1/7. A case of 'smouldering' mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val.mastocytosis is a term used for a group of disorders characterized by abnormal growth and accumulation of tissue mast cells (MC) in one or more organ systems. In patients with systemic mastocytosis (SM) the clinical course may be indolent or aggressive or even complicated by leukemic progression or an associated clonal hematologic non mast cell lineage disease (AHNMD). However, at first presentation (diagnosis) it may be difficult to define the category of disease and the prognosis. We report on a 48-year-old female patient with SM with urticaria pigmentosa-like skin lesions and mediator-related symptoms. She was found to have splenomegaly, a high infiltration grade (MC) in bone marrow biopsies (>30%), mild anemia, and a high serum tryptase level (>500 ng/ml). In addition, she exhibited discrete histologic signs of myeloproliferation in the 'non-affected' marrow and monoclonal blood cells established by C-KIT 2468A-->T mutation (Asp-816-Val) -analysis and HUMARA assay. Despite these findings, however, the clinical course was stable over years and no AHNMD or organ impairment developed. Because of the 'intermediate' clinical signs and absence of progression to aggressive disease, we proposed the term 'smouldering mastocytosis'.- - - - - - - - - - ranking = 1keywords = mastocytosis (Clic here for more details about this article) |
2/7. Shortness of breath, syncope, and cardiac arrest caused by systemic mastocytosis.During a 3-month period, a 33-year-old man presented to the emergency department on 4 occasions with dyspnea, palpitations, and syncope. His initial presentation was accompanied by acute myocardial injury and ventricular fibrillation. An extensive evaluation spanned the 3 months and included echocardiography, cardiac catheterization, electrophysiology study, tilt-table evaluation, pulmonary angiography, electroencephalography, and serum and urine analysis. diagnosis eluded clinicians until a rash was recognized to be urticaria pigmentosa, and biopsy of the rash then implicated mastocytosis. Since the initiation of pharmacotherapy nearly 5 years ago, the patient has remained asymptomatic. This case demonstrates that systemic mastocytosis can present as recurrent syncope and even as cardiac arrest. diagnosis of this rare but potentially fatal disease is made particularly challenging by its protean manifestations.- - - - - - - - - - ranking = 1keywords = mastocytosis (Clic here for more details about this article) |
3/7. Indolent systemic mastocytosis as the cause of a long history of unexplained hypotensive episodes.Assessment of patients with unexplained hypotensive episodes in outpatient practice is often challenging, with an extensive differential diagnosis. The prevalence of systemic mast cell disease (MCD) is unknown, and the diagnosis is often elusive because serum and urine markers may become positive only after one of the self-limited, recurrent hypotensive episodes. Nevertheless, MCD is increasingly recognized as a cause of unexplained hypotension, secondary osteoporosis, and anaphylactic reactions to hymenoptera stings. We describe a 38-year-old man who had a 15-year history of undiagnosed, recurrent hypotensive episodes with stereotypic symptoms. Extensive evaluation during these years was unrevealing. On physical examination, he appeared to be a healthy man with a prominent macular rash. Results of skin biopsy showed tryptase-positive mast cells. He had markedly elevated serum tryptase levels, and results of bone marrow biopsy revealed 10% mast cells; all these findings were consistent with indolent systemic mastocytosis. Key features in his history and physical examination prompted the conclusive testing. The most telling features were hypotension, tachycardia, and the rash (urticaria pigmentosa).- - - - - - - - - - ranking = 0.83333333333333keywords = mastocytosis (Clic here for more details about this article) |
4/7. Malignant mastocytosis with circulating mast cells.A case of malignant mastocytosis with peripheral blood involvement is presented. The course of the patient's illness was complicated by recurrent hypotensive episodes, presumed to have been caused by mast cell degranulation. Treatment with hydroxyurea was associated with persistent hypotension which resulted in death. It has been proposed that the diagnosis of mast cell leukemia be given to patients presenting with greater than 10% atypical mast cells in the blood. However, review of 16 published cases of malignant mastocytosis with circulating mast cells reveals that the clinical manifestations, complications, and survival do not vary significantly with the percentage of peripheral blood mast cells. patients with malignant mastocytosis with significant involvement by atypical mast cells in the bone marrow and peripheral blood should be considered as having an aggressive disease, regardless of the percentage of circulating mast cells.- - - - - - - - - - ranking = 1.1666666666667keywords = mastocytosis (Clic here for more details about this article) |
5/7. Massive histamine release in a patient with systemic mastocytosis.We have measured plasma histamine concentrations, systemic vascular resistance, cardiac output and arterial pressure during laparotomy in a patient with systemic mastocytosis. The patient developed vasodilation and hypotension during surgery, associated with a massive increase in plasma histamine concentration.- - - - - - - - - - ranking = 0.83333333333333keywords = mastocytosis (Clic here for more details about this article) |
6/7. Hazards in operative management of patients with systemic mastocytosis.During the past two years, six patients with systemic mastocytosis have required general or regional anesthesia for operative correction of various surgical problems. mastocytosis constitutes an extremely difficult problem in diagnosis and management. A large experience with patients with mastocytosis in the Vanderbilt Medical Center in the last decade has enhanced awareness of this disorder and increased its early recognition. The hazardous problems of systemic mastocytosis and the difficulties of its diagnosis and management are summarized and focussed on the increased hazard of those patients with this disease who require various surgical operations. Close collaboration between anesthesiologists, surgeons, and internists in this medical center in the past two years has made it possible to carry six of these patients through anesthesia, operation, and the postoperative period safely and without fatality.- - - - - - - - - - ranking = 1.1666666666667keywords = mastocytosis (Clic here for more details about this article) |
7/7. Intervention with epinephrine in hypotension associated with mastocytosis.The occurrence of the episodes of vasodilatory hypotension can be a life-threatening manifestation of systemic mastocytosis. This article describes the reversal by epinephrine of episodes of severe hypotension in two hospitalized patients with mastocytosis. Recognition of the efficacy of epinephrine in hypotension associated with mastocytosis can be important when other methods fail to restore hemodynamic stability.- - - - - - - - - - ranking = 1.1666666666667keywords = mastocytosis (Clic here for more details about this article) |