September 2014: Post summaries and take home points

Estrogen and progesterone have many functions in the reproductive system and outside of the reproductive system.
The activity of progesterone is amplified by estrogen.
Estrogen levels can make cells more responsive to progesterone.
Mast cells express receptors for both estrogen and progesterone.
Estrogen and progesterone both induce mast cell degranulation individually.
Estrogen and progesterone together induce more mast cell degranulation.
During pregnancy, secretion of histamine by uterine mast cells is induced.
Mast cell degranulation increases uterine contractility.
Allergic reactions can induce uterine contractions.
Severe allergic reactions may be responsible for pre-term labor.
Asthmatic pregnant women are at higher risk of pre-eclampsia.
30-40% asthmatic women have more symptoms during premenstrual period.
Women taking hormone replacement have higher risk of new onset asthma.
Many women with mast cell disease report more degranulation when menstruating.
A 2011 study found that only 6.7% of women with SM delivered prematurely, compared to 7.4% in the general population.

First named in 2006.
Refers to having increased mast cells in the GI tract mucosa.
Usually causes chronic diarrhea and abdominal pain.
Increase in mast cells not associated with SM or CM.
The original paper defined mastocytic enterocolitis as more than 20 mast cells/hpf.
However, there is not a consensus on what is a “normal” amount of mast cells in the GI mucosa.
Some healthy controls have more than 20 mast cells/hpf.
Some MCAS patients have mast cell counts in GI tract of 17-23/hpf.

80% of SM patients experience GI symptoms.
11% have GI bleeding.
Abdominal pain in SM is usually either upper abdominal pain or lower abdominal cramping.
23% of SM patients have peptic ulcer disease.
85-100% of SM patients have elevated histamine production.
Some SM patients produce too much acid, some too little, and some normal amount.
In those who overproduce, the levels can be extremely high.
28% of SM patients have esophageal abnormalities.

MCAD (mast cell activation disease) is a catch-all term for mast cell disease.
MCAS (mast cell activation syndrome) is the diagnosis you get if you have evidence of elevated mediator release but don’t meet the criteria for other mast cell diseases.
If you have UP: you have UP, you have CM, you have MCAD.
If you have TMEP: you have TMEP, you have CM, you have MCAD.
If you have SM: you have SM, you have MCAD.
If you have SM with UP: you have SM with skin involvement, you have UP, you have MCAD.
If you have SM with TMEP: you have SM with skin involvement, you have TMEP, you have MCAD.
If you have SM-AHNMD: you have SM-AHNMD, you have MCAD.
If you have ASM: you have ASM, you have MCAD.
If you have MCL: you have MCL, you have MCAD.
If you have MCAS: you have MCAS, you have MCAD.

Syncope (fainting) affects 14.3% of mastocytosis patients.
6% had back pain.
Compression fracture is a common cause of back pain.
35% had headaches.
Some mastocytosis patients have migraines.
Trigeminal neuralgia has been reported in some patients.
3% of mastocytosis patients develop multiple sclerosis, compared to 0.1% of the general population.

Diarrhea or constipation can affect mast cell patients.
In one study, 57% of SM patients reported at least two pseudoobstructions a year.
Bowel retraining is a good option for managing chronic constipation.
People with chronic constipation may have pelvic floor dysfunction.
Pelvic floor PT may help.
Anorectal manometry and bowel transit time tests are helpful for identifying a cause for constipation.
Straining to stool causes long term nerve damage, hemorrhoids, bleeding and fissures.
Bowel obstructions can cause rupture and are serious.
Many mast cell medications slow GI motility, complicating the constipation issue.

A number of conditions present similarly to mast cell disease.
Carcinoid tumors are slow-growing neuroendocrine tumors that may release excessive serotonin.
Carcinoid syndrome is diagnosed with a 24-hour urine test for 5-HIAA, a metabolite of serotonin.
Pheochromocytomas are neuroendocrine tumors of the adrenal gland that secrete a lot of norepinephrine.
Pheochromocytoma is diagnosed with 24-hour urine test for catecholamines and metanephrines.
Medullary thyroid cancer produces excessive calcitonin.
Medullary thyroid cancer is diagnosed by serum calcitonin.
Dysautonomia is an inherent dysfunction of the autonomic nervous system, which can cause wide ranging symptoms.
Dysautonomia can be secondary to another condition, like mast cell disease, or a primary condition.
Primary asthma can cause airway symptoms.
Vocal cord dysfunction can cause airway obstruction.
Angioedema causes swelling of any part of the body. It can be hereditary or not.
Irritable bowel syndrome is a diagnosis of exclusion.
Mast cell disease is often mistaken for anxiety or panic attacks.

A type of anemia that causes abnormal destruction of red blood cells.
This causes the body to break down more hemoglobin than usual.
Can cause high concentration of reticulocytes (immature red cells) in the blood.
Can have many causes, including genetic issues, certain infections, and autoimmune disease.
Diagnosed with blood smears. Further testing can reveal specific type.
Transfusions can be required in severe cases.
If autoimmune, long term steroids or spleen removal are sometimes necessary.