Mast cell activation syndrome

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Classification according to ICD-10
D89.- Other disorders involving the immune system, not elsewhere classified
D89.4 Mast cell activation, not specified
D89.41 Monoclonal mast cell activation syndrome
D89.42 Idiopathic mast cell activation syndrome
D89.43 Secondary mast cell activation syndrome
D89.49 Other mast cell activation disorders
ICD-10 online (WHO version 2019)

The mast cell activation syndrome ( MCAS ) is a form of Mastzellaktivierungsserkrankung ( MCAD : mast cell activation disease ). It is an immunological disorder in which mast cells inappropriately and excessively release mediators, resulting in a range of chronic symptoms that sometimes include anaphylaxis or anaphylactic / anaphylactoid shock. The main symptoms include cardiovascular, dermatological, gastrointestinal, neurological and respiratory complaints.

In contrast to mastocytosis , another form of MCAD, in which patients have a pathologically increased number of mast cells, patients who suffer from MCAS have a normal number of mast cells, but their function is impaired and they behave hyperreactively. MCAS is currently a poorly understood disease and a current subject of research.

MCAS often occurs together with Ehlers-Danlos syndrome type III (EDS type III), postural orthostatic tachycardia syndrome (POTS) and myalgic encephalomyelitis / chronic fatigue syndrome (ME / CFS) .

An association between MCAS and patients with an immunodeficiency has not yet been established, so patients with an immunodeficiency do not have an increased likelihood of developing mast cell activation disease.

Symptoms

MCAS is a disease that affects several organ systems ( systemic disease ), whereby the symptoms are mostly inflammatory. Symptoms come and go and can vary in both intensity and duration. Many symptoms correspond to those of mastocytosis , since both symptoms result from an excessive release of mast cell mediators in the organism.

Many symptoms also overlap with the clinical picture of recurrent idiopathic anaphylaxis . In addition, there are other significant symptoms, particularly rashes and angioedema .

Common symptoms

  • Dermatological
  • Cardiovascular
    • Drowsiness
    • dizziness
    • Presyncopes, syncopations
    • Arrhythmias
    • Tachycardias
  • Gastrointestinal
    • diarrhea
    • constipation
    • Cramps and malaise
    • chronic inflammation of the bladder ( interstitial cystitis )
    • Burning in the bladder and urinary tract
    • Nausea, vomiting
    • Difficulty swallowing, tightness in the throat
  • Musculoskeletal
  • Neurological
  • Respiratory
    • stuffy nose, cough, shortness of breath, asthma
    • non-allergic rhinitis with eosinophilic syndrome (NARES)
    • obstructive sleep apnea
  • Ophthalmological (sight)
  • Psychologically
    • Comorbid psychiatric and behavioral symptoms as a result of the release of mast cell mediators in the brain (anxiety, depression, mood swings, etc.)
  • Constitutional
    • generalized exhaustion and malaise
    • Food, drug, and chemical allergies or intolerances (especially fragrances)
    • Cold and heat intolerance

Anaphylaxis

If too many mast cell mediators are released in the person's body, anaphylaxis can also develop, which cause these symptoms:

  • Difficulty breathing
  • itchy rashes (hives)
  • Flush or pale skin
  • Feeling of heat
  • weak or accelerated pulse
  • Nausea, vomiting, diarrhea
  • Dizziness and fainting

Trigger

Symptoms can be triggered or exacerbated by triggers, which vary considerably and are patient-specific. The most common triggers include:

  • certain foods or drinks (especially alcohol and foods high in histamine )
  • Histamine liberators (also in the form of food additives, such as sulfites)
  • Temperature extremes and changes (heat, cold, sauna etc.)
  • Odors in the air (including perfume or smoke)
  • physical activity or exertion (e.g. exercise, gardening)
  • emotional stress
  • hormonal changes (especially during adolescence , pregnancy, or menstruation)

causes

The exact pathogenesis of the disease (causes of development) is currently unknown, but in some patients the condition appears to be inherited. Symptoms of MCAS are caused by the inappropriate and excessive release of mediators from mast cells. The mediators include B. leukotrienes or histamine . The illness can be mild and suddenly worsen considerably due to serious life events (e.g. accidents, operations, trauma , extraordinary psychological stress). In other cases there is a steady worsening of symptoms over a long period of time.

diagnosis

MCAS is often not easy to diagnose because of its heterogeneous symptoms. In addition, not all symptoms are consistently present in full, which makes diagnosis even more difficult. Another challenge is the fact that many symptoms appear ambiguous or vague. The multisystem nature of the disease means that patients often see specialists in various fields. Usually they do not receive a diagnosis until a diagnostician considers their many different complaints to be related.

