Reyes J, Llompart A, Barranco L, Gayà J, Forteza-Rey I, Obrador A
Servicio de Digestivo, Hospital Son Dureta, Palma, Mallorca, Spain.
Gastroenterol Hepatol. 2002 Jun-Jul;25(6):387-91. doi: 10.1016/s0210-5705(02)70271-9.
The first aim of this study is to assess the frequency of osteomatous jaw lesions in patients with a diagnosis of familial adenomatous polyposis (FAP), and a group of FAP-relatives from the FAP registry of Majorca (Balearic Islands, Spain). The second aim is to study the predictive significance of osteomatous jaw lesions in families with FAP. The study included forty-two people. Twenty-five patients and seventeen relatives. All individuals underwent pantomography. Osteomatous jaw lesions were diagnosed in 68% of FAP-patients, and 6% of FAP-relatives. The difference was statistically significant (p < 0.001). The sensitivity was 68%, the specificity 94% and positive predictive value 94%. This frequency of osteomatous jaw lesions agree with previous studies of FAP-patients (57-82%), but differ from these of the previous studies of FAP-relatives (16-18%). The available method detect APC (adenomatous polyposis coli) gene mutations in 48-82% of FAP families. In the families without detected mutation, non-informative study or non-available study, the screening is based in seriated sigmoidoscopy and study of the extraintestinals lesions of the FAP syndrome. The frequency of osteomatous jaw lesions in FAP-patients is greater than the observed in FAP-relatives (p < 0.001). Osteomas in families with FAP are of predictive significance.
本研究的首要目的是评估诊断为家族性腺瘤性息肉病（FAP）的患者以及来自西班牙巴利阿里群岛马略卡FAP登记处的一组FAP亲属中骨瘤性颌骨病变的发生率。第二个目的是研究FAP家族中骨瘤性颌骨病变的预测意义。该研究纳入了42人，其中25名患者和17名亲属。所有个体均接受了全景X线片检查。68%的FAP患者和6%的FAP亲属被诊断出骨瘤性颌骨病变。差异具有统计学意义（p<0.001）。敏感性为68%，特异性为94%，阳性预测值为94%。这种骨瘤性颌骨病变的发生率与之前对FAP患者的研究结果一致（57 - 82%），但与之前对FAP亲属的研究结果不同（16 - 18%）。现有的方法在48 - 82%的FAP家族中检测到APC（腺瘤性息肉病 coli）基因突变。在未检测到突变、研究无信息或无法进行研究的家族中，筛查基于连续乙状结肠镜检查和FAP综合征肠道外病变的研究。FAP患者中骨瘤性颌骨病变的发生率高于FAP亲属中观察到的发生率（p<0.001）。FAP家族中的骨瘤具有预测意义。
