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Not just skin: what is mastocytosis

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Not just skin: what is mastocytosis

All it takes is a mutation, even a minimal one, and off you go, the function of a cell is distorted, with consequences that you pay for yourself. And not only that, given that multiple organs, if not the entire organism, may be involved. Mastocytosis, rare but insidious and under-recognized pathology. At the base there is a gene, it is called Kit and if it mutates, an immune cell growth mechanism is triggered which triggers the disease. Today, however, there is a new molecule capable of counteracting it, Avapritinib. This was announced by scientists at a meeting in Naples organized by Blueprint Medicines. Haematologists, allergists, dermatologists, internal medicine specialists, rheumatologists, referring to the first congress twenty years ago, underlined how much there is still to discover in addition to the causes of which knowledge has greatly increased.

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The pathology

The pathology calls upon mast cells, those same cells which, identifiable throughout the organism, intervene in allergic processes, proliferating everywhere, from the intestine to the respiratory system as an army ready to take the field in our defense in the event of an attack.

Now, the Kit gene that supervises the growth of these cells can suddenly activate mast cells in an uncontrolled manner, opening the door (when correct functioning fails) to allergies, the symptoms of which are in fact the first to be found in mastocytosis. There are two very different types that characterize the disease: that of children, where the proliferation of mast cells occurs only in the skin (cutaneous mastocytosis) with an evolution that resolves spontaneously with growth, and that of adults, in which the Mastocytosis is almost always systemic. It means that in addition to affecting the skin, mast cells develop in the internal organs: gastrointestinal tract, lymph nodes, spleen and bone marrow, where its precursors originate.

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The different subtypes

And then, there are the subtypes: the one that defines “indolent” systemic mastocytosis, characterized by a growth that is not of a very high degree in which patients manifest the typical mediator symptoms, to the “advanced” ones which, despite representing only 10 percent , have a worse prognosis. Greater aggressiveness associated with another hematological disease, such as leukemia or lymphoma. “Fortunately, the majority of adult mastocytoses – he notes Massimo Triggiani, coordinator of the European Competence Network on Mastocytosis (ECNM), professor of Internal Medicine at the University of Salerno and director of Allergic Diseases and Immune System at the Ruggi d’Aragona hospital – I am of the “indolent” type, with an expectation of normal life. Indolent, but still associated with extensive symptoms related to mast cell hyperactivity. In fact, they are the producers of significant quantities of histamine, substances such as leukotrienes and other mediators typical of allergies”.

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Symptoms: itching, hives and gastro-intestinal disorders

“Skin lesions of a brownish-brown color which, once labeled as pigmentary urticaria, are now defined as maculopapular mastocytosis: very characteristic to be easily recognizable to the eye of dermatologists. – explains Triggiani – But there are not only allergic manifestations because to these are added those symptoms linked to the mediators produced: itching, classic urticaria, flushing (redness), and gastro-intestinal disorders, especially diarrhea with abdominal pain, gastritis and ulcers. Furthermore, hypotensive crises and, above all, may also be associated , episodes of recurrent anaphylactic shock. In particular, these patients may have a high sensitivity to bee and wasp stings.”

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Early osteoporosis

And, as if that wasn’t enough, there is lurking early osteoporosis, which is also frequent in males with systemic mastocytosis, because “mast cells produce some mediators that deplete the bone with fragility fractures even in young people”. In Italy as in Europe, the prevalence of mastocytosis is approximately 1 patient in 10,000 inhabitants, while it is estimated that in our country there are at least 5,000 patients with mastocytosis, not all of whom have been diagnosed. “The first suspicion for the diagnosis arises in patients who develop pigmentary urticaria, a suspicion based on the clinical observation of dermatologists or allergists who encounter abnormal allergic reactions or repeated anaphylactic phenomena. The advanced forms, however, are often identified by hematologists for symptoms associated with the expansion of mast cells in the internal organs. And therefore, anemia or other reductions in blood cells, such as platelets and white blood cells, enlarged spleen and lymph nodes.”

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How to intervene: precision medicine and targeted drugs

In the therapeutic field, molecules capable of inhibiting the mutated gene are increasingly available, but experts underline how important it is to formulate an early diagnosis to avoid going from one specialist to another. Today, precision medicine and targeted drugs work miracles, capable of counteracting advanced and aggressive forms, and also keeping mediator symptoms at bay. Triggiani again: “Clinical studies on advanced forms began first and it was seen that these drugs improve all parameters including survival, haematological complications and quality of life. In particular, avapritinib is a small molecule that binds, by blocking it, in a powerful and selective way, at the mutated Kit receptor present on the mast cell membrane. In this way spontaneous self-activation ceases, the mast cells stop proliferating and return to a state of less reactivity”. But is it a drug already provided by the National Health System? “In Italy it has been approved – replies the professor – and is reimbursed in the advanced forms of adult patients, provided they have already been treated with at least one systemic therapy. However, it is already a big step forward, even if for now limited to a narrow range of sick people”.

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