The information in this website is intended only for healthcare professionals. By entering this site, you are confirming that you are a healthcare professional.
The information in this website is intended only for laboratory professionals. By entering this site, you are confirming that you are a laboratory professional.
The most common physical symptoms of mastocytosis involve the skin, liver, spleen, and cardiovascular system. In the case of some chronic systemic symptoms, the gastrointestinal tract and nervous system may also be involved.6 Most patients with this disease will have itchy lesions on their skin.
The World Health Organization (WHO) has a consensus on definitions of various forms of mastocytosis and on diagnostic criteria.7
DIAGNOSIS OF SYSTEMIC MASTOCYTOSIS
Tryptase testing can measure the total level of tryptase released by mast cells into the circulation. This enables a healthcare provider to evaluate a person’s baseline tryptase level or any transient increases in the level of tryptase after a suspected allergic reaction. In healthy individuals, the tryptase baseline levels have been reported to range approximately between 1–15 μg/l.3,8
The prevalence of anaphylaxis in adults with the diagnosis of mastocytosis is reportedly as high as 49 percent, significantly higher than expected in the general population.6 In children, the risk to develop anaphylaxis is restricted to those with extensive skin symptoms and also a high baseline serum level of tryptase.6 The robustness of tryptase makes it a useful tool for confirming mast cell involvement.6 Together with clinical findings, tryptase test results can help you rule in systemic mastocytosis.
In patients with a known sensitivity to Hymenoptera (bees, yellow jackets, wasps, and hornets) venom and a history of allergic reaction, venom immunotherapy given for 3 to 5 years may induce long-term protection in most patients.10
Adding diagnostic testing to aid in a differential diagnosis has been shown to increase confidence in diagnosis to 90 percent.i,ii Conventionally, a diagnosis of allergic or autoimmune disease relies on the case history and a physical examination. However, adding diagnostic testing to aid in a differential diagnosis has been shown to increase confidence in diagnosis.i,ii Diagnostic testing can also help to improve the patient’s quality of life and productivity, reduce costs associated with absenteeism, and optimize use of medication, in addition to decreasing unscheduled healthcare visits.iii,iv
i. Duran-Tauleria E, Vignati G, Guedan MJ, et al. The utility of specific immunoglobulin E measurements in primary care. Allergy. 2004;59 (Suppl78):35-41.
ii. NiggemannB, Nilsson M, Friedrichs F. Paediatric allergy diagnosis in primary care is improved by in vitro allergen specific IgE testing. Pediatr Allergy Immunol. 2008;19:325-331
iii. Welsh N, et al. The Benefits of Specific Immunoglobulin E Testing in the Primary Care Setting. J Am Pharm Assoc. 2006;46:627.
iv. Szeinbach SL, Williams B, Muntendam P, et al. Identification of allergic disease among users of antihistamines. J Manag Care Pharm. 2004; 10 (3): 234-238
Unfortunately for healthcare providers and patients, there is no one single treatment that can be used to address mastocytosis. The main strategy is avoidance of identified triggers and allergens, such as insect stings, temperature extremes, irritation, alcohol, or medications (e.g., aspirin, radiocontrast agents, certain anesthetic agents).9
Clinical guidelines have been developed to help guide the management and treatment of patients with mastocytosis. Across practice parameters and guidelines, re-evaluation is recommended for mastocytosis, especially in young children.11 Practice parameters for the usage of allergen immunotherapy may also be a relevant resource.
Even with a specific management plan in place, symptoms may recur. Patients with a history of anaphylaxis require the most vigilant maintenance. If anaphylaxis is initiated by a known allergen, especially that of Hymenoptera venom, you will likely want to consider immunotherapy and discuss the possibility with your patients during subsequent follow-up visits.10 If symptoms persist, or if you suspect additional allergies have developed, it may be helpful to conduct further testing.