Shonna’s Summaries: Important Things to Know about Managing Mast Cell Disordersby Shonna SnyderThis blog post is the first in a new, regular series of blog posts aimed at summarizing academic journal articles, in order to provide the community with more accessible information, based on recently published scientific research, to share with their care teams. In 2022, Drs. Valent, Hartmann, Schwaab, Alvarez-Twose, Brockow, Bonadonna, et al.., published an article titled, Personalized Management Strategies in Mast Cell Disorders: ECNM-AIM User’s Guide for Daily Clinical Practice [1], in the Journal of Allergy and Clinical Immunology. The purpose of the article was to share with their colleagues the most up-to-date, research-backed strategies to use when caring for the mast cell disease patients in their practices. This blog will summarize the article and provide the TMS community with the most important things to discuss with their health care team.The authors define Mastocytosis as a, “myeloid neoplasm defined by expansion and focal accumulation of clonal mast cells (MCs) in one or more organs.” (pg. 2000)Let’s make sure we understand this statement before moving on, for it is the foundation of understanding mast cell diseases.Myeloid means related to bone marrow.Neoplasm means an abnormal growth of cells.Expansion and focal accumulation means a large amount of cells have accumulated in one area of the body, an organ for example.Clonal means cells are genetically identical to each other.When we put the definition in simple terms, we can easily state that mastocytosis occurs when genetically identical cells abnormally grow from bone marrow and accumulate in certain areas of the body.It is important to understand the basics of this disease so we can understand how it is diagnosed and what treatment options are available. It can also help us see how mastocytosis might change over time.The joint guidelines were issued by the European Competence Network on Mastocytosis (ECNM) and the American Initiative in Mast Cell Diseases (AIM) and contain vital strategies for healthcare providers about diagnosis and treatment.Systemic Mastocytosis (SM)The article provides two flow charts to help diagnose adults with suspected SM.Adults can be diagnosed with SM with or without skin lesions. The new charts help you and your medical team determine which form of SM you have based on a point system. If you do not have skin lesions, your serum tryptase levels are used to help determine the next steps in your diagnostic journey. We recommend sharing these charts with your medical team.Hereditary Alpha Tryptasemia (HaT)The authors include guidance that HaT should be seen as a biomarker for SM.The authors state that rates of HaT are relatively high among SM patients, so it is important that you are screened for this genetic trait if you are in the process of being (or have been) diagnosed with SM.Carriers of HaT are also more likely to have mast cell activation syndrome (MCAS).If you have recurrent severe mediator-related symptoms (i.e., recurrent anaphylaxis) and have not been screened for HaT, you should request this screening from your medical team.MCASYou should establish a baseline serum tryptase level to compare with an “event” serum tryptase level.The authors state having a baseline tryptase level is the best way to determine if you have MCAS. Your physician should be looking for an increase of 120%+ your baseline tryptase plus 2ng/mL during an event. An event is anytime you have mediator-related symptoms, such as anaphylaxis. This generally means that you will need to have an emergency room (ER) protocol signed by your physician to have these labs drawn during an event. See the TMS ER Response Plan!At minimum, three criteria that must be met to be diagnosed with MCAS.Symptoms need to be episodic (recurrent), severe (debilitating and/or life threatening), systemic (multiorgan), and cannot be explained by any other known disorders or conditions. This includes anaphylaxis that occurs frequently120%+ increase in serum tryptase from the baseline levelMedical treatment reduces the event response.It is important to consider the connections between SM, HaT, and MCAS. You might have all three, and knowing can lead to better treatment options may and reduce events.The article explains the five types of MCAS.Idiopathic MCAS: neither clonal (KIT D816V) mast cells (MCs) nor an underlying allergy or other reactive disease process causing MC activation can be identified.Primary: clonal (KIT D816V) MCs are detected; most have SMSecondary: non-clonal MCs detected (no KIT mutation); underlying reactive or allergic disease found (usually an IgE-dependent allergy)Combined: primary and secondary criteria are fulfilledHaT + MCAS: MCAS criteria are fulfilled and tested positive as a HaT carrierKnowing the types of MCAS can help you have a better conversation with your medical team. If you are undergoing the diagnosis, you will want to make sure that your physician is determining which type you may have. Once diagnosed, you and your team will develop a specific treatment plan.What your physician needs to knowThis article provides physicians a “user’s guide” for determining each type of mast cell disease (MCD), symptoms for each type, and algorithms and scoring sheets for determining treatments for use in their daily practice.It is a good idea to find out if your medical team knows about this article. Ask them if they have read it and/or give them a hard copy of the article or the citation for the report so they have the most up-to-date information about MCDs.Proper screening and testing is vital.You will need to converse with your medical team about multiple tests, this can be overwhelming… both the testing and the planning for the tests. But testing will help you and your team navigate the diagnostic journey and develop a plan for treatment. The authors recommend testing for HaT, KIT D816V, for a bone marrow biopsy, and a serum tryptase baseline (as well as during an event) in addition to any related tests based on symptoms to aid in finding a diagnosis.You may have triggers. Identifying them and sharing the information with your team will help with diagnosis and treatment.The authors state that “the most important therapeutic maneuver in symptomatic patients is to avoid any relevant triggering factors or conditions that may provoke a reaction” (pg. 2008). Triggers are anything that can cause you symptoms; from hives and itchiness to diarrhea to anaphylaxis. Triggers can include, but are not limited to, smells, foods, vibrations, other illnesses, or insect stings.In general, disease management plans are based on five main strategies:patient information,follow up investigations,avoidance of risk factors,prophylactic therapies (treatments meant to prevent or reduce symptoms or risks), andinterventional therapies (treatments intended to address the disease directly).As you navigate your diagnosis and treatment journey, we hope your medical team will consider all five of these strategies. Taking an active and informed role in your health care journey can aid in finding a more accurate diagnosis and a more effective treatment plan.We have summarized this article for our community because we think that it was a great addition to the literature, providing physicians with practical guidance to improve outcomes for their patients. We hope you will share this information with your medical team and that it helps with whichever part of the patient journey you are on, diagnostic or ongoing management. If you need additional help along your journey, please reach out to info@tmsforacure.org.To learn more about the article or to share the citation visit: https://pubmed.ncbi.nlm.nih.gov/35342031/[1] Valent P, Hartmann K, Schwaab J, Alvarez-Twose I, Brockow K, Bonadonna P, et al.. Personalized Management Strategies in Mast Cell Disorders: ECNM-AIM User’s Guide for Daily Clinical Practice. The Journal of Allergy and Clinical Immunology: In Practice 2022;10(8):1999–2012.e6. DOI 10.1016/j.jaip.2022.03.007
