Validation of the REMA score for predicting mast cell clonality and systemic mastocytosis in patients with systemic mast cell activation symptoms.

BACKGROUND: A variable percentage of patients with systemic mast cell (MC) activation symptoms meet criteria for systemic mastocytosis (SM). We prospectively evaluated the clinical utility of the REMA score versus serum baseline tryptase (sBt) levels for predicting MC clonality and SM in 158 patients with systemic MC activation symptoms in the absence of mastocytosis in the skin (MIS). METHODS: World Health Organization criteria for SM were applied in all cases. MC clonality was defined as the presence of KIT-mutated MC or by a clonal HUMARA test. The REMA score consisted of the assignment of positive or negative points as follows: male (+1), female (-1), sBt <15 µg/l (-1) or >25 µg/l (+2), presence (-2) or absence (+1) of pruritus, hives or angioedema and presence (+3) of presyncope or syncope. Efficiency of the REMA score for predicting MC clonality and SM was assessed by receiver operating characteristic (ROC) curve analyses and compared to those obtained by means of sBt levels alone. RESULTS: Molecular studies revealed the presence of clonal MC in 68/80 SM cases and in 11/78 patients who did not meet the criteria for SM. ROC curve analyses confirmed the greater sensitivity and a similar specificity of the REMA score versus sBt levels (84 vs. 59% and 74 vs. 70% for MC clonality and 87 vs. 62% and 73 vs. 71% for SM, respectively). CONCLUSIONS: Our results confirm the clinical utility of the REMA score to predict MC clonality and SM in patients suffering from systemic MC activation symptoms without MIS.

Evaluation of basophil activation in mastocytosis with Hymenoptera venom anaphylaxis.

BACKGROUND: Basophil activation tests (BATs) have been demonstrated to be useful in detecting IgE-mediated sensitization by measuring basophil activation surface markers (CD63 and CD203c). Hymenoptera venom is one of the best known mediators-release trigger in patients with systemic mastocytosis (SM). The aim of this study was to investigate the use of BATs as an additional diagnostic tool in patients with mastocytosis suffering from hymenoptera venom anaphylaxis (HVA). METHODS: A total of 22 patients with history of HVA and SM, together with a group of 11 patients with HVA in whom SM was ruled out after a complete bone marrow study, were analyzed. RESULTS: Among 11 SM patients who had specific serum IgE (sIgE) against hymenoptera venom and an evaluable BAT, a positive BAT was found in nine. Additionally, a positive BAT was detected in three of seven patients who had no sIgE. These three patients had low levels of total IgE compared with control population (mean of 20 vs. 78 IU/mL); one had discontinued immunotherapy after 5 years, when sIgE levels had turned negative, and, in the other two patients, BAT identified the culprit insect. CONCLUSIONS: BAT is a useful complementary diagnostic tool to sIgE in mastocytosis patients with HVA, and it may contribute to predict or confirm these nearly fatal reactions, especially before discontinuing venom immunotherapy in patients who are negative for skin tests or sIgE or display low total IgE levels; in such cases, it also provides evidence on the culprit insect prompting HVA.

Idiopathic thoracic aortic aneurysm at pediatric age.

A 6-year-old-boy presented with epigastric pain and vomiting over 1 year. Chest X-ray and esophagogastric transit showed a mediastinal mass. A chest computerized tomography angiogram demonstrated a descending thoracic aortic aneurysm. Analytical determinations carried out were all negative. The aneurysm was surgically repaired using a Dacron patch. The anatomopathological study described atherosclerotic lesions with calcifications, compatible with an atherosclerotic aneurysm wall. Aneurysms are uncommon in the pediatric population. Usually, no pathogenesis can be determined, and thus, such cases are grouped as idiopathic. Direct repair with or without patch is a therapeutic alternative in pediatric aneurysms and can allow the growth of the aortic circumference.

[Guidelines for the diagnosis, treatment and management of mastocytosis]. / Guías clínicas para el diagnóstico, tratamiento y seguimiento de las mastocitosis.

