Anne Maitland, MD, PhD

Mast Cell (USA)

Dr. Anne Maitland is a Fellow of the American College of Allergy, Asthma and Immunology and a member of the American Academy of Allergy, Asthma, and Immunology (AAAAI). Her clinical focus is to upgrade efforts to meet the needs of under-served communities, plagued by immune-mediated disorders, such as mast cell activation disorders, such as anaphylaxis, asthma, and food sensitivities as well as primary immunodeficiencies.

She is:
• the former past Chair of the Committee for the Underserved of the AAAAI,
• a faculty member of the Allergy/Immunology division of the National Medical Association
• the Chairperson of Mast Cell Disorders of the AAAAI and faculty member of the MCA disorders subcommittee of Patient-Centered Outcomes Research Institute (PCORI) grant for patients diagnosed with a connective tissue disorder, Ehlers Danlos Syndrome (EDS). this committee is responsible for gathering and coordinating common data elements, clinical signs, and symptoms
of hypersensitivity disorders amongst EDS patients, to delineate diagnostic and therapeutic recommendations for practitioners, patients, and their caregivers.

Recent publications describe clinical phenotypes of pediatric and adult patients, coping with an emerging triad of clinical syndromes, an original C.I.N.: Connective tissue Syndromes, including Ehlers Danlos, Immune dysfunction, including mast cell disorders and Neuropathies.

Her first op-ed article focuses on the high incidence of medical errors, that can be prevented if more efforts were in place to encourage patient education and empowerment – supporting the patient-centered medical home.

https://opmed.doximity.com/articles/misdiagnoses-happen-medical-gaslighting-shouldnot?_remember_me_attempted=yes

Education
MD, Ph.D. from the University of Pennsylvania in Philadelphia, PA; Residency – Internal Medicine at the Brigham and Women’s Hospital in Boston, MA; Fellowship – Allergy & Immunology at the Brigham and Women’s Hospital and Mount Sinai Hospital in New York, NY

Certifications
American Board of Allergy & Immunology; American Board of Internal Medicine

Dr. Anne Maitland has been named one of New York Times Super Doctors, since 2012, Castle Connolly Top Doctors, Westchester Magazine Top Doctors, and one of America’s Top 21 Women’s Doctors by Lifescript.com.

Disjointed | Navigating the Diagnosis and Management of hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Diana Jovin (Editor) with: (Author), Richard Barnum M.D. Paldeep Atwal M.D. (Contributor), Linda Bluestein M.D. Pradeep Chopra M.D. (Contributor), Tania Dempsey M.D. Shanda Dorff M.D. (Contributor), Kristin Herman M.D. Matthew Hamilton M.D. (Contributor), Myles Koby M.D. Petra Klinge M.D. (Contributor), Anne Maitland M.D. Andrew J. Maxwell M.D. (Contributor), John Mitakides
D.D.S. Alan G. Pocinki M.D. (Contributor), Lila Rosenthal M.D. David Saperstein M.D. (Contributor), Jill Schofield M.D. Jordan Tishler M.D. (Contributor), Emily Block OTR/L Nancy Block P.T. and more (Contributor)
Disjointed (688 pages) is for patients with hEDS/HSD and the physicians who treat them. hEDS/HSD is an underrecognized, complex, multisystemic disorder, with the silos of healthcare’s specialties often working against effective and efficient treatment. With 21 specialist & 6 resource chapters, Disjointed brings together physician, patient, and parent perspectives to support the goal of earlier and more complete intervention.

Dysregulation of MC compartment reported in EDS Mast Cell Disorders in Ehlers–Danlos Syndrome Seneviratne SL, Maitland A, Afrin L. 2017. Mast cell disorders in Ehlers–Danlos syndrome. Am J Med Genet Part C Semin Med Genet 9999C:1–11.
Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from the surrounding microenvironment. It is the differential tissue homing and local maturation factors that result in a diverse population of resident MC phenotypes. An abundance of MC resides in connective tissue that borders with the external world (the skin as well as gastrointestinal, respiratory, and urogenital tracts). Situated near nerve fibers, lymphatics, and blood vessels, as well as coupled with their ability to secrete potent mediators, MCs can modulate the function of local and distant structures (e.g., other immune cell populations, fibroblasts, angiogenesis), and MC dysregulation has been implicated in immediate and delayed hypersensitivity syndromes, neuropathies, and connective tissue disorders (CTDs). This report reviews the basic biology of mast cells and mast cell activation as well as recent research efforts, which implicate a role of MC dysregulation beyond atopic disorders and in a cluster of Ehlers–Danlos Syndromes, non-IgE mediated hypersensitivity disorders, and dysautonomia.

