Anaphylaxis and systemic mastocytosis caused by Solenopsis invicta stings / Anafilaxia e mastocitose sistêmica ocasionada pela Solenopsis invicta

Indolent systemic mastocytosis is a rare disease characterized by an increased number of mast cells in the bone marrow and other tissues, such as the liver, spleen, lymph nodes, and skin. Patients with indolent systemic mastocytosis and high serum tryptase levels are at risk for Hymenoptera venom-induced anaphylaxis. Hymenoptera venom immunotherapy in patients with specific IgE is safe and effective. While some patients can receive ultra-rush venom immunotherapy with minimal side effects, omalizumab effectively protects against anaphylaxis during the build-up phase.

A mastocitose sistêmica indolente é uma doença rara caracterizada por um número aumentado de mastócitos na medula óssea e em outros tecidos, como fígado, baço, linfonodos e pele. Pacientes com mastocitose sistêmica indolente e altos níveis séricos de triptase correm risco de anafilaxia induzida pelo veneno dos Hymenoptera. A imunoterapia com veneno de himenópteros em pacientes com IgE específica é segura e eficaz. Embora alguns pacientes possam receber imunoterapia com veneno ultrarrápido com efeitos colaterais mínimos, o omalizumabe protegeu efetivamente contra a anafilaxia durante a fase de acúmulo.

Mastocitosis del adulto: reporte de un caso / Adult mastocytosis: a case report

RESUMEN La mastocitosis es una enfermedad heterogénea, caracterizada por una acumulación de mastocitos en uno o más órganos, siendo el más afectado la piel. Es más frecuente en niños, pero también se presentan casos en los adultos. Hay diferencias significativas entre las formas de presentación en estos grupos etarios, así como también en su evolución y pronóstico. Presentamos el caso clínico de una paciente con mastocitosis cutánea de inicio en la adultez.

ABSTRACT Mastocytosis is a heterogeneous disease, characterized by an accumulation of mast cells in one or more organs. The skin being is the most frecuently affected organ. It is more common in children, but cases also occur in adults. There are significant differences between the forms of presentation in these age groups, as well as in their evolution and prognosis. We report the case of a patient with adult-onset cutaneous mastocytosis.

Should a patient with systemic mastocytosis be vaccinated against COVID-19? / Deve um doente com mastocitose sistêmica ser vacinado contra a COVID-19?

A 26-year-old woman was referred to the allergy department for two episodes of anaphylaxis after intake of non-steroidal antiinflammatory drugs. In both episodes she was evaluated at the emergency department, and her levels of tryptase were 141 ug/L and 117 ug/L, respectively. Baseline tryptase was 92 ug/L. Bone marrow biopsy, myelogram, and immunophenotypic study were performed, confirming systemic mastocytosis. In patients with mast cell disorders, the risk of anaphylaxis after mRNA vaccine against COVID-19 has been under debate. Considering the occupational risk of COVID-19, the risk of anaphylaxis upon exposure to the vaccine was discussed with the patient and, after consent, Pfizer/BioNTech® BNT162B2 was administered under allergist supervision. No premedication was administered and both vaccine inoculations occurred without eliciting mast cell symptoms.

Mulher de 26 anos enviada à consulta de imunoalergologia após dois episódios de anafilaxia no contexto de ingestão de antiinflamatórios. Em ambos os episódios foi observada no Serviço de Urgência. Os valores de triptase nos episódios foram 141 ug/L e 117 ug/L, respetivamente. A triptase basal 92 ug/L. Realizou biópsia de medula óssea, mielograma e estudo imunofenotípico que confirmaram mastocitose sistêmica. Nos doentes com doença mastocitária, o risco de anafilaxia após administração de vacinas mRNA contra a COVID-19 tem sido debatido. Considerando o risco de exposição à COVID-19, o risco de anafilaxia após administração da vacina foi discutido com a doente e, após consentimento, a vacina Pfizer/BioNTech® BNT162B2 foi administrada sob vigilância de um alergologista. Não foi administrada pré-medicação, e a doente recebeu as duas doses da vacina sem evidenciar sintomatologia relacionada com ativação mastocitária.