Mastocytosis consists of a group of disorders characterized by a pathologicincrease in mast cells in tissues including skin, bone marrow, liver, spleen, andlymph nodes. Mastocytosis is a rare disease and general practitioners have limited exposure to its clinical manifestations, diagnosis, classification, and management. Moreover a complete and clear review in this field is not easy founded. Diagnosis of mastocytosis is suspected on clinical grounds and is established by histopathologic examination of involved tissues such as skin and bone marrow. The most common clinical sign of mastocytosis is the presence of typical skin lesions of urticaria pigmentosa. Most patients experience symptoms related to mast cell mediator release, and prevention of the effects of these mediators on tissues constitutes the major therapeutic goal in the management of mastocytosis. Despite recent advances in knowledge about the pathophysiology, diagnosis, and classification of mastocytosis, a curative treatment for mastocytosis does not now exist; furthermore mastocytosis is a chronic diseases with different severity grades but in all of them with an important negative impact on quality of live of patients. Management of patients within all categories of mastocytosis includes: 1. A careful counselling of patients (parents in paediatric cases) and care providers. 2. Avoidance of factors triggering acute mediator release. 3. Treatment of acute mast cell mediator release. 4. Treatment of chronic mast cell mediator release, and if indicated. 5. An attempt to treat organ infiltration by mast cells. The goal of this review is to provide a practical guide focus on diagnostic criteria for the different treatment options currently available and their management.

Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA).

BACKGROUND: Mast cells (MCs) play a key role in allergic diseases through the release of inflammatory mediators, which are responsible of allergic symptoms. Mastocytosis is characterized by an abnormal proliferation and accumulation of mast cells, in which mediators are released intermittingly or continuously. Despite these clinical similarities, few studies have addressed the presence of allergic symptoms in mastocytosis patients, including anaphylaxis. OBJECTIVE: A prospective evaluation was carried out to study the prevalence of allergic diseases in patients with mastocytosis and their impact on the natural history of mastocytosis. METHODS: A questionnaire was given to 210 patients with mastocytosis to evaluate the history of asthma, rhinitis, conjunctivitis, atopic dermatitis, urticaria and anaphylaxis. Patients underwent total IgE, Phadiatop infant (aeroallergens and food allergens), specific IgE to latex and to Anisakis simplex determinations. Skin tests were done to 72 patients. RESULTS: The prevalence of allergy, as defined by clinical symptoms associated to specific IgE, was 23.9%. Total IgE level was significantly higher in patients with allergy as compared with patients without allergy (median 58 vs. 16.5 kU/L, P<0.0001). Anaphylactic symptoms were present in 36 patients (22%), in nine the allergen was identified. Males had more allergy and anaphylactic symptoms than females (61.5% vs. 38.5% and 72% vs. 28%, respectively). CONCLUSIONS: Allergic diseases coexist in patients with mastocytosis with similar frequency as compared with the general population. Anaphylactic symptoms are more prevalent in males with mastocytosis and in patients with elevated IgE. CAPSULE SUMMARY: The prevalence of allergy in mastocytosis is similar to the general population. Anaphylactic symptoms are more prevalent in males and in patients with elevated IgE. The coexistence of atopy does not influence mastocytosis-associated symptoms.

[Endovascular therapy as an alternative treatment in chronic mesenteric ischemia]. / Tratamiento endovascular como alternativa terapéutica en la isquemia mesentérica crónica.

INTRODUCTION: Chronic mesenteric ischemia (CMI) is an uncommon disorder. Traditional treatment consists of open surgical (OS) revascularization. We report a case of CMI treated with percutaneous angioplasty and stenting. CASE REPORT: A 77-year-old-woman reported a history of postprandial abdominal pain, weight loss, asthenia, and anorexia. On physical examination, the only relevant sign was systolic murmur. Oral panendoscopy showed chronic atrophic gastritis and patchy intestinal metaplasia with Helicobacter pylori colonization; rectal sigmoidoscopy showed colonic diverticula. Abdominal ultrasound color-flow imaging confirmed superior mesenteric artery (SMA) stenosis > 70%. Angiography confirmed proximal SMA subocclusion and celiac trunk stenosis of 50%. Percutaneous angioplasty and stenting were carried out. The patient made an immediate recovery and remains without postprandial pain. DISCUSSION: CMI due to atherosclerotic occlusive disease was first reported in 1936 and is a relatively uncommon disorder. This entity usually occurs in patients over 60 years of age with other atherosclerotic symptoms. CMI presents with postprandial abdominal pain, anorexia due to <>, and weight loss. Despite high perioperative morbidity and mortality rates, OS revascularization has traditionally been the treatment of choice. The most frequent indications include pain relief, improvement of nutritional status, and prevention of intestinal infarction. Endovascular therapy seems to be a valid alternative, mainly in high-risk patients, with good immediate and medium-term results.