Systemic mastocytosis (SM) can cause debilitating symptoms, such as rash and life-threatening anaphylaxis, and detrimental long-term outcomes for patients1,2

SM is a genetic disease associated with the uncontrolled proliferation and activation of abnormal mast cells, and is driven by the KIT D816V mutation in ~95% cases2–4

Estimated prevalence

~1 in 10,000

adults have SM5*

Icon of the world with an arrow going around it
Illustration on a card of a person lifting up their shirt and showing their skin

Did you know?

Despite polypharmacy with symptom-directed therapies, many patients’ disease remains uncontrolled. There is a need for mast cell-reducing therapies that target the underlying driver of the disease6

The 2022 World Health Organization (WHO) diagnostic criteria identify 2 types of SM, which are classified into 6 subtypes7

SM can have detrimental long-term effects on patients, regardless of subtype:

Non-Advanced SM

Non-Advanced SM carries with it a risk of life‑threatening anaphylaxis in some cases3

Advanced SM

Advanced SM is associated with a poor prognosis and decreased overall survival of <3.5 years due to organ damage3,8

Advanced SM patients commonly exhibit mast-cell mediator symptoms such as maculopapular rash and life-threatening anaphylaxis1

Illustrations on two overlapping cards. First card shows someone suffering from chest pain. Second card shows someone sleeping sideways on a bed, head on a pillow. Illustrations on two overlapping cards. First card shows someone suffering from chest pain. Second card shows someone sleeping sideways on a bed, head on a pillow.

Did you know?

SM may progress over time in subsets of patients4†

*Based on Cohen 2014 study of 548 adults with SM diagnosed from 1997 to 2010 in linked Danish national health registries, with a 14-year limited-duration prevalence estimated at 9.59 per 100,000 as of 1 January 2011.5
†~3% of patients with ISM and ~18% of patients with SSM progress to more advanced disease.4

20+

unpredictable and potentially severe symptoms can occur in patients with SM.1,4 The presentation and course of symptoms vary amongst SM patients. However, common symptoms that could raise the suspicion of SM include:

Red icon of a person experiencing symptoms of maculopapular skin lesion

95%

of ISM patients and 50% of advanced SM patients experience maculopapular skin lesions9*

Small monomorphic lesions often appear on the thighs or trunk of the body9

Wheal-and-flare reaction is induced by stroking lesions with tongue spatula9

Icon of heart orange

33%

of SM patients experience anaphylaxis1†

Commonly triggered by hymenoptera stings; unexplained or idiopathic anaphylaxis is also commonly observed3

Frequently coupled with hypotension and can be life-threatening3

Icon of the gastrointestinal tract purple

45%

of SM patients experience diarrhoea1†

Often chronic and associated with other gastrointestinal symptoms such as nausea and abdominal pain1

Recognising severe and recurrent instances of the common symptoms can raise the suspicion of SM: mast cell examination, serum tryptase assessment or high‑sensitivity KIT D816V mutation testing can help diagnose SM10,11

SCREENING OPTIONS FOR SM

*As described by an expert-panel review of adult-onset mastocytosis (predominantly indolent population) in Hartmann 2016 study.9
†Based on data from 163 patients with self-reported mastocytosis in Mast Cell Connect registry in Jennings 2018 study.1

Explore the full range of potential clinical consequences across multiple organ systems for patients with SM1,3,4

This is not an inclusive list of all symptoms. The frequency and intensity of any given symptom may vary from person to person

Icon of girl cartoon for SM symptoms red

SYSTEMIC1,4

Fatigue
Weight loss
Anaphylaxis
Malaise

Icon of lungs red

RESPIRATORY1,4

Dyspnoea
Nasal congestion
Throat swelling
Wheezing

Icon of the bones in the knee, with a red circle around the knee

MUSCULOSKELETAL4

Bone pain
Myalgia
Osteolytic lesions

Red icon of a person experiencing symptoms of maculopapular skin lesion

SKIN1,4

Pruritus
Flushing
Maculopapular lesions

Icon of a heart

CARDIOVASCULAR4

Anaphylaxis with
hypotension and syncope
Dizziness
Palpitations

Icon of liver and spleen

LIVER/SPLEEN3

Liver dysfunction
Hypersplenism

Icon of a brain pink and orange

NEUROPSYCHIATRIC4

Memory/cognitive impairment
Depression
Migraines
Sleep disturbance

Icon of the gastrointestinal tract

GASTROINTESTINAL1,4

Nausea/vomiting
Diarrhoea
Abdominal pain
Heartburn or reflux

Organopathy due to mast cell infiltration can occur, causing lymphadenopathy, hepatomegaly/ascites, cytopenias, malabsorption or protein-losing enteropathy with weight loss4

Patients commonly experience uncertainty about whether a particular symptom is due to their mast cell disorder1

Symptoms can be triggered by aspects of everyday life, including heat, stress, exercise, and food, although these triggers vary considerably and are not always representative1

Heat triggered

82%

of patients1‡

Stress triggered

81%

of patients1‡

‡Based on data from Jennings 2018 study.1

Learn about screening options in patients with suspected SM

DiscoverSM

References V

  1. Jennings SV, et al. Immunol Allergy Clin North Am. 2018;38(3):505–525.
  2. Jensen B, et al. J Clin Nurs. 2019;28(7–8):1114–1124.
  3. Gülen T, et al. J Intern Med. 2016;279(3):211–228.
  4. Pardanani A. Am J Hematol. 2021;96(4):508–525.
  5. Cohen SS, et al. Br J Haematol. 2014;166(4):521–528.
  6. Gilreath JA, et al. Clin Pharmacol. 2019;11:77–92.
  7. Khoury JD, et al. Leukemia. 2022;36(7):1703–1719.
  8. Lim K-H, et al. Blood. 2009;113(23):5727–5736.
  9. Hartmann K, et al. J Allergy Clin Immunol. 2016;137(1):35–45.
  10. Shomali W, Gotlib J. Hematology. 2018;2018(1):127–136.
  11. Valent P, et al. J Allergy Clin Immunol Pract. 2022;10(8):1999–2012.

Want to learn more about Systemic Mastocytosis?

Visit our Resources Page for more information.

Take me there!

We use cookies that are strictly necessary to operate this website. We also use optional cookies to improve your accessibility to our website and its functionality, to analyze and track your use of our website, and to give you the best possible user experience. By clicking on the “Reject All Cookies” button, you understand that strictly necessary cookies will continue to be deployed for the operation of this website. For more detailed information on our use of cookies on this website, please read our Cookies policy, which also explains how to customize your cookies settings. You can also “Accept All Cookies” or customize your cookies settings by clicking on the buttons provided below.” Click "Cookie Settings" to update your personal cookie preferences or review our Privacy policy.

To top