The lack of awareness of many doctors (and even the open refusal to believe in the existence of the clinical picture) is currently a significant hurdle that prevents a correct diagnosis in many cases. Mast cell activation disorders were assigned an ICD-10 code in October 2016 (D89.40 together with the subtype codes D89.41-43 and D89.49).

Although there are several published diagnostic criteria, it is common to use the following commonly used criteria for diagnosis:

  1. Presence of symptoms caused by the recurring or permanent release of mediators from mast cells ( degranulation ): e.g. B. Repeated abdominal pain, diarrhea, flushing, itching, nasal congestion, cough, chest tightness, wheezing, drowsiness (usually a combination of some of these symptoms is present)
  2. Laboratory chemical detection of mast cell mediators (increased serum tryptase , N-methylhistamine, prostaglandin D2 or 11beta- prostaglandin F2alpha, leukotrienes E4 and others)
  3. Improvement of symptoms through the use of drugs that inhibit the release of mediators or promote their breakdown.

The WHO has not yet published any diagnostic criteria.

treatment

The most common drugs used are:

Fillers, binders and dyes in medicines often cause complaints in patients. The cause is not necessarily the active ingredients, but the additives mentioned. Therefore, in the event of drug intolerance, alternative compositions from other manufacturers as well as individual formulations should be considered.

Lifestyle changes may be necessary. Avoiding triggers is of fundamental importance. It should be emphasized that MCAS patients can react to any new exposure to substances, including food, beverages, medicines, microbes and smoke by inhalation, ingestion or simply by touch.

A low-histamine diet and other elimination diets can help identify foods that are causing discomfort or worsening symptoms. Many MCAS patients already have high endogenous (endogenous) histamine levels. Therefore, the intake of histamine-rich foods or histamine liberators is unfavorable, it can lead to worsening of symptoms such as vasodilation , which can lead to fainting and palpitations.

forecast

There is currently no cure for MCAS. In most patients the symptoms vary over time, in many a general deterioration occurs over the years ( progression of the disease). The life expectancy of MCAS patients appears to be normal, however the quality of life can be significantly impaired. The spectrum ranges from mild complaints to the most severe impairments. Some patients are so severely affected that the disease makes them severely disabled and unable to work.

Epidemiology

The mast cell activation syndrome is a relatively new diagnosis, which was first mentioned in 2007. Experts suspect that the disease is underdiagnosed ("probably relatively common [with] obviously increasing prevalence").

history

The disease has been mentioned in the literature for decades and its existence has been speculated; however, diagnostic criteria were first proposed in 2010. The hypothesis of the existence of the disease was postulated by pharmacologists John Oates and Jack Roberts of Vanderbilt University in 1991. The name was given in 2007, following evidence provided by Sonneck et al. and Akin et al. published.

