| Session: Mast cell disease |
| Case number: 070 |
Submitter(s): Douglas E. Eglen.
Clinical history
Patient is Caucasian male, dob December 1965
Initial problems and evaluation: In 2002, DJS presented with an episode of syncope at age 36. He felt warm,weak and lightheaded .His wife called 911. When she returned he was unconscious and exhibited seizure activity. Arriving at the ER, he was hypotensive, unresponsive and had a heart rate of 30. He was intubated and regained consciousness several hours. He had no neurologic deficits. Over the next day, he had 3 episodes of abdominal discomfort, flushing radiating to his head and near syncope. An extensive work up was done including electrophysiologic monitoring, tilt table, echocardiogram, cardiac catheterization, EEG, EMG, MRI, CT, thyroid, sleep study, routine lab studies, pheo and carcinoid evaluation, GI endoscopy and consultations with cardiology, urology, neurology, gastroenterology over the next several months. Consideration was given to Ricin or thallium poisoning and myasthenia. A diagnosis of neurocardiogenic syncope was made and a permanent two lead pacemaker was placed in Indianapolis on 12/3/02. He was referred Mayo Clinic where he had additional consultations from multiple departments. He was treated with Fluorinef, beta blocker and midodrine and advised to practice aerobic activity and resistance training.
Over, the next several months, additional consultations were done locally with ENT, opthalmology, infectious disease and again neurology and GI. He was found to have an elevated total antigliadin antibody (48, normal 0-19) but normal antigliadin IgA level. Biopsies of small bowel, stomach and colon were done. A serologic panel for inflammatory bowel disease was negative. T-transglutaminase (endomysial antigen) was normal. He continued seeing an allergist who had treated him for some time for food allergies associated with 'anaphylactic' episodes. He was found to have antibodies to several molds and he had his house treated to rid it of mold at an out of pocket cost of $30,000. PMHX: He had experienced significant nephrolithiasis since his teenage years. He also gave a history of “irritable bowel” manifest as episodes of cramping, bloating, abdominal swelling and diarrhea. He had 2 episodes of documented hypokalemia. He had 5 previous episodes of syncope in the two year prior. He had been treated for anxiety and panic attacks with Zoloft. Fam Hx: The patient has a daughter age 5 with environmental allergies and food intolerances. Her tryptase level is normal. His mother has a history of diarrhea, feeling hot and flushed Diagnosis In March, 2003, his allergist ordered a tryptase and histamine level in the evaluation of his anaphylactic episodes associated with certain foods. (beef, eggs, soy, milk, carrots, sesame and particularly gelatin). The initial levels were both high (tryptase 30.4 (1.9-13.5) and histamine 179 (<100) and interpreted as being from a recent allergic reaction. His gallbladder was removed in November 2004. On repeat several months later the tryptase was elevated at 17 (2-10) and histamine normal at 35.9 (9-141). Following that, the allergist consulted with Dr. Dean Metcalf at the NIH who recommended a bone marrow exam which was done in February 2005. Splenomegaly was noted (12.8 cm) on a CT exam . A bilateral bone marrow biopsy was requested by Dr. Joseph Butterfield of Mayo clinic. This was performed by me in late August, 2005. The special stains demonstrated increased mast cells in groups and perivascular locations (CD 117 and tryptase positivity). Interval history Since then he has had rheumatologic consultation because of low bone density and possible Lyme disease (Wstern blot negative). He continues to have problems with renal stones. His current medications include magnesium, potassium, calcium, folic acid and iron, the latter which has resulted in significant improvement in his general well being in his opinion. . He was referred to Dr. Cem Akin at the University of Michigan after the diagnosis was made.
Details of gross/microscopic pathology:
bone marrow, CD 117
20 x
bone marrow, CD 117
100x
bone marrow, CD117
400 x
bone marrow, H&E
20 x
bone marrow, H&E
100 x
bone marrow, H&E
400 x
bone marrow, tryptase
100 x
bone marrow, tryptase
400 x [figure1][figure2][figure3][figure4][figure5][figure6][figure7][figure8]
Immunophenotype (flow cytometry/immunohistochemistry):
Cytogenetics:
Molecular analysis:
Interesting feature(s) of submitted case:
Proposed diagnosis:
Unknown
Panel diagnosis:
Comments:
Panel comment: additional immunostains and D816V analysis not available
Images:
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