Prevalence of Birt-Hogg-Dubé Syndrome Determined Through Epidemiological Data on Spontaneous Pneumothorax and Bayes Theorem

Frontiers in Medicine

article

Marie-Eve Muller¹  Cécile Daccord¹  Patrick Taffé²  Romain Lazor¹ 

[1] Respiratory Medicine Department, Lausanne University Hospital, University of Lausanne;University Center for Primary Care and Public Health (Unisanté), DFRI/Division of Biