AB52 Abstracts
FEBRUARY 2023
157 Symptomatology and Diagnostic Journey of
FRIDAY
Patients Diagnosed with Systemic
Mastocytosis in The US Oncology Network
Teresa Green1, Erin Sullivan, PhD1, Charles Daddona, BS1, Nicole Nieh-
off, PhD2, Kerri Miller, PharmD1, E Susan Amirian2, Ira Zackon, MD2;
1
Blueprint Medicines, 2Ontada.
RATIONALE: Systemic mastocytosis (SM) is a rare disorder character-
ized by severe and unpredictable symptoms across multiple systems.
Understanding symptoms and the diagnostic journeys of patients with SM
provides insight into clinical management. Here we describe the symp-
tomatology and diagnostic journey of SM patients, focusing on smol-
dering/indolent (non-advSM), diagnosed in The US Oncology Network
(USON).
METHODS: EHR data from the USON were used to identify adults
diagnosed with SM from January 2010-May 2021. Data were manually
abstracted. Descriptive statistics were utilized to summarize patient
attributes.
RESULTS: Of 33 identified patients, 17 were diagnosed with non-advSM
and 16 with advanced SM (advSM). Compared to advSM patients, higher
proportions of non-advSM patients were younger (65% vs 19% <65 years),
female (82% vs 44%), and had higher baseline BMI (median: 28.8 [IQR:
27.1-32.2] vs 24.8 [IQR: 23.0-28.9]). Overall, 47% of non-advSM patients
were referred to a USON specialist due to systemic symptoms (vs 44%
advSM). Approximately 65% of patients reported dermatological symp-
toms (vs 44% advSM), 24% reported respiratory symptoms (vs 6%
advSM), and 47% reported gastrointestinal symptoms (vs 31% advSM).
Average number of symptoms per patient was 3.9 (SD: 3.4), vs 2.6 (SD:
2.6) for advSM. Almost 12% of non-advSM patients were diagnosed by
allergists (vs 6% advSM). Generally, the diagnostic journey was longer for
non-advSM vs advSM patients.
CONCLUSIONS: This retrospective study adds to the limited existing
literature on this rare condition. An improved understanding of patterns in
patient profiles and symptoms may help clinicians to make more timely
diagnoses.
158 Evaluation of Salivary Tryptase As A Biomarker
For Mast Cell Burden And Activation
Sara Ellingwood, MD1, Rajan Ravikumar, MD FAAAAI1, Charles Schu-
ler, MD1, Christopher Launius1, Bridgette Kaul1, Cem Akin, MD PhD
FAAAAI1; 1University of Michigan.
RATIONALE: Serum tryptase is a surrogate marker of mast cell burden
and activation. We hypothesize salivary tryptase may serve as a novel
biomarker for mast cell disorders and a diagnostic marker of failed food
challenges in food allergic patients.
METHODS: Adult patients were recruited for a prospective, two-arm,
observational study analyzing the relationship between serum and salivary
tryptase. Arm 1 includes subjects with Mastocytosis, Hereditary alpha
Tryptasemia (HaT), and a control group with normal serum tryptase levels.
Arm 2 includes subjects with a food allergy diagnosis undergoing open oral
food challenges (OFC). Baseline serum and salivary tryptase levels are
collected from all subjects for correlational analysis. Subjects in Arm 2
have salivary tryptase levels collected 5- and 30- mins and repeat serum
tryptase collected 30 to 240 mins following a completed or failed OFC.
RESULTS: To date, results from 6 subjects in Arm 1 (1 with systemic
mastocytosis, 1 with HaT, and 4 healthy controls), yielded undetectable
salivary tryptases (<1.00 ng/ml). One healthy control had a detectable
salivary tryptase of 1.79 ng/ml. Preliminary results from 2 subjects in Arm
2, who successfully passed their OFCs, yielded undetectable salivary
tryptases at all time points.
CONCLUSIONS: Initial data suggests salivary tryptase does not correlate
with baseline serum tryptase as a marker of mast cell burden. In addition,
patients who do not react to OFCs do not display a non-specific rise in
salivary tryptase, setting a rationale for analysis of patients who react to
OFCs. Data collection is ongoing to draw further conclusions.
