Bejares Marcela, Oyarzún Amaya, Lucero Yalda, Espinoza Nelly, Bascuñán Karla, Araya Magdalena
Rev Med Chil. 2015 Dec;143(12):1521-6. doi: 10.4067/S0034-98872015001200003.
Active search of celiac disease (CD) among risk groups has significantly increased the scope of known clinical variants.
To measure the frequency and clinical characteristics of CD among first degree relatives (FDR) of known celiac cases.
Between January 2012-August 2013, 37 patients with celiac disease brought 113 FDR for assessment. Their clinical data was recorded and a blood sample was obtained to measure serum Immunoglobulin A (IgA) levels, anti-transglutaminase (tTG) and anti-endomisial (EMA) antibodies. Cases with positive serology were advised to have an intestinal biopsy.
Fourteen relatives (12.4%) had positive serological results and none had IgA deficiency. Among IgA-tTG (-) cases, measurement of IgA/IgG-tTG identified an additional case. Two of the 14 relatives were EMA positive. All 14 cases were advised to have an intestinal biopsy, but only 6 accepted the procedure. In two, the intestinal lesion was classified Marsh ≥ 2 and active CD was diagnosed. Histology in the remaining four was Marsh 0/1 and were diagnosed potential CD, remaining under control, without gluten free diet.
Serological prevalence of CD among first degree relatives of known celiac cases was 15 fold greater than in THE general Chilean population, strongly supporting the idea of implementing active search to customary clinical practice. Determination of IgA/IgG-tTG may be useful to improve the yield of active search. Intestinal biopsies were crucial to differentiate active classic CD from potential CD.
在风险人群中积极筛查乳糜泻(CD)显著增加了已知临床变异的范围。
测定已知乳糜泻病例的一级亲属(FDR)中CD的发生率及临床特征。
2012年1月至2013年8月期间,37例乳糜泻患者带113名一级亲属前来评估。记录他们的临床数据,并采集血样以测定血清免疫球蛋白A(IgA)水平、抗转谷氨酰胺酶(tTG)和抗肌内膜(EMA)抗体。血清学检测呈阳性的病例建议进行肠道活检。
14名亲属(12.4%)血清学检测结果呈阳性,且均无IgA缺乏。在IgA-tTG(-)的病例中,IgA/IgG-tTG检测又发现1例。14名亲属中有2名EMA呈阳性。所有14例均建议进行肠道活检,但只有6例接受了该检查。其中2例肠道病变分类为马什(Marsh)≥2级,确诊为活动性CD。其余4例组织学检查为马什0/1级,诊断为潜在CD,目前处于监测中,未采用无麸质饮食。
已知乳糜泻病例的一级亲属中CD的血清学患病率比智利普通人群高15倍,有力支持了在常规临床实践中开展积极筛查的观点。测定IgA/IgG-tTG可能有助于提高积极筛查的检出率。肠道活检对于区分活动性典型CD和潜在CD至关重要。