Rare and unknown canine systemic mastocytosis: clinical and laboratory features of an aberrant c-Kit mutation neoplasia / A rara e desconhecida mastocitose sistêmica canina: características clínicas e laboratoriais de uma neoplasia aberrante na mutação c-Kit

Systemic mastocytosis (SM) pathology is extremely rare in canine practice, with insufficient reported data. The knowledge of the clinical behavior of this pathology is scarce. In human medicine, SM has been widely investigated, being defined as a rare hematopoietic disorder by the World Health Organization (2016), within the type of myeloproliferative neoplasms. Herein, we describe a systemic mastocytosis case in a Portuguese Serra-da-Estrela dog, where a cutaneous grade III/high-grade MCT was also diagnosed. The clinical decline of the animal and owner's insistence throughout anamnesis that the dog was markedly different after the cytologic exam performed in another clinic, along with both severe eosinophilia and hepatomegaly, led to the clinical suspicion of SM. The animal passed away 7 days later. Post-morteminvestigation confirmed SM pathology, and a deletion of 15 base pairs change on c-Kit gene exon 11 was identified. Contemplating the low number of cases described in the literature, this publication aims to disclose clinical and laboratory features of rare and poorly described canine SM, taking into consideration human outcomes described in the literature.(AU)

A patologia da mastocitose sistêmica (SM) é extremamente rara na prática clínica canina, com escassos casos descritos na literatura científica. O conhecimento do comportamento clínico desta patologia é mínimo. Na medicina humana, a SM tem sido amplamente investigada, sendo definida como uma doença hematopoiética rara pela Organização Mundial da Saúde (2016), dentro do tipo de neoplasias mieloproliferativas. Descrevemos aqui um caso de mastocitose sistêmica num cão Serra-da-Estrela português, diagnosticado também com um mastocitoma cutâneo grau III / alto grau. O declínio clínico do animal e a insistência do proprietário durante a anamnese de que o cão estava marcadamente diferente após o exame citológico realizado em outra clínica, juntamente com eosinofilia e hepatomegalia graves, levantaram a suspeita clínica de SM. O animal faleceu 7 dias depois. A investigação post-mortem confirmou a patologia SM, e o estudo molecular revelou uma deleção de 15 pares de bases no exon 11 do gene c-Kit. Contemplando o baixo número de casos descritos na literatura, o objetivo desta publicação é divulgar características clínicas e laboratoriais de SM canina, levando em consideração informações clínicas descritas em humanos.(AU)

Escabiose mascarada por mastocitose sistêmica / Scabies masked by systemic mastocytosis

Paciente do sexo feminino, com 59 anos de idade, portadora de mastocitose sistêmica há 20 anos. A mastocitose é doença rara, caracterizada pela proliferação excessiva e o subsequente acúmulo de mastócitos em órgãos e tecidos, principalmente na medula óssea, pele e no trato gastrointestinal. Há 1 mês, relatava história de novas lesões cutâneas caracterizadas por pápulas e placas eritemato-edematosas com escoriação e intenso prurido. Feito o raspado da pele com confirmação diagnóstica de escabiose.

A 59-year-old female patient had a diagnosis of systemic mastocytosis for 20 years. Mastocytosis is a rare disease characterized by excessive proliferation and accumulation of mast cells in organs and tissues, especially in the bone marrow, skin and gastrointestinal tract. She reported new skin lesions characterized by erythematous papules and plaques with excoriation and intense itching for one month. Skin scraping confirmed the diagnosis of scabies.

Uma visão atualizada da anafilaxia idiopática: a ausência de evidência não é a evidência de ausência / An updated view of idiopathic anaphylaxis: absence of evidence is not evidence of absence

A anafilaxia idiopática não apresenta etiologia conhecida. A sua prevalência é estimada entre 10-35% de todas as modalidades de anafilaxia. A sintomatologia apresentada é a mesma de qualquer outra anafilaxia: urticária, angioedema, ruborização, prurido, hipotensão arterial, taquicardia, manifestações gastrointestinais (disfagia, náusea, vômitos, cólicas abdominais, diarreia), asma, edema laríngeo, tontura e síncope. A mortalidade é rara. Não há transmissão genética, mas 40% dos pacientes são atópicos. É mais frequente nos adultos do que nas crianças, e principalmente em mulheres. É um diagnóstico de exclusão. Ocorre ativação mastocitária com desgranulação citoplasmática dos mediadores de anafilaxia (triptase, histamina, entre outros). É uma anafilaxia com boa resposta aos corticoides, e, portanto, caso não haja resposta adequada a doses eficazes de prednisona/prednisolona, o seu diagnóstico deve ser revisto. O diagnóstico diferencial da anafilaxia idiopática inclui: a mastocitose sistêmica indolente, síndromes de ativação mastocitária monoclonais, alergia à galactose-alfa-1,3 galactose, anafilaxia induzida por exercícios (com e sem dependência alimentar e medicamentosa), angioedema hereditário (congênito e adquirido), feocromocitoma, síndrome carcinoide, anafilaxia oral acarina, alergia ao Anisakis simplex, disfunção das cordas vocais, síndrome escombroide, alergia ao sêmen, alergia ao látex, manifestações psicossomáticas (síndrome do pânico, globus hystericus e a síndrome de Münchausen), bem como as tradicionais e mais frequentes modalidades de anafilaxia (alergia a alimentos, medicamentos e insetos). O tratamento na crise aguda da anafilaxia idiopática é o mesmo do que nas demais anafilaxias, incluindo a administração intramuscular imediata de epinefrina. Deve haver uma generosa e prolongada prescrição de corticoterapia oral, e também a instituição de medicação preventiva (anti-histamínicos anti- H1 e anti-H2, cetotifeno, albuterol oral, montelucaste, cromoglicato de sódio, e por último o omalizumabe). Os pacientes devem portar epinefrina autoinjetora e ser instruídos sobre como agir em caso de um episódio anafilático. Eles respondem bem à administração de epinefrina. A corticoterapia oral, por 4-6 semanas, pode induzir uma remissão completa.