See also

literature

Web links

Individual evidence

  1. ^ P. Valent: Mast Cell Activation Syndromes: Definition and Classification . In: Allergy . tape 68 , no. 4 , 2013, p. 417-424 , doi : 10.1111 / all.12126 , PMID 23409940 .
  2. ↑ a b c d C. Akin, P. Valent and DD Metcalfe: Mast cell activation syndrome: Proposed diagnostic criteria . In: J. Allergy Clin. Immunol. tape 126 , no. 6 , 2010, p. 1099-104.e4 , doi : 10.1016 / j.jaci.2010.08.035 , PMID 21035176 , PMC 3753019 (free full text).
  3. ↑ C. Akin: Mast Cell Activation Syndromes Presenting as Anaphylaxis . In: Immunology and Allergy Clinics of North America . tape 35 , no. 2 , 2015, p. 277-285 , doi : 10.1016 / j.iac.2015.01.010 , PMID 25841551 ( sciencedirect.com ).
  4. ^ A b c d Andrew White: A Tale of Two Syndromes - POTS and MCAS . The Dysautonomia Dispatch. Dysautonomia International, Feb. 17, 2015. Web. 12 Oct. 2015.
  5. ^ A b c Joshua Milner: Research Update: POTS, EDS, MCAS Genetics . 2015 Dysautonomia International Conference & CME. Washington DC.
  6. ↑ a b c d Lawrence Afrin: Presentation, Diagnosis, and Management of Mast Cell Activation Syndrome . ( Memento of the original from September 26, 2015 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. In: Mast Cells: Phenotypic Features, Biological Functions and Role in Immunity . Nova Science, 2013, pp. 155-232. @1@ 2Template: Webachiv / IABot / www.novapublishers.com
  7. ^ A b Lawrence B. Afrin, Sally Self, Jeremiah Menk, John Lazarchick: Characterization of Mast Cell Activation Syndrome . In: The American Journal of the Medical Science . tape 353 , no. 3 , 2017, p. 207–215 , doi : 10.1016 / j.amjms.2016.12.013 , PMID 28262205 .
  8. ↑ a b c d e f g Lawrence B. Afrin: A Concise, Practical Guide to Diagnostic Assessment for Mast Cell Activation Disease . ( Memento of the original from September 26, 2015 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. In: WJH World Journal of Hematology , 3.1, 2014, pp. 155–232. Accessed 29 January 2018 @1@ 2Template: Webachiv / IABot / www.novapublishers.com
  9. ↑ a b c d e M. Frieri: Mast Cell Activation Syndrome . In: Clin Rev Allergy . tape 54 , no. 3 , 2015, p. 353-365 , doi : 10.1007 / s12016-015-8487-6 , PMID 25944644 .
  10. ^ Stefan Wirz, Gerhard J. Molderings: A Practical Guide for Treatment of Pain in Patients with Systemic Mast Cell Activation Disease . In: Pain Physician Journal . tape 20 , no. 6 , 2017, ISSN  2150-1149 ( painphysicianjournal.com ).
  11. ^ AK Ellis, PK Keith: Nonallergic rhinitis with eosinophilia syndrome . In: Curr Allergy Asthma Rep. , PMID 16579871
  12. ↑ Markus M. Nöthen, Rolf Fimmers, Manuela Bogdanow, Britta Haenisch, Gerhard J. Molderings: Familial Occurrence of Systemic Mast Cell Activation Disease . In: PLOS ONE . tape 8 , no. 9 , September 30, 2013, ISSN  1932-6203 , p. e76241 , doi : 10.1371 / journal.pone.0076241 , PMID 24098785 , PMC 3787002 (free full text) - ( plos.org [accessed March 14, 2019]).
  13. ↑ DF Finn, JJ Walsh: Twenty-first century mast cell stabilizers . In: Br. J. Pharmacol. tape 170 , no. 1 , 2013, p. 23–37 , doi : 10.1111 / bph.12138 , PMID 23441583 , PMC 3764846 (free full text): “A diverse range of mast cell stabilizing compounds have been identified in the last decade from; natural, biological and synthetic sources to drugs already in clinical uses for other indications. Although in many cases, the precise mode of action of these molecules is unclear, all of these substances have demonstrated mast cell stabilization activity and therefore may have potential therapeutic use in the treatment of allergic and related diseases where mast cells are intrinsically involved. "
  14. ↑ Z. Weng et al .: = Quercetin is more effective than cromolyn in blocking human mast cell cytokine release and inhibits contact dermatitis and photosensitivity in humans . In: PLoS ONE . tape 7 , no. 3 , 2012, p. e33805 , doi : 10.1371 / journal.pone.0033805 , PMID 22470478 , PMC 3314669 (free full text).
  15. ↑ K Sonneck, S Florian, L Müllauer, F Wimazal, M Födinger, WR Sperr, P. Valent: Diagnostic and subdiagnostic accumulation of mast cells in the bone marrow of patients with anaphylaxis: Monoclonal mast cell activation syndrome . In: Int Arch Allergy Immunol. , 2007, 142 (2), pp. 158-164, PMID 17057414 , Epub 2006 Oct 20.
  16. ↑ C. Akin, LM Scott, CN Kocabas, N-Kushnir Sukhov, E Brittain, P Noel, DD. Metcalfe: Demonstration of an aberrant mast-cell population with clonal markers in a subset of patients with “idiopathic” anaphylaxis . In: Blood , 2007 Oct 1, 110 (7), pp. 2331-2333, PMID 17638853 . Epub 2007 Jul 16.