to 2011 and was 0.93-1.34 per 100,000 inhabitants/year. […] Although rare, mastocytosis in adults is at least 10 times more frequent than previously reported.

• #2 Clinical Outcomes of Adults with Systemic Mastocytosis: A 15-Year Multidisciplinary Experience

  https://www.mdpi.com/2072-6694/14/16/3942

  The term mastocytosis denotes a heterogeneous group of rare disorders characterized by abnormal accumulation and activation of mast cells in various organs. […] We found that most patients in our cohort suffered from the indolent variant of mastocytosis. Furthermore, we determined the overall prevalence of mastocytosis in our region to be one case per 10,000 adults. […] The prevalence of SM in the adult population of the Stockholm region was estimated to be 10.6/100,000 inhabitants, and the mean incidence of SM cases in the Stockholm region was 0.77/100,000 people per year. […] The prevalence of SM in the adult population of the Stockholm region was 10.6 per 100,000 inhabitants during the study period. Likewise, we roughly estimated the mean incidence of new SM diagnosis/year in the Stockholm region, and found it to be 0.77 per 100,000 people per year.

• #2 Orphanet: Indolent systemic mastocytosis

  https://www.orpha.net/en/disease/detail/98848

  Indolent SM (ISM) represents 90% of all cases of SM for which the prevalence in Europe is estimated between 1/7,700 and 1/10,400. […] The evolution of ISM and of BMM is slow and benign. The prognosis is generally good and life expectancy is similar to that of the general population.

• #2 Epidemiology of mastocytosis in adults based on a multidisciplinary diagnostic approach.

  https://iris.univr.it/handle/11562/893601?mode=complete

  Summary / Conclusion: Although rare, mastocytosis in adults is at least 10 times more frequent than previously reported. […] However, the actual prevalence may be higher because ISM diagnosis is understimated especially when skin lesions and/or mediator symptoms are absent. A multidisciplinary diagnostic approach and a wide network of specialists are needed to improve the awareness about this disease and to define its actual epidemiology.

• #2 Role of sclerostin in mastocytosis bone disease | Scientific Reports

  https://www.nature.com/articles/s41598-024-83851-0

  Mastocytosis is a rare (orphan) disease. Most epidemiological data on the disease comes from the Scandinavian countries of Denmark, Sweden and Norway, due to the prevalence in these nations. Its average annual incidence, according to various researches, ranges from 0.77 to 2.77 per 100,000 inhabitants, and the prevalence varies from 9.59 to 17.2 per 100,000 inhabitants. These rates are rising every year, mainly due to increased awareness and proper diagnosis of the disease. There are no significant differences in prevalence between the sexes, there is only a predilection among Caucasians. SM is more often observed among the elderly (average age is 60), although it also occurs in the pediatric population. […] Bone involvement occurs in about 70% of patients with SM. The most common findings are osteopenia and osteoporosis. Osteoporotic fractures occur in about 40% of patients. The cases described radiologically include mixed generalized bone remodeling, osteosclerotic and osteolytic focal lesions located in the spine and long bones, and compression fractures. The pathogenesis of bone alterations in SM remains unclear.

• #2 SciELO Brazil – Systemic mastocytosis – a diagnostic challenge Systemic mastocytosis – a diagnostic challenge

  https://www.scielo.br/j/rbhh/a/9cLWWjdbqDkf5My4fVKzQdz/?lang=en

  Mastocytosis refers to a group of disorders characterized by the infiltration of clonally derived mast cells to the skin or extracutaneous tissues resulting in a heterogeneous clinical picture. It is a rare hematologic disorder in all its forms. The exact incidence is unknown; it affects patients of any age and males and females equally. […] This is a rare disease in all its forms. The exact incidence is unknown and it can appear at any age, but mostly in children in which the disease is generally limited to the skin; it affects males and females equally. […] The diagnosis is histopathological and should include a bone marrow evaluation because, in most cases, infiltration occurs. […] After establishing the diagnosis it is necessary to define the disease category and the presence of B findings, corresponding to organ enlargement without organ dysfunction, or C findings that denote organ function impairment due to excessive mast cell infiltration; this latter is associated to a poorer prognosis. […] Currently, there are no curative therapies for SM and treatment is intended to reduce symptoms and improve quality of life.

