Internal Medicine Department, Hôpital Saint Joseph, 26, bd de Louvain, 13008 Marseille, France; Internal Medicine Department, University Hospital of Geneva, Rue Gabrielle-Perret-Gentil 4, 1205 Geneva, Switzerland.
Immunology Laboratory, University Hôpital La Conception, 147, boulevard Baille, 13005 Marseille, France.
Joint Bone Spine. 2018 Jan;85(1):71-77. doi: 10.1016/j.jbspin.2016.12.002. Epub 2016 Dec 26.
Type 1 Gaucher disease may be related to the presence of autoantibodies. Their clinical significance is questioned. Primary endpoint was to compare the prevalence of autoantibodies in type 1 Gaucher disease patients with healthy subjects, seeking correlations with autoimmune characteristics. Secondary endpoints were to determine whether patients with autoantibodies reported autoimmunity-related symptoms and if genotype, splenectomy or treatment influenced autoantibodies presence.
Type 1 Gaucher disease patients and healthy volunteers were included in this national multicenter exploratory study. Autoantibodies presence was compared in both groups and assessed regarding to genotype, splenectomy, Gaucher disease treatment and autoimmunity-related symptoms.
Twenty healthy subjects and 40 type 1 Gaucher disease patients were included. Of the studied group: 15 patients undergone splenectomy, 37 were treated either with enzyme replacement therapy (34) or with substrate reduction therapy (3), 25 were homozygous/heterozygous for the N370S mutation. In type 1 Gaucher disease group (studied group), 52% had positive autoantibodies versus 26% in control group. Antiphospholipid antibodies were more frequent in the studied group (30% vs. 5%), but without correlation to thrombosis, osteonecrosis or bone infarcts. In the studied group, antinuclear antibodies were more frequent (25% vs. 16%). None of the patients with autoantibodies had clinical manifestations of autoimmune diseases. Autoantibodies were not correlated with treatment, genotype, or splenectomy, except for anticardiolipid, more frequent in splenectomized patients.
In type 1 Gaucher disease, autoantibodies were more frequent compared to a healthy population. However, they were not associated with an increased prevalence of clinical active autoimmune diseases.
1 型戈谢病可能与自身抗体的存在有关。其临床意义受到质疑。主要终点是比较 1 型戈谢病患者与健康受试者中自身抗体的患病率，寻找与自身免疫特征的相关性。次要终点是确定是否存在自身抗体的患者报告与自身免疫相关的症状，以及基因型、脾切除术或治疗是否影响自身抗体的存在。
本研究纳入了一项全国性多中心探索性研究中的 1 型戈谢病患者和健康志愿者。比较了两组患者中自身抗体的存在情况，并评估了基因型、脾切除术、戈谢病治疗和与自身免疫相关的症状。
纳入了 20 名健康受试者和 40 名 1 型戈谢病患者。在研究组中：15 名患者接受了脾切除术，37 名患者接受了酶替代治疗（34 名）或底物减少治疗（3 名），25 名患者为 N370S 突变的纯合子/杂合子。在 1 型戈谢病组（研究组）中，有 52%的患者存在自身抗体阳性，而对照组为 26%。抗磷脂抗体在研究组中更为常见（30%比 5%），但与血栓形成、骨坏死或骨梗死无关。在研究组中，抗核抗体更为常见（25%比 16%）。无自身抗体的患者均无自身免疫性疾病的临床表现。除抗心磷脂抗体外，自身抗体与治疗、基因型或脾切除术均无相关性，而抗心磷脂抗体在脾切除患者中更为常见。
与健康人群相比，1 型戈谢病患者中自身抗体更为常见。然而，它们与临床活动性自身免疫性疾病的发生率增加无关。
