SM can cause debilitating symptoms and significantly impact patients’ lives¹

Systemic mastocytosis (SM)
is a clonal mast cell neoplasm associated with the uncontrolled proliferation and activation of abnormal
mast cells.^2,3

Estimated prevalence

~32,000

US adults⁴

Did you know?

A patient may be on several symptom-directed
therapies to manage their disease, yet still
experience major impacts to their quality of life¹

EXPLORE HOW

The World Health Organization (WHO) diagnostic criteria identify
2 types of SM, which are classified into 5 subtypes²

SM can have detrimental long-term effects on patients regardless of subtype^5-7

Advanced SM

is associated with a decreased
overall survival of

<3.5 years

due to organ damage^5,6*

Non-Advanced SM

can progress over time to more advanced
disease in subsets of patients⁷

~5% with ISM

~9% with SSM

*Overall survival was examined in a retrospective study that included 342 consecutive adult patients with SM (includes 183 adults with Advanced SM) seen at the Mayo Clinic between 1976 and 2007. In ASM (n=41), overall survival was 41 months; 24 months in SM-AHN (n=138); 2 months in MCL (n=4). Median follow-up was 20.7 months.⁵

SM is driven by the KIT D816V mutation
in ~95% of cases^8-10

See how KIT D816V plays a central role in systemic mastocytosis²

20+ unpredictable and potentially severe symptoms
can occur in patients with SM^2,11,12

Hallmark symptoms often appear with
unexplained persistence or recurrence^11-13

Select each of the cards below
to learn more

64%

of patients
experience diarrhea¹⁴*

Whereas increased presence of gastrointestinal (GI) mucosal mast cells is seen in many common GI disorders, spindle-shaped mast cell aggregates and/or CD25 expression are unique to SM.¹⁵

Woman-lifting-shirt-to-show-skin-lesions-card

95%

of patients have maculopapular skin lesions^11†

Small monomorphic lesions often appear on the thighs or trunk of the body.¹¹

Wheal-and-flare reaction is elicited by stroking lesion with tongue spatula.¹¹

50%

of patients experience anaphylaxis^11†

Commonly triggered by hymenoptera stings (such as bees or wasps) or can be idiopathic.¹⁶

Anaphylaxis is often coupled with hypotension and can be life threatening.¹⁶

Seeing any of these hallmark symptoms may warrant suspicion of SM.¹³
High-sensitivity (<1%) KIT D816V testing can help confirm that suspicion.¹⁷

SCREEN FOR SM

*Data from a validation study of 2 patient-reported outcome measures of quality of life and symptom burden in 164 patients with indolent systemic mastocytosis.¹⁴
^†As described by an expert-panel review of adult-onset mastocytosis (predominantly indolent population).¹¹

Explore a range of signs and symptoms across
multiple organ systems for patients with SM^12,18

Select each of the cards below to learn more

Woman-slumped-in-chair-with-hand-on-head

SYSTEMIC¹²

Fatigue
Weight loss
Anaphylaxis with hypotension
Malaise

RESPIRATORY¹⁸

Dyspnea
Nasal congestion
Throat swelling
Wheezing

Body-with-outline-of-musculoskeletal-system-icon

MUSCULOSKELETAL¹²

Bone pain
Myalgia
Osteolytic lesions

SKIN¹⁸

Pruritus
Flushing
Maculopapular lesions

CARDIOVASCULAR¹²

Hypotension
Dizziness
Palpitations

NEUROPSYCHIATRIC¹⁸

Memory impairment
Brain fog
Anxiety
Migraines

GASTROINTESTINAL¹²

Nausea/vomiting
Diarrhea
Abdominal pain
Heartburn or reflux

Not an exhaustive list of all symptoms.

Symptoms may vary from person to person.

Organopathy due to mast cell infiltration can also occur, causing lymphadenopathy, splenomegaly/hypersplenism, hepatomegaly/ascites, cytopenias, or malabsorption with weight loss due to gastrointestinal mast cell infiltrates.^6,12

~9 of 10 patients

report experiencing ≥10 symptoms over the course of
their disease^1‡

Symptoms can be triggered by aspects of everyday life, including heat, stress, exercise, and food¹⁹

Heat triggered

82%

of patients^19§

Stress triggered

81%

of patients^19§

‡In a Blueprint Medicines study, US adults with a self-reported SM diagnosis (N=56) completed an online survey of 100 items, including the 12-item Short-Form Health Survey, the ISM Symptom Assessment Form, and the Work Productivity and Activity Impairment Questionnaire, as well as questions about disease impact. The results were analyzed using descriptive statistics.¹
§Based on data from 366 patients with self-reported mastocytosis or mast cell activations.¹⁹

Did you know?

Symptoms of SM can
mimic other disorders.²⁰

Identifying the key
differences can help in

making an accurate diagnosis.

EXPLORE MORE

Debilitating symptoms of SM can significantly disrupt patients’ lives¹*

In the TouchStone SM Patient Survey—developed by Blueprint Medicines in collaboration with SM physician experts and SM patient advocates—patients (N=56) reported professional, psychosocial, and psychological consequences

PROFESSIONAL

54% reported reducing work hours due to SM¹

88% reported SM impacts productivity at work^4†‡

PSYCHOSOCIAL

91% said their physical or emotional health interfered with social activities^4†§

64% reported avoiding leaving home due to SM symptoms¹

PSYCHOLOGICAL

79% reported feeling depressed and discouraged because of their disease^4†§

93% reported feeling anxious or worried about their disease^4†§

Patients with SM report a substantial delay in diagnosis¹

~6 years

Average time from symptom

onset to diagnosis¹*

In that time, patients may present to a diverse group of specialists, including^1,21:

Allergist/immunologists
Dermatologists
Gastroenterologists
Hematologist/oncologists
Endocrinologists
Primary care practitioners

Polypharmacy is common in patients with SM¹*

61%

reported taking ≥3 OTC medications

52%

reported taking ≥3 prescription medications

88%

reported being prescribed epinephrine for emergency use in the event of an anaphylactic episode

Despite polypharmacy with symptom-directed therapies, many patients still have significant symptom burden¹

*In a Blueprint Medicines study, US adults with a self-reported SM diagnosis (N=56) completed an online survey of 100 items, including the 12-item Short-Form Health Survey, the ISM Symptom Assessment Form, and the Work Productivity and Activity Impairment Questionnaire, as well as questions about disease impact. The results were analyzed using descriptive statistics.¹
†These analyses were made from the Touchstone Patient SM Survey but have not been published.
‡Out of patients employed full time/part time (n=26), 23 reported some impact to productivity. Patients were asked to select, on a scale from 0-10, whether SM affected productivity at work during a 7-day period where 10 indicated impact on work and 0 indicated no impact on work.⁴
§Patients responded “Yes” to the statement.
OTC=over-the-counter.

Learn about screening for
KIT D816V
in patients
with suspected SM

Suspect SM

SM can cause debilitating symptoms and significantly impact patients’ lives1

SM can cause debilitating symptoms and significantly impact patients’ lives¹