AAAAI Mast Cell Disorders Committee Work Group Report: Mast cell activation syndrome (MCAS) diagnosis and management. Catherine R. Weiler, MD, Ph.D., K. Frank Austen, MD, Cem Akin, MD, Ph.D., Marla S. Barkoff, MD, Jonathan A. Bernstein, MD, Patrizia Bonadonna, MD/ Joseph H. Butterfield, MD, Melody Carter, MD, Charity C. Fox, MD, Anne Maitland, MD, Ph.D.; Thanai Pongdee, MD, S. Shahzad Mustafa, MD, Anupama Ravi, MD, Mary C. Tobin, MD, Harissios Vliagoftis, MD, and Lawrence B. Schwartz, MD, Ph.D. J ALLERGY Clin IMMUNOL October 2019. 144 (4): 883-895
Our current recommendations for diagnosing and treating primary mast cell (MC) activation syndrome make use of the latest studies and consensus guidelines for clinically recognizing systemic anaphylaxis in real-time, regardless of whether allergen-triggered or other pathways are involved; our current understanding of the biomarkers secreted by activated MCs that best discriminate this disorder from other conditions; and the therapeutic drugs that might selectively affect those mediators or MCs themselves. Finding familial or somatic mutations of genes that cause MCs to be hyperactivatable would extend our diagnostic tools and potentially indicate new therapeutic interventions, targeting either the mutated gene product or the associated molecular pathway. In conclusion, we trust that the clinical, laboratory and therapeutic criteria for primary MC activation syndromes described herein will provide clinicians with practical criteria of sufficient sensitivity.

Mast Cell Activation Disorder As A Presentation Of Primary Immunodeficiencies Anne L. Maitland, MD, PhD1, Sydney Littlejohn2, and Gigia Roizen3; 1Mt. Sinai School of Medicine, Eastchester, NY, 2Comprehensive Allergy and Asthma care, New York, 3Comprehensive Allergy and Asthma Care, New York.
RATIONALE: Mannose-binding lectin (MBL) is a protein that participates in innate immunity by targeting microbes for opsonization. MBL deficiency is present in 7% of the population and has been implicated in increased susceptibility to infections. The purpose of this study was to characterize Mast cell activation disorder (MCAD) as presenting manifestations of a primary immune deficiency (PID). METHODS: This was a retrospective study of patients referred to a community-based allergy/immunology practice for the evaluation of possible MCAD. Immunological test results included mast cells (MC) activation markers (tryptase, histamine, prostaglandin metabolites) and analyses of immunoglobulins, complement, and MBL. Past medical histories and laboratory findings were analyzed. RESULTS: Data from 14 patients (10 females), average age 40 years old, was analyzed. All patients presented MCAD symptoms: 92.8% presented immediate hypersensitivity manifestations: asthma, rhinitis, and/or hives and 15.3% among them presented anaphylaxis. 100% of patients had other MCAD symptoms; headache, flushing, itching, neurocognitive symptoms, and/or irritable bowel disease. Serum histamine and tryptase levels were within the normal range. MBL levels were deficient in all patients. 12/14 had past medical histories worrisome for possible PID, including recurrent sinopulmonary infections. Pneumococcal immunity was depressed in 71.4% of them.
CONCLUSIONS: This study highlights the presence of MCAD in patients with PID, indicating the need to screen for PID in patients presenting with immediate hypersensitivity disorders.

Immune dysfunction, both mast cell activation disorders, and primary immune deficiency is common among patients with hypermobile spectrum disorder (HSD) or hypermobile type Ehlers Danlos Syndrome (hEDS). Isabelle Brock, MD, William Reed, R-PA, and Anne Maitland, MD, Ph.D. EDS ECHO Poster presentation 2020
RATIONALE: Manifestations of immune dysfunction has been reported to be common in patients with hypermobile spectrum disorder (HSD) or hypermobile type Ehlers Danlos
Syndrome (hEDS). The purpose of this study was to characterize the spectrum immune systèm dysregulation in patients with hEDS, which can range from primary immunodeficiency disorders
(PID) to hypersensitivity syndromes, including mast cell activation syndrome (MCAS).
METHODS: This was a retrospective study of patients referred to a community-based allergy/immunology practice for the evaluation of possible mast cell activation syndrome (MCAS).
Immunological test results included mast cells (MC) activation markers (tryptase, histamine, prostaglandin metabolites) and analyses of immunoglobulins, complement, and MBL. Past medical histories and laboratory findings were analyzed.
RESULTS: Data from patients evaluated between 2014 to 2019 was analyzed. Of the 986 patients, who underwent evaluation for mast cell disorders, 168 patients were found to have had a combination of either MCAS, HSD/hEDS, or hypogammaglobulinemia, and a combination of at least two of the three diagnoses. Further analysis identified the following combinations : (1) 72/168 (42%) had HSD/hEDS and MCAS (2) 40 /168 (24%) had hypogammaglobulinemia and MCAS ; (3) 32/168 (20%) had hypogammaglobulinemia and HSD/hEDS ; and (4) 24/168 (14%)
had a combination of all three co-aggregating disorders. Moreover, these observations reveal that 76% of HSD/hEDS patients presented with an immune co-morbidity, either PID or MCAS.
CONCLUSIONS: This study highlights the presence of immune dysfunction in patients with HSD/hEDS, either MCAS, PID, or both; and these observations indicate the need to not only screen for MCAS in patients with HSD/hEDS but PID, which can present with features immediate hypersensitivity. This, in turn, will impact therapeutic approaches for an EDS patient, who presents with immunological comorbidities. Noting that fatigue and pain are common consequences of immune dysfunction, we propose that screening for both MCAS and PID should
be part of the evaluation of the initial screening of all HSD/hEDS patients.