Idiopathic anaphylaxis is a condition of unknown etiology. Its prevalence ranges from 10 to 35% of all cases of anaphylaxis. Clinical symptoms and signs are those of classic anaphylaxis, including urticaria, angioedema, flushing, itching, hypotension, tachycardia, gastrointestinal manifestations (dysphagia, nausea, vomiting, abdominal cramps, and diarrhea), asthma, laryngeal edema, dizziness, and syncope. Mortality is rare. There is no genetic transmission, but about 40% of patients are atopic. It is more common in adults than in children, affecting mainly women. It is considered a diagnosis of exclusion of other known forms of anaphylaxis. Mast cell activation occurs with cytoplasmatic degranulation of mediators of anaphylaxis (tryptase and histamine, among others). Because idiopathic anaphylaxis is a steroid-responsive condition, if it is not controlled with adequate doses of prednisone/prednisolone, the diagnosis should be challenged. The differential diagnosis of idiopathic anaphylaxis includes indolent systemic mastocytosis, clonal mast cell activation syndromes, galactose-alpha-1,3- galactose allergy, exercise-induced anaphylaxis (both food- and drug-dependent and -independent), hereditary angioedema (congenital and acquired), pheochromocytoma, carcinoid syndrome, oral mite anaphylaxis, Anisakis simplex allergy, vocal cord dysfunction, scombroid poisoning, semen allergy, latex allergy, psychosomatic conditions (panic attacks, globus hystericus, and Münchausen syndrome), and the classic forms of anaphylaxis (food, drug, and insect allergies). Treatment of acute idiopathic anaphylaxis is the same as in the other forms of anaphylaxis, including intramuscular epinephrine, but with prolonged oral corticosteroid therapy. It might also include other oral preventive medications (H1 and H2 antihistamines, ketotifen, oral albuterol, montelukast, sodium cromoglycate, and recently omalizumab). Patients should have an epinephrine auto-injector and be instructed on self-management of anaphylaxis. Good response to epinephrine is observed, and oral corticosteroid therapy for 4-6 weeks can induce complete remission.

Osteosclerosis asociada a mastocitosis sistémica / Osteosclerosis associated to systemic mastocytosis / Osteosclerose associada a mastocitose sistêmica

La mastocitosis es una enfermedad rara que se define por la expansión anormal de los mastocitos clonales y su acumulación en distintos tejidos. Esta enfermedad afecta el esqueleto en el 50-70% de los casos. Las anomalías radiológicas son generalmente difusas y afectan predominantemente al esqueleto axial. La forma más habitual es la osteopenia. La osteosclerosis y las formas mixtas son menos frecuentes. Se presenta el caso de un paciente varón de 74 años, con osteoesclerosis asociada a mastocitosis sistémica. Se observó un incremento de los marcadores de formación y resorción, con predominio de los primeros. La densitometría ósea presentó un notable incremento y en los estudios radiológicos se observó osteoesclerosis. La biopsia ósea transilíaca evidenció infiltrados multifocales de mastocitos y fibrosis de la médula ósea. La histomorfometría mostró un incremento en los parámetros de formación y en menor grado de la resorción ósea. Se indicó loratadina, corticoesteroides, interferón alfa, calcio y calcitriol. Se observó mejoría clínica, normalización de los marcadores de remodelación y disminución de la densidad mineral ósea 30 meses después de iniciado el tratamiento. Se destaca la importancia de considerar la mastocitosis sistémica en el diagnóstico diferencial de pacientes con osteoesclerosis u osteoporosis.

