Mast Cell Disorders

Mastocytosis

Mastocytosis: overproduction of mast cells in the bone marrow +/or other organs (GI tract, skin, liver, etc.) Tryptase is >/= 20. Usually managed by both Allergy and Heme/Onc, sometimes requires chemotherapy, other times just needs to be monitored. Can have severe reactions to bee/wasp/hornet/fire ant stings and may require venom shots.

Mast Cell Activation Syndrome (MCAS)

Mast Cell Activation Syndrome (MCAS): normal number of mast cells, but overreact to specific allergens or for no specific reason. Tryptase < 20. Much more difficult to diagnose than mastocytosis in most cases as laboratory tests can be normal at baseline and only increase during flares. Symptoms must fit a particular pattern and respond to therapy in order to qualify for diagnosis, chronic symptoms (i.e. isolated chronic fatigue) do not meet criteria. A vast number of alternative diagnoses can mimic MCAS, so adequate work up includes evaluation for these diagnoses.

Mast Cell Mediated Events

Mast cell mediated events: symptoms do not meet criteria for MCAS or mastocytosis, but may be caused by abnormal activity of mast cells. E.g. hives/dermatographia, food allergy, significant seasonal allergies, idiopathic anaphylaxis.

Conditions that can be seen with MCAS but their presence does NOT guarantee MCAS and vice versa:

Hereditary Alpha Tryptasemia

Hereditary Alpha Tryptasemia: due to duplications or triplications of the alpha (or beta) tryptase gene. Tryptase can range from 6 -> 19. However, tryptase can be elevated (>/= 11.5) and patients may not have symptoms of MCAS, where as others have a normal tryptase (< 11) with symptoms of MCAS. Family members can have completely different/lack of symptoms while others are very symptomatic. Associated with IBS, gum issues, and joint pain. No dangerous conditions or cancers have been found to be associated with this condition at this time.

Ehlers Danlos Syndrome (EDS)

Ehlers Danlos Syndrome (EDS): More often, these patients have mast cell mediated events (like hives or dermatographia). Characterized by joint hypermobility usually, some forms can have vascular issues.

Postural Orthostatic Tachycardia Syndrome (POTs):

Postural Orthostatic Tachycardia Syndrome (POTs): Like EDS, usually have mast cell-mediated events. If MCAS is present, therapy for MCAS usually does not treat POTs symptoms, thus co-management with Cardiology or Neurology is necessary.

Small Fiber Neuropathy and Autonomic Dysfunction in General

Small Fiber Neuropathy and Autonomic Dysfunction in general: Again, usually  have mast cell mediated events. If MCAS is present, MCAS therapies do not help with the neurologic/autonomic dysfunction symptoms, thus co-management with Neurology is necessary.

Things that are NOT suggestive of MCAS:

Chronic fatigue with occasional hives or diarrhea.

Chronic fatigue with occasional hives or diarrhea. This does not fit the 2 organ systems being affected at one time because the chronic fatigue does not resolve (resolution required).

Chronic diarrhea without another organ system being involved most episodes.

Chronic diarrhea without another organ system being involved most episodes (i.e. only occasionally/never has flushing, shortness of breath, hives, etc.) This is often irritable bowel syndrome (IBS) which research has shown can sometimes be mediated by mast cells and improved by mast cell medications, but it is NOT suggestive of MCAS.

POTs, EDSs, small fiber neuropathy that with occasional hives.

POTs, EDSs, small fiber neuropathy that with occasional hives. Again, have to have episodes affecting 2 organ systems at once that eventually resolve on their own or with MCAS medications.

Vocal Cord Dysfunction (VCD) without MCAS symptoms.

Vocal Cord Dysfunction (VCD) without MCAS symptoms. VCD attacks can often be misinterpreted as allergic reactions/MCAS attacks (and can be a comorbid condition of MCAS). However, if the shortness of breath/throat tightness is not improved with epinephrine or MCAS medications, then those symptoms are not due to MCAS. IT IS VITAL THAT IF VCD IS SUSPECTED (regardless of an MCAS diagnosis) THAT IT IS TREATED WITH SPEECH THERAPY. It is a condition that can severely limit quality of life and has to be addressed promptly. IT SHOULD NOT BE SOLELY ATTRIBUTED TO ANXIETY AND IT WILL NOT BE VIEWED AS SUCH AT OUR OFFICE.

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Windom Allergy, Asthma & Sinus
Food Allergy Center of Florida