- CASE FILE
Mast cell symptoms unresponsive to treatment. High levels of inflammation. Wide range of symptoms including bone pain, fatigue, and GI.
ABOUT THIS CASE FILE
m a 26 year old looking for answers. I was born with urosepsis that went undetected for 6 weeks, so was sick at birth. I had some weird health issues growing up, but never thought of myself as a "sick kid." These issues included frequent UTI symptoms without positive tests, strep throat ever couple years. I began having syncopal episodes in high school. I had repeat high fevers around the time of my period that were accompanied by bright red rashes on my hands and feet that eventually resolved. I also had glomerulonephritis with the fevers, as well. My pediatric records are riddled with visits for fatigue and flu like symptoms and a sleep study ruled out narcolepsy.
In 2017, I got really sick. I was nearly bed bound for two months with intense GI symptoms. A colonoscopy and endoscopy came back normal. I was having frequent syncopal episodes and my cardiologist diagnosed me with POTS via a tilt table. My GI doctor then diagnosed me with gastroparesis via a gastric emptying study. Throughout that time, I had crippling fatigue, night sweats, occasional high fever but daily low grade fever hovering between 99.9 and 100.5.
I have undergone extensive rheumatological testing because my SED rates and CRP were very elevated. I was given a preliminary diagnosis of Sjogrens Syndrome but was unresponsive to even higher dosages of methotrexate. After a second opinion at BWH, I was cleared from rheumatology.
In October, 2017, I went into anaphylactic shock very suddenly with no previous exposure. Since that time, I have been treated for mast cell disorder, unspecified. Despite a number of pharmacological interventions including cromolyn sodium, I have sever symptoms including: diarrhea unexpectedly, severe left upper quadrant pain that subsides with high doses of benadryl, face flushing, sensitivity to smells requiring use of an inhaler and mask, random hives and itching, vomiting, dizziness, bone pain and tachycardia. My CRP and SED rate remain elevated.
I had a GI biopsy show increased mast cells on CD117 staining and a bone marrow biopsy that had an insufficient sample for a mastocytosis diagnosis but that showed CD2 and CD25 mast cells. My tryptase and other mediator blood/urine tests have come back normal.
We have ruled out so many things. Because I have not responded, my doctors are wondering what else could cause these reactions outside of mast cells. Or is it some malabsorption issue that is why I am not responding to treatment options?
We ruled out: rheumatological conditions, IBD, fibromyalgia, Ehlers Danlos Syndrome, pheochromocytoma, and so many others. I have been worked up by GI, hematology/oncology, rheumatology, infectious diseases, cardiology, endocrinology, allergy/immunology. We still don't have a good plan of treatment, definitive diagnoses, and my quality of life is suffering.
I have suffered from a wide range of symptoms, too long to list. The ones that affect me the most are: fatigue, bone pain, muscle pain/weakness, severe abdominal pain, diarrhea and constipation, anaphylaxis, tachycardia (140s resting), and flushing and rashes.
Abnormal tests include: gastric emptying test (dx'd with gastroparesis), tilt table test (dx'd with POTS), consistently elevated SED rate and CRP, elevated PTH (normal calcium so no hyperparathyroidism), low vitamin D (rebounded after 2 years on 50,000 IU weekly, 1,000 IU daily), low b12 (rebounded with 4 weeks of injections, now consistently elevated despite not taking any since 2017), GI biopsy with abnormal amounts of mast cells (CD117 staining), and inconclusive bone marrow biopsy (showed CD2 and CD25 mast cells but not enough for mastocytosis).
Any thoughts? If I am not responding to mast cell treatments, could it be something else? What are we missing?