Hermine Olivier, Lortholary Olivier, Leventhal Phillip S, Catteau Adeline, Soppelsa Frédérique, Baude Cedric, Cohen-Akenine Annick, Palmérini Fabienne, Hanssens Katia, Yang Ying, Sobol Hagay, Fraytag Sylvie, Ghez David, Suarez Felipe, Barete Stéphane, Casassus Philippe, Sans Beatrice, Arock Michel, Kinet Jean Pierre, Dubreuil Patrice, Moussy Alain
Service de Dermatologie, Centre de référence sur la mastocytose, Hôpital Necker, Paris, France.
PLoS One. 2008 May 28;3(5):e2266. doi: 10.1371/journal.pone.0002266.
Indolent forms of mastocytosis account for more than 90% of all cases, but the types and type and severity of symptoms and their impact on the quality of life have not been well studied. We therefore performed a case-control cohort study to examine self-reported disability and impact of symptoms on the quality of life in patients with mastocytosis.
METHODOLOGY/PRINCIPAL FINDINGS: In 2004, 363 mastocytosis patients and 90 controls in France were asked to rate to their overall disability (OPA score) and the severity of 38 individual symptoms. The latter was used to calculate a composite score (AFIRMM score). Of the 363 respondents, 262 were part of an ongoing pathophysiological study so that the following data were available: World Health Organization classification, standard measures of physical and psychological disability, existence of the D816V KIT mutation, and serum tryptase level. The mean OPA and AFIRMM scores and the standard measures of disability indicated that most mastocytosis patients suffer from disabilities due to the disease. Surprisingly, the patient's measurable and perceived disabilities did not differ according to disease classification or presence or absence of the D816V KIT mutation or an elevated (> or = 20 ng/mL) serum tryptase level. Also, 32 of the 38 AFIRMM symptoms were more common in patients than controls, but there were not substantial differences according to disease classification, presence of the D816V mutation, or the serum tryptase level.
On the basis of these results and for the purposes of treatment, we propose that mastocytosis be first classified as aggressive or indolent and that indolent mastocytosis then be categorized according to the severity of patients' perceived symptoms and their impact on the quality of life. In addition, it appears that mastocytosis patients suffer from more symptoms and greater disability than previously thought, that mastocytosis may therefore be under-diagnosed, and that the symptoms of the indolent forms of mastocytosis might be due more to systemic release of mediators than mast cell burden.
惰性肥大细胞增多症占所有病例的90%以上，但症状的类型、严重程度及其对生活质量的影响尚未得到充分研究。因此，我们进行了一项病例对照队列研究，以检查肥大细胞增多症患者自我报告的残疾情况以及症状对生活质量的影响。
方法/主要发现：2004年，法国的363名肥大细胞增多症患者和90名对照者被要求对其总体残疾程度（OPA评分）和38种个体症状的严重程度进行评分。后者用于计算综合评分（AFIRMM评分）。在363名受访者中，262名参与了一项正在进行的病理生理学研究，因此可获得以下数据：世界卫生组织分类、身体和心理残疾的标准测量、D816V KIT突变的存在情况以及血清类胰蛋白酶水平。平均OPA和AFIRMM评分以及残疾的标准测量表明，大多数肥大细胞增多症患者因该疾病而存在残疾。令人惊讶的是，患者可测量和感知到的残疾在疾病分类、D816V KIT突变的有无或血清类胰蛋白酶水平升高（≥20 ng/mL）方面并无差异。此外，AFIRMM评分的38种症状中有32种在患者中比对照者更常见，但在疾病分类、D816V突变的存在情况或血清类胰蛋白酶水平方面并无实质性差异。
基于这些结果并出于治疗目的，我们建议将肥大细胞增多症首先分为侵袭性或惰性，然后将惰性肥大细胞增多症根据患者感知症状的严重程度及其对生活质量的影响进行分类。此外，似乎肥大细胞增多症患者的症状比以前认为的更多，残疾程度也更高，因此肥大细胞增多症可能诊断不足，惰性肥大细胞增多症的症状可能更多是由于介质的全身释放而非肥大细胞负荷所致。