Mastocytosis is a rare disease defined by abnormal clonal mast-cell expansion and accumulation in various tissues. The disease affects the skeleton in 60-70% of cases. Radiological abnormalities are usually diffuse and the lesions mainly involve the axial skeleton. Osteopenia is the most frequent form, but it can also occur as osteosclerosis or a combination of both disease expressions. In this report, a 74-year old male patient with osteosclerosis associated to systemic mastocytosis is presented. Laboratory tests showed an elevation in bone turnover markers with a greater increase in bone formation markers. Bone densitometry depicted a marked increase in mineral density and X-rays showed osteoesclerosis. A trans-iliac bone biopsy described the presence of dense, multifocal infiltrates of mast cells and bone marrow fibrosis. Bone histomorphometry showed a marked increase in bone formation and resorption parameters. Treatment with loratadine, corticosteroids, á interferon, calcium and calcitriol was initiated. The patient improved, bone turnover markers normalized and bone mineral density decreased after 30 months. The importance of considering systemic mastocytosis in the differential diagnosis of patients with osteosclerosis or osteoporosis.

A mastocitose é uma doença rara que se define pela expansão anormal dos mastócitos clonais e sua acumulação em diferentes tecidos. Esta doença afeta o esqueleto em 50-70% dos casos. As anomalias radiológicas geralmente são difusas e afetam predominantemente o esqueleto axial. A forma mais habitual é a osteopenia. A osteosclerose e as formas mistas são menos frequentes. Apresenta-se o caso de um paciente masculino de 74 anos, com osteosclerose associada a mastocitose sistêmica. Foi observado um incremento dos marcadores de formação e reabsorção, com predomínio dos primeiros. A densitometria óssea apresentou importante incremento e nos estudos radiológicos foi observada osteosclerose. A biópsia óssea transilíaca evidenciou infiltrados multifocais de mastócitos e fibrose da medula óssea. A histomorfometria mostrou um aumento nos parâmetros de formação e, em menor grau, da reabsorção óssea. Indicou-se loratadina, corticoesteroides, interferón-alfa, cálcio e calcitriol. Foi observada a melhoria clínica, normalização dos marcadores de remodelação e diminuição da densidade mineral óssea 30 meses depois de iniciado o tratamento. Destaca-se a importância de considerar a mastocitose sistêmica no diagnóstico diferencial de pacientes com osteosclerose ou osteoporose.

A Case of Systemic Mastocytosis Associated with Acute Myeloid Leukemia Terminating as Aleukemic Mast Cell Leukemia after Allogeneic Hematopoietic Stem Cell Transplantation

In up to 40% of systemic mastocytosis (SM) cases, an associated clonal hematological non-mast cell lineage disease such as AML is diagnosed before, simultaneously with, or after the diagnosis of SM. A 40-yr-old man was diagnosed with AML with t(8;21)(q22;q22). Mast cells were not noted at diagnosis, but appeared as immature forms at relapse. After allogeneic hematopoietic stem cell transplantation (HSCT), leukemic myeloblasts were not observed; however, neoplastic metachromatic blasts strikingly proliferated during the state of bone marrow aplasia, and finally, aleukemic mast cell leukemia developed. As the disease progressed, we observed serial morphologic changes from immature mast cells with myeloblasts to only metachromatic blasts and atypical mast cells as mast cell leukemia; FISH analysis showed that the neoplastic mast cells originated from the same clone as the leukemic myeloblasts of AML.

A 60-year-old lady with leonine facies: A rare diagnosis.

Systemic mastocytosis is a rare clonal disorder characterized by mast cell infiltration of one or more organs, with or without skin involvement. Leonine facies is a rare presentation and corresponds to the morphologic manifestation of diffuse dermal infiltration of the face as a result of long standing disease. Bone marrow aspiration and biopsy findings in a 60-year-old woman, who had extensive cutaneous infiltration due to systemic mastocytosis, resulting in 'leonine facies,' are described, and causes of leonine facies are discussed.

