Zanotti Roberta, Tanasi Ilaria, Bernardelli Andrea, Orsolini Giovanni, Bonadonna Patrizia
Hematology Unit, Department of Medicine, Azienda Ospedaliera Universitaria Integrata di Verona, 37134 Verona, Italy.
Gruppo Interdisciplinare per lo Studio della Mastocitosi (GISM), Azienda Ospedaliera Universitaria Integrata di Verona, 37134 Verona, Italy.
J Clin Med. 2021 Apr 1;10(7):1420. doi: 10.3390/jcm10071420.
Bone marrow mastocytosis (BMM) represents a provisional, indolent subvariant of systemic mastocytosis (SM). Utilizing WHO criteria, BMM requires bone marrow (BM) involvement and the absence of mastocytosis skin lesions. BMM is characterized by male sex prevalence, a slight increase of serum tryptase levels, low BM mast cells (MC) burden, and an indolent clinical course. BMM shows a strong correlation with severe anaphylaxis, mainly due to an IgE-mediated allergy to bee or wasp venom and, less frequently, to unexplained (idiopathic) anaphylaxis. Furthermore, BMM is often associated with osteoporosis which could be the only presenting symptom of the disease. BMM is an undervalued disease as serum tryptase levels are not routinely measured in the presence of unexplained osteoporosis or anaphylaxis. Moreover, BMM patients are often symptom-free except for severe allergic reactions. These factors, along with typical low BM MCs infiltration, may contribute to physicians overlooking BMM diagnosis, especially in medical centers that lack appropriately sensitive diagnostic techniques. This review highlights the need for a correct diagnostic pathway to diagnose BMM in patients with suspected symptoms but lacking typical skin lesions, even in the case of normal serum tryptase levels. Early diagnosis may prevent potential life-threatening anaphylaxis or severe skeletal complications.
骨髓肥大细胞增多症（BMM）是系统性肥大细胞增多症（SM）的一种暂时的、惰性的亚型。根据世界卫生组织（WHO）的标准，BMM需要有骨髓（BM）受累且无肥大细胞增多症的皮肤病变。BMM的特点是男性患病率较高、血清类胰蛋白酶水平略有升高、骨髓肥大细胞（MC）负荷较低以及临床病程呈惰性。BMM与严重过敏反应密切相关，主要是由于对蜜蜂或黄蜂毒液的IgE介导的过敏反应，较少见的是原因不明（特发性）的过敏反应。此外，BMM常与骨质疏松症相关，而骨质疏松症可能是该疾病唯一的表现症状。BMM是一种未得到充分重视的疾病，因为在存在原因不明的骨质疏松症或过敏反应时，血清类胰蛋白酶水平通常不进行常规检测。此外，除了严重的过敏反应外，BMM患者通常没有症状。这些因素，再加上典型的低骨髓MC浸润，可能导致医生忽视BMM的诊断，尤其是在缺乏适当敏感诊断技术的医疗中心。这篇综述强调了对于有疑似症状但缺乏典型皮肤病变的患者，即使血清类胰蛋白酶水平正常，也需要一条正确的诊断途径来诊断BMM。早期诊断可能预防潜在的危及生命的过敏反应或严重的骨骼并发症。
