One cell, a hundred symptoms

Transcription

1 One cell, a hundred symptoms Ruth Slater Trustee AWARENESS, DIAGNOSIS AND TREATMENT FOR SUFFERERS OF MAST CELL ACTIVATION SYNDROME

2 MAST CELL ACTIVATION SYNDROME (MCAS) Identified: 1991 Named: 2007 Diagnostic Criteria agreed: 2011 Incorporated into ICD-10: 2016 Significant research and clinics in Germany, USA, Austria, France, Spain. but slow to be recognised in the UK 2

3 A Patient s Story She couldn t breast feed or tolerate normal formula from birth. At 2 she was hospitalised due to respiratory problems. After multiple medical tests, many of which caused an allergic reaction she could only tolerate one food: potato. It was hard to find medicines that she didn t react to, but after intensive treatment she could tolerate 10 foods. Two years later she can now eat 20 foods. She is now 5 years old. 3

4 MAST CELL ACTIVATION SYNDROME (MCAS) The Committee on Mast Cell Disorders of the American Academy of Allergy, Asthma and Immunology (AAAAI) in conjunction with The Mastocytosis Society, Inc. (TMS), have proposed new codes for MCAS in ICD-10-CM. Because MCAS, in all of its forms, can cause tremendous suffering and disability due to symptomatology from daily mast cell mediator release and may not be as rare as previously thought, it is imperative that ICD-10-CM codes be established for this group of newly defined diseases. At present time most of the patients suffering from MCAS are categorized or coded as having anaphylaxis, which not does reflect the chronic nature of their symptoms and provides no insight into their treatment and long-term management needs. 4

5 MAST CELL DISEASES ARE REAL! A genetic cause of mast cell diseases has been confirmed This work suggests that multiple alpha tryptase gene copies might underlie health issues that affect a substantial number of people Additionally, it s important to note that many people with normal tryptase levels also suffer from these problems, We hope that our study opens the door for future work to understand the cause of their symptoms as well. Lyons J, Yu X, Hughes J, et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nature Genetics

6 There is No Cure for mcas Many people do not get a diagnosis People spend years in the health system trying to finding a specialist who can help they are frequently disbelieved Treatment is targeted at stabilising mast cells and mitigating the effects of immune Mediators Wide range of off label medications that are NOT ALWAYS HIGH COST but very few nhs doctors will use them 6

7 WHAT we Can do TO stop suffering today. 7

8 ACTION / TARGET SYMPTOMS Stabilize mast cell activation / reduce mediator release (Including Immunosuppressive therapies) Kinase inhibitors Colitis Gastric complaints / Colic Interstitial cystitis Sleep disturbances Tachycardia POTENTIAL TREATMENTS H 1 -antihistamines, H 2 -antihistamines, Cromolyn, Vitamin C. (All considered first-line) Azathioprine, ciclosporine, glucocorticoids, tamoxifen, methotrexate Omalizumab, montelukast e.g. imatinib, sunitinib (variable impact for MCAS) Budesonide, prednisone PPIs / metamizole; butylscopolamine Pentosan, amphetamines Triazolam AT 1 -receptor antagonists ADAPTED FROM: Molderings GJ, Haenisch B, Brettner S, et al. Pharmacological treatment options for mast cell activation disease. Naunyn-Schmiedeberg s Archives of Pharmacology. 2016;389: doi: /s

9 A partent s story We will do anything we can to help our daughter live a normal life. Rare and undiagnosed diseases need far more support. It is hard to sit in appointments and listen to doctors say they don t know and apologise for the fact it is so hard. We need more funding to get answers. Parents need more support. And the children at the heart of this condition need to be able to live. 9

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