Mastocitosis sistémica: repercusión ósea / Systemic mastocytosis: bone impact

La mastocitosis sistémica es una enfermedad caracterizada por acumulación de mastocitos en varios órganos, de los cuales el más afectado es la piel. La repercusión ósea de esta enfermedad es poco frecuente y en general se la asocia al desarrollo de osteoporosis secundaria con o sin fracturas óseas. Se presentan tres pacientes con lesiones características en piel de mastocitosis y diferentes manifestaciones óseas; el primer caso es una mujer de 51 años en la que se observó una variante esclerosante muy poco frecuente, con densitometría ósea en valores normales-altos y aumento de la densidad ósea observada en varias vértebras por radiografías. Una punción-biopsia de cresta ilíaca confirmó el compromiso óseo de su enfermedad de base. El segundo caso fue una mujer de 57 años que mostró signos característicos de mastocitosis sistémica con diarreas, gastritis, flushes y reacciones cutáneas particulares ante exposición a alérgenos. Se observó además grave disminución de la densidad mineral ósea tanto en columna lumbar como en cuello de fémur con parámetros bioquímicos de aumento de la resorción ósea, por lo que fue necesario tratarla con bisfosfonatos. La tercera paciente, de 67 años de edad, presentó varias fracturas vertebrales, con densitometría ósea levemente disminuida. En esta última paciente se constató una hiperplaquetosis con diagnóstico histológico de trombocitemia esencial, cuadro que suele asociarse a la mastocitosis sistémica. En definitiva, se presentan y discuten tres variantes óseas diferentes de mastocitosis sistémica.

Systemic mastocytosis is a disease characterized by accumulation of mast cells in various organs of which the most affected is the skin. The bone impact of this disease is very rare and generally associated with the development of secondary osteoporosis with or without fractures. We present three cases of patients with skin mastocytosis lesions and different bone manifestations; the first case was a 51 year old woman in whom we observed a rare sclerosing variant with a normal-high bone density and increased density presented in several vertebrae x-rays. An iliac crest biopsy confirmed bone involvement of the underlying disease. The second case was a 57 year old woman who had characteristic signs of systemic mastocytosis with diarrhea, gastritis, flushes and specific cutaneous reactions to exposure to allergens. She also presented severe decrease in bone mineral density in both lumbar spine and femoral neck, with biochemical parameters of increased bone resorption, so had to be treated with bisphosphonates. The third patient, a 67-year-old woman, had several vertebral fractures, with slightly decreased bone densitometry. This last patient showed a hiperplaquetosis with histological diagnosis of essential thrombocythemia, a picture usually associated with systemic mastocytosis. In conclution, we present and discuss three different bone variants of systemic mastocytosis.

Manejo analgésico y anestésico en la mastocitosis sistémica: a propósito de un caso / Analgesic and anesthetic management in systemic mastocytosis: a case report

Las mastocitosis son un grupo heterogéneo de enfermedades que se caracterizan por la proliferación de mastocitos en uno o más órganos o tejidos. Se denomina mastocitosis sistémica (MS) cuando hay afectación de un tejido distinto a la piel. La MS es una enfermedad poco frecuente, cuya incidencia y prevalencia se desconocen. El manejo anestésico de estos pacientes debe considerar que muchos de los fármacos empleados pueden causar una liberación masiva de mediadores químicos mastocitarios. Se presenta el caso de una mujer con MS programada para una histerectomía total, valorando la importancia del correcto estudio preoperatorio así como la técnica anestésica y el tipo de analgesia elegida en este caso. Se presenta nuestro protocolo de actuación de cara a la cirugía en estos pacientes.

Mastocytoses are a heterogeneous group of entities characterized by mast cell proliferation in one or more organs or tissues. When tissues other than the skin are involved, the disease is called systemic mastocytosis (SM). SM is a highly infrequent disease, whose incidence and prevalence are unknown. The anesthetic management of these patients must consider the fact that many drugs can trigger massive release of chemical mediators of mast cells. We report the case of a patient diagnosed with SM who underwent total hysterectomy and discuss the importance of thorough preoperative study, as well as the anesthetic technique and type of analgesia chosen. We also report our protocol for anesthetic management in this disease.

Aggressive Systemic Mastocytosis Following Ovarian Germ Cell Tumor / 대한혈액학회지

A 4 years-old girl was diagnosed with aggressive systemic mastocytosis at 2 months after the end of chemotherapy including cisplatin, bleomycin and etoposide for an ovarian germ cell tumor (GCT). She was shown pigmented skin lesion, hepatosplenomegaly, thrombocytopenia and increased mast cells with positive toluidine blue staining on the bone marrow examination. Immunohistochemical staining for c-kit was highly expressed in the bone marrow and skin, but not in the GCT specimen. However, c-kit point mutation was detected in the bone marrow, peripheral blood and GCT tissue when performing PCR via oligonucleotide sequencing. We report here on one case of aggressive systemic mastocytosis following ovarian germ cell tumor with c-kit point mutation.