• #2 Cutaneous and Systemic Manifestations of Mastocytosis | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0601/p3047.html

  Mastocytosis is characterized by an excessive number of apparently normal mast cells in the skin and, occasionally, in other organs. […] The prevalence of mastocytosis in the general population is unknown. It has been reported to be present in one of 1,000 to 8,000 new patients evaluated at a dermatology clinic. […] Mastocytosis occurs in all races, and there is no sex predilection. The peak incidence is during infancy and early childhood, with a second peak occurring in middle age. […] The diagnosis of mastocytosis is easily missed and often delayed until years after onset, sometimes resulting in a disastrous outcome. […] The prevalence of systemic involvement increases with age, and approaches 15 to 30 percent in adults with skin lesions. […] The risk of associated malignant disease in adults with mastocytosis ranges from 2 percent in those with only urticaria pigmentosa to 70 percent in elderly symptomatic patients with systemic mastocytosis and no skin lesions. […] The role of periodic surveillance is uncertain, but it may be useful to obtain a complete blood count regularly.

• #2 Cutaneous mastocytosis

  https://atlasgeneticsoncology.org/haematological/2156/cutaneous-mastocytosis

  Cutaneous mastocytosis is predominantly a disease of childhood. In a literature review involving 1747 cases, 23% of cases had congenital mastocytosis and 90% of cases had disease onset before the 2 years of age (Mni et al, 2015). In a series of 101 children with mastocytosis, 73% of cases presented within the first 6 months of life and 97% of cases presented by 2 years of age (Lange et al, 2013) Urticaria pigmentosa/maculopapular cutaneous mastocytosis (MPCM) has the highest incidence rate of 74.8-84.7%, followed by mastocytoma at 6.9-19.5%, and lastly diffuse cutaneous mastocytosis at 5.2-9% (Bodemer et al, 2010; Lange et al, 2013; Kiszewski et al, 2004; Mni et al, 2015; Wiechers et al, 2015). […] In a large literature review with outcome data on 621 cases with a median follow-up of 6 years, complete regression was observed in 29% of cases, partial regression in 39% of cases, and stabilization in 27% of cases (Mni et al, 2015). In another large literature review, mastocytomas had a complete resolution rate of 10% per year and urticarial pigmentosa had a resolution rate of 1.9% per year; diffuse cutaneous mastocytosis did not show evidence of complete resolution (Le et al, 2017).

• #2 Update on Mastocytosis (Part 2): Categories, Prognosis, and Treatment | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/es-update-on-mastocytosis-part-2–articulo-resumen-S157821901500311X

  Mastocytosis is classified into different categories of disease based on World Health Organization (WHO) criteria and consensus proposals. To discuss these categories, we have divided them into cutaneous and systemic forms. […] Indolent systemic mastocytosis (ISM) is the most common presentation of SM in adults, and can present with skin lesions (ISM[+]) or without (ISM[-]). ISM(+) accounts for 79% of SM cases being monitored by the Spanish Mastocytosis Network (REMA) while ISM(-) can occur in association with anaphylaxis with predominantly cardiovascular symptoms. […] The WHO has defined a set of criteria referred to as B findings and C findings to establish the aggressive nature of mastocytosis. While IMS does not have either B or C findings, the WHO classification includes a category known as smouldering mastocytosis, which is a latent systemic form characterized by 2 or more B findings and no C findings.

• #2

  https://link.springer.com/article/10.1007/s10654-024-01195-5

  The average incidence rate of mastocytosis between 1997 and 2021 was 1.21 per 100,000 (95% CI: 1.021.40) (Table 3) with an increasing yearly incidence rate since 2002. […] The prevalence of mastocytosis has risen during the last two decades since van Doormal et al. and Cohen et al. found a prevalence of approximately 1013 per 100,000 persons in 20132014. […] In this study, we confirmed earlier findings of a favorable prognosis of non-advanced mastocytosis comparable to the general population, and an overall poor survival in the AdvSM group. […] However, an increasing incidence rate reveal, that more and more patients are being diagnosed each year.

• #3

  https://link.springer.com/article/10.1007/s10654-024-01195-5

  The average incidence rate of mastocytosis between 1997 and 2021 was 1.21 per 100,000 (95% CI: 1.021.40) (Table 3) with an increasing yearly incidence rate since 2002. […] The prevalence of mastocytosis has risen during the last two decades since van Doormal et al. and Cohen et al. found a prevalence of approximately 1013 per 100,000 persons in 20132014. […] In this study, we confirmed earlier findings of a favorable prognosis of non-advanced mastocytosis comparable to the general population, and an overall poor survival in the AdvSM group. […] However, an increasing incidence rate reveal, that more and more patients are being diagnosed each year.

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