Kristensen Mattias Hedegaard, Schmidt Sigrún Alba Jóhannesdóttir, Kibsgaard Line, Mogensen Mette, Sommerlund Mette, Koppelhus Uffe
Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark,
Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, Denmark.
Clin Epidemiol. 2019 Jan 17;11:115-124. doi: 10.2147/CLEP.S184742. eCollection 2019.
Congenital epidermolysis bullosa (CEB) is a group of rare monogenic genodermatoses. Phenotypically, the diseases vary in both severity and dissemination, which complicates studies of their epidemiology. To investigate the potential of using the Danish National Patient Registry (DNPR) for epidemiological research on CEB, we examined the positive predictive value (PPV) of a first-time diagnosis of CEB.
We identified patients with a record of CEB in DNPR and the Danish Pathology Registry (DPR) during January 1, 1977, until December 31, 2015. We restricted diagnoses from two dermatological departments and one regional hospital. Diagnoses in the DNPR are coded by the eighth and tenth revisions of the ICD (ICD-8 and ICD-10) and in the DPR by the Systematized Nomenclature of Medicine (SNOMED). We used clinical description in medical records, family history, histological findings, and molecular genetic investigations to validate diagnoses and classified them as rejected and confirmed. We estimated PPVs for any diagnosis, according to coding systems used, and for additional subdivisions of ICD-10 codes.
We identified 116 cases from the hospital departments investigated and evaluated 96 medical records for validity. The overall PPV for probable CEB was 62.5% (95% CI: 52.5-71.5). For ICD-8, ICD-10, and SNOMED codes, the PPVs were 30.8% (95% CI: 11.4-57.7), 76.7% (95% CI: 65.8-84.9), and 0.0% (95% CI: 0.0-21.7), respectively. For the ICD-10 codes, we found the highest PPVs for diagnoses arising from the dermatological departments. For subdivisions of ICD-10 codes, PPVs were high for epidermolysis bullosa simplex and dystrophica.
The PPVs for first-time diagnoses of CEB registered in the two Danish nationwide registries investigated, DNPR and DPR, ranged from low to average. We therefore recommend that these data be used with caution and restricted to ICD-10 diagnoses from specialized dermatological departments.
先天性大疱性表皮松解症（CEB）是一组罕见的单基因遗传性皮肤病。在表型上，这些疾病在严重程度和分布范围上存在差异，这使得其流行病学研究变得复杂。为了研究利用丹麦国家患者登记处（DNPR）进行CEB流行病学研究的潜力，我们检测了首次诊断为CEB的阳性预测值（PPV）。
我们确定了1977年1月1日至2015年12月31日期间在DNPR和丹麦病理登记处（DPR）中有CEB记录的患者。我们将诊断限制在两个皮肤科和一家地区医院。DNPR中的诊断依据国际疾病分类第八版和第十版（ICD - 8和ICD - 10）进行编码，DPR中的诊断依据医学系统命名法（SNOMED）进行编码。我们利用病历中的临床描述、家族史、组织学检查结果和分子遗传学研究来验证诊断，并将其分为被拒诊断和确诊诊断。我们根据所使用的编码系统估计了任何诊断的PPV，以及ICD - 10编码的其他细分情况。
我们从所调查的医院科室中确定了116例病例，并评估了96份病历的有效性。可能的CEB的总体PPV为62.5%（95%置信区间：52.5 - 71.5）。对于ICD - 8、ICD - 10和SNOMED编码，PPV分别为30.8%（95%置信区间：11.4 - 57.7）、76.7%（95%置信区间：65.8 - 84.9）和0.0%（95%置信区间：0.0 - 21.7）。对于ICD - 10编码，我们发现皮肤科诊断的PPV最高。对于ICD - 10编码的细分情况，单纯型和营养不良型大疱性表皮松解症的PPV较高。
在我们所调查的两个丹麦全国性登记处DNPR和DPR中登记的首次诊断为CEB的PPV范围从低到中等。因此，我们建议谨慎使用这些数据，并且仅限于来自专门皮肤科的ICD - 10诊断。
