Mast Cell Diseases

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From The Mastocytosis Society Website

So... What are Mast Cell Diseases???
Mast cell diseases include mastocytosis, where the body produces too many mast cells, and mast cell activation syndrome (MCAS), where even the normal number of mast cells are too easily activated by a trigger to release their contents, called mediators. These mediators can cause a variety of unpredictable symptoms in both children and adults, including skin rashes, flushing, abdominal pain, bloating, nausea, vomiting, headache, bone pain and skeletal lesions, and anaphylaxis. Triggers can be heat, cold, stress (physical or emotional), perfumes or odors, medications, insect stings, and foods. These symptoms are treated with medications including antihistamines, mast cell stabilizers, and leukotriene inhibitors, while anaphylaxis is a medical emergency requiring epinephrine. Mastocytosis can affect skin and internal organs such as the bone marrow, gastrointestinal tract, liver, and spleen. Most patients with mastocytosis have cutaneous (skin) or indolent (benign) systemic forms, but aggressive disease can occur, which may require chemotherapy.

A diagnosis of mastocytosis is confirmed by a bone marrow or skin biopsy. MCAS patients do not fulfill all criteria for mastocytosis but exhibit symptoms, may or may not have increased measurable mast cell mediators (commonly tryptase, histamine or its metabolites) during or shortly after an attack and do respond to the same medications that patients with mastocytosis do. 


My dear friend has written a very thorough blog post including many mast cell links here, on Roo's Clues.

Another great blog I am taking my time reading through is Mast Attack - she is a scientist and has done extensive research into mast cell issues, since she suffers from them herself.

From a mast cell Facebook group:

Signs and symptoms of Mastocytosis and Mast Cell Activation Syndrome are many and variable per patient. Idiopathic Anaphylaxis patients experience many of the same symptoms, have few if any signs or indicators to explain their illness, but their dominant symptom of anaphylaxis persists.
The signs (eg.skin spots, unusual lab test results, etc.) appear due to an over-abundance of mast cells either limited to the skin or internally, or both. The symptoms occur when mast cells are triggered to degranulate. Mast cell degranulation is a normal response of the immune system trying to protect the body. However, these disorders trigger mast cell activation (ie. degranulation) with or without apparent or valid trigger. Things such as foods and drinks, extreme temperatures in water or air, emotional and physical stress - these are only a few examples - can trigger mast cell degranulation for these patients. If the patient has both an over-abundance of mast cells, in addition to having excessively active mast cells (ie. degranulating when they should not), then the symptoms and illness become more severe, prolonged and life threatening.
Some patients experience only a few symptoms, some experience many, some have all of them at various times or persistently. There is no way to fully predict what each patient will experience.
Initially, only a few signs and symptoms may be present. Especially if diagnosis takes several years, the signs and symptoms escalate in type, severity, frequency and persistence, eventually leading to permanent disability or death. Listed below are 58 signs and symptoms reported to us by patients consistently over the past 10 years.

• skin lesions or sores
• skin rash, spots, redness
• hives
• persistent fatigue
• itching
• flushing & severe sweating
• joint, bone pain
• headaches
• tachycardia (racing heartrate)
• eyes tearing/dry, eye pain
• persistent body/tissue pain
• difficulty exercising
• vertigo
• episodes of low body temperature
• unexplained Vitamin B12 deficiency
• scents/odors/chemical reactions
• difficult menses (females)
• numbness & tingling in face and extremities
• skin feels on fire
• unexplained anxiety
• sudden drops in blood pressure
• fainting
• persistent diarrhea
• vomiting
• unexplained weight loss
• cognitive impairment
• sinus problems
• chest pain
• vision problems
• hair loss
• mouth sores
• nausea
• swelling & inflammation
• odd reactions to insect stings
• anesthesia difficulties
• anemia
• thyroid problems
• decreased bone density
• unexplained weakness • shortness of breath
• sunlight sensitivity
• temperature (hot/cold) sensitivity
• difficulty with foods, drinks
• anaphylactoid reactions
• anaphylaxis
• gastrointestinal pain, bloating
• unexplained medication reactions
• enlarged liver/spleen
• liver/spleen/bladder/kidney pain
• enlarged lymph nodes
• frequent urination
• recurring infections
• neuropathic pain
• constipation (MCAS)
• iron deficiency
• unexplained bruising, bleeding
• malabsorption
• intermittent tinnitus or hearing problem
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United States:

The Mastocytosis Societyresearcheducation, and advocacy for mast cell disease patients, their families, caregivers and physicians.

23andme.com : Genetic testing and raw data that can help get to the root of your DNA and genetics. 

Livewello.com : Run your 23andme data through this site for help interpreting. also has a 'sandbox' where members have added data to help crowd source results and what they mean. SO MUCH valuable information. 

The Murray-Wood Foundation serves as support, education and as an advocate for patients and caregivers dealing with orphan diseases not limited to but including Ehlers-Danlos Syndrome, Arnold Chiari Malformation, Tethered Cord Syndrome, Syringomyelia and Mastocytosis/Mast Cell Activation Disorder as well as providing charitable giving to other non-profit organizations for research regarding said diseases.

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