Typical Symptoms, Anyone?
Here, There And Everywhere
Mastocytosis affects all systems, organs and tissues of the body.
In particular, skin, liver, spleen, lymph nodes, bones and bone marrow, lungs, gastrointestinal system, eyes and blood are the most documented as adversely impacted by these diseases.
Research exists but much more needs to be done to further identify and understand the less studied effects of mast cell disorders on the heart, brain and female reproductive system.
Will You Pass Me The Menu, Please?
Signs and symptoms of Mastocytosis are many and variable per patient and between patients.
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.
So, it is as if your mast cells wake-up, grab the symptoms menu and decide which symptoms they will serve you next.
Why do the symptoms vary so much?
In a word? Permutations.
And in many words?
- There are different types of mast cells (depending on the tissue they reside in).
- Each of these types has a different set of mediators they can release.
- The tissues these mast cells reside in are different. Some mast cells are close to major organs. Others, close to nerves. Still others, close to blood vessels.
- The intensity of the release varies depending on the trigger type and amount of trigger. So your mast cells can just leak or explode.
- When the mast cells leak, they can release everything or selectively release some mediators only.
- The mast cells can be severely deformed or be borderline deformed, therefore presenting a varying level of dysfunction.
- Some patients have just one mutation, others may have more than one. Patients having more than one mutation may not all have the same mutations.
- Each mutation leads the mast cells to behave in a different way, producing different aberrant mediators, leading to different symptoms.
- And then there’s another twist that makes the situation worse yet: most of the mastocytosis patients also have mutations in other genes and proteins that are integral to mast cell function.
The Biological Permutation Math
So, you do the biology math.
These cells produce hundreds of different mediators.
One mutation leads to aberrant release of maybe not all mediators in the mast cell but probably a sizable subset.
But there are multiple mutations in most patients with mast cell disease. How any one mutation might interact with any other one or multiple mutations remains to be determined.
And there are multiple genes beyond just the one affecting mast cells that are mutated in most mast cell disease patients.
Each mediator doesn't cause just one problem. Each mediator has an entire array, a unique array, of effects – direct effects, indirect effects, local effects, and remote effects.
So, when you do all the multiplying implicit in all of this biology math, you begin to understand why this disease will present with such extreme variety of symptoms.
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.
Below is one list of 58 signs and symptoms reported to the Mastocytosis Association Canada by patients consistently over the past 10 years.
- skin lesions or sores
- skin rash, spots, redness
- persistent fatigue
- flushing & severe sweating
- joint, bone pain
- tachycardia (racing heartrate)
- eyes tearing/dry, eye pain
- persistent body/tissue pain
- difficulty exercising
- 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
- persistent diarrhea
- unexplained weight loss
- cognitive impairment
- sinus problems
- chest pain
- vision problems
- hair loss
- mouth sores
- swelling & inflammation
- odd reactions to insect stings
- anesthesia difficulties
- thyroid problems
- decreased bone density
- unexplained weakness
- shortness of breath
- sunlight sensitivity
- temperature (hot/cold) sensitivity
- difficulty with foods, drinks
- anaphylactoid reactions
- 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
- intermittent tinnitus or hearing problems
And no post on this site would be complete without a quote from the now familiar Dr. Afrin :
The constitutional issues are all over the map, including fevers and/or chills or, most commonly, neither frank fever nor frank chills but rather just a sense of feeling cold all the time. You have to ask about that specifically because if you just ask about fever and chills, they’ll often deny both.
The fatigue and malaise can be just terrible, to the point of truly utterly disabling the patient.
Unprovoked sweats (often, but not always, isolated to the evening and night hours) are another frequent symptom.
Some of these patients have anorexia, weight loss, and sometimes early satiety, usually as a result of an enlarging spleen. Much more commonly, though, we see issues not with weight loss but rather with weight gain, sometimes hugely so. I've had a number of these patients come to me after a gastric bypass which did help them lose weight but didn't address any of the myriad of symptoms they had before the gastric bypass which the surgeon never realized or chose not to address prior to surgery in spite of the much greater likelihood of there being a common problem underlying both the obesity and the plethora of other symptoms.
The pruritis can be anywhere on the scale from non-existent to atrocious.
Also, these patients not uncommonly have odd allergies such as things you wouldn't think it’s possible to be allergic to.