J ALLERGY CLIN IMMUNOL
159 Evaluating the Relationship of Skin Involvement,
Gender and Anaphylaxis in Mastocytosis
Ryan Din, MD1, John Runge, MD1, Rayan Kaakati, MD2, Cem Akin, MD
PhD FAAAAI3; 1University of Michigan Medical School, 2UNC, 3Univer-
sity of Michigan.
RATIONALE: Mastocytosis is associated with an increased risk of
anaphylaxis. However, there is limited understanding of the clinical factors
that predispose patients to anaphylaxis. We analyzed mastocytosis patients
with and without skin lesions and observed gender differences to determine
predictors of anaphylaxis.
METHODS: We conducted a retrospective study of 159 adult mastocy-
tosis patients (55 males, 104 females) at our institution for clinical factors
associated with anaphylaxis. Patient records were reviewed for skin
involvement, skin biopsy results, and occurrences of anaphylaxis.
RESULTS: Of 159 mastocytosis patients, 113 (71.0%) had skin involve-
ment. Of these, 27 (23.9%) had at least one episode of anaphylaxis. In
contrast, of the 46 patients without skin lesions, 25 experienced
anaphylaxis (54.3%, RR 5 2.27, p50.0004). 43 out of 104 females had
anaphylaxis (41.3%), whereas 9 out of 55 males had anaphylaxis (16.4%,
p50.003). A logistic regression was performed to assess for predictors of
anaphylaxis. The absence of skin lesions was significantly associated with
an outcome of anaphylaxis (adjusted odds ratio 5 3.90, CI 1.85-8.44,
p50.0004). Female gender was also associated with higher risk of
anaphylaxis (adjusted odds ratio 5 3.72, CI 5 1.65-9.15, p50.002).
CONCLUSIONS: These data indicate that in mastocytosis patients, lack
of skin involvement and female gender are significantly associated with
anaphylaxis.
160 Real-world chart pull data on the clinical
presentation and diagnosis of indolent
systemic mastocytosis
Simon Blanc, MD1, Theresa Green, MSPH2, Erin Sullivan, PhD2, Charles
Dadonna, BS2, Brandon Wang1, J. Hunter Lambert1, Robert Smith, MD1;
1
Integra Connect, 2Blueprint Medicines.
RATIONALE: Systemic mastocytosis (SM) is a clonal mast cell
neoplasm that is driven by KIT D816V mutation in ;95% of adults with
SM. Indolent systemic mastocytosis (ISM) is a mast cell disease
characterized by debilitating neurologic, musculoskeletal, gastrointestinal,
and cutaneous symptoms and poor quality of life (QoL). The objective of
this study was to characterize the symptom burden of patients with ISM.
METHODS: Oncologists affiliated with Integra Connect were asked to
complete a structured electronic case report form (eCRF) for patients
diagnosed with ISM within the past 36 months.
RESULTS: A total of 45 eCRFs were collected in July/August 2022 from
14 oncologists in the United States. Common co-morbid conditions
included anxiety (38%), cardiovascular conditions (29%), and depression
(27%). Patients with ISM were most often referred to the participating
oncologists by dermatologists (29%), immunologists/allergists (29%), and
primary care physicians (20%). The signs and symptoms occurring in more
than 40% of patients at diagnosis included fatigue/tiredness (73%),
flushing (69%), pruritus (69%), maculopapular cutaneous mastocytosis
(60%), abdominal pain (53%), bloating (49%), headaches (49%), anxiety
(47%), abdominal cramping (44%), diffuse pain in long bones (44%),
diarrhea (42%), and nausea (40%). In addition, 30% of patients presented
with allergic reactions and 11% with anaphylaxis.
CONCLUSIONS: This study demonstrated that patients with ISM present
with multiple signs and symptoms and co-morbid conditions and are
referred by a wide range of specialties. Increasing the awareness of ISM
signs and symptoms and can help improve the recognition of the disease
and decrease the time to diagnosis.