Tryptase detection in bone-marrow blood: A new diagnostic tool in systemic mastocytosis
ABSTRACT The condition mastocytosis includes a heterogenous group of disorders that are characterized by abnormal growth and accumulation of mast cells. The detection of serum tryptase, an essential mast cell enzyme, is a widely used tool in the diagnosis of mastocytosis. The diagnosis of systemic mastocytosis is substantially based on the histologic examination of bone-marrow biopsy specimens.
We hypothesized that the detection of tryptase in bone-marrow blood might provide additional, more sensitive information on the bone-marrow involvement of patients with mastocytosis.
Serum tryptase was monitored in patients with cutaneous symptoms (n = 17), patients with extracutaneous symptoms (n = 16), and healthy control subjects (n = 359). Bone-marrow biopsy specimens of patients with systemic mastocytosis (n = 7) and control subjects (n = 7) were investigated histologically and bone-marrow blood of these individuals was analyzed on the tryptase levels.
We could detect for the first time significantly elevated tryptase levels in bone-marrow blood of patients with systemic mastocytosis. Secondarily we could present a clear correlation between the level of serum tryptase and the clinical symptoms of mastocytosis.
With the present study, we establish a new diagnostic tool for systemic mastocytosis. Unfortunately, we can only present a limited number of cases, since systemic mastocytosis is a rare disease involving few patients.
Our results indicate that the measurement of tryptase in bone-marrow blood is a new, sensitive marker of the mast cell burden in bone marrow of patients with systemic mastocytosis.
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ABSTRACT: To compare the clinical presentation of systemic anaphylaxis to Hymenoptera and Diptera with regard to basal serum tryptase (BT) and to evaluate mastocytosis in patients with elevated tryptase. The medical records of 140 patients with a history of a systemic reaction to venom were retrospectively reviewed. Symptoms and severity of anaphylaxis and BT were recorded. Most patients with elevated tryptase were screened for mastocytosis: a dermatological examination with a skin biopsy was performed in 19 cases and a bone marrow biopsy in 14 cases. Tryptase was elevated in 23 patients. These patients reported fewer usual skin reactions (urticaria in 26.1% of cases with raised tryptase vs. 76.1% of cases with normal tryptase), more flushing (52.2% vs. 4.3%) and frequently did not present skin reaction (26.1% vs. 9.4%). They presented a more severe reaction (mean grade of severity: 3.48 vs. 2.69). Mastocytosis was diagnosed in seven patients with elevated tryptase: indolent systemic mastocytosis in six cases and cutaneous mastocytosis without systemic involvement in one case. In five cases, mastocytosis was previously undiagnosed. Lesions of cutaneous mastocytosis, diagnosed in five patients, consisted of urticaria pigmentosa in all cases and were often inconspicuous. These results demonstrate particular clinical features of the allergic reaction in patients with elevated BT and the higher frequency of mastocytosis in this population. In patients with a severe anaphylactic reaction without urticaria, but with flushing, tryptase should be assayed and an underlying mastocytosis should be considered.Clinical & Experimental Allergy 04/2009; 39(5):717-25. DOI:10.1111/j.1365-2222.2009.03210.x · 4.32 Impact Factor
Article: Systemic Mastocytosis[Show abstract] [Hide abstract]
ABSTRACT: Systemic mastocytosis (SM) is a clonal disorder of hematopoietic system characterized by abnormal growth and accumulation of mast cells in various tissues. Its clinical spectrum ranges from mild disease to an aggressive course with life-threatening conditions. Some of the clinical signs or symptoms of SM (hyperhidrosis, syncope and hypotensive/tachycardiac attacks) require consideration of pheochromocytoma and carcinoid syndrome in the differential diagnosis. The diagnosis relies on the demonstration of mast cell aggregates in bone marrow or extracutaneous tissues. The World Health Organization categorizes SM into 6 variants: indolent SM, SM with associated clonal hematological nonmast cell lineage disease, aggressive SM, mast cell leukemia, mast cell sarcoma and extracutaneous mastocytosis. Patients with indolent SM have a favorable prognosis with a life expectancy comparable with the healthy population, and symptomatic treatment is usually sufficient. However, more aggressive forms may be life threatening, and cytoreductive treatment is indicated in most cases.The American Journal of the Medical Sciences 05/2011; 342(5):409-15. DOI:10.1097/MAJ.0b013e3182121131 · 1.52 Impact Factor
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ABSTRACT: Mastocytosis is an orphan disease rarely encountered by practicing anesthesiologists. Children with mastocytosis often present for procedures or surgery requiring anesthesia. Because many of the medications commonly used in pediatric anesthesia have been reported to initiate mast cell activation, parents are often very anxious about their child's perioperative experience. Laboratory investigations of serum histamine assays associated with different anesthetic drugs have not been shown to predict mast cell degranulation in these patients. However, the pediatric literature suggests that children with disease limited to the skin rarely suffer serious side effects from anesthesia, and there are no reported fatalities. Preoperative prophylaxis is usually based on expert opinion and case reports. Detailed tables summarizing reports of anesthetic medications used for children with mastocytosis undergoing anesthesia, reported side effects, and suggested prophylaxis regimens are included in this review.Journal of Anesthesia 02/2013; 27(4). DOI:10.1007/s00540-013-1563-2 · 1.12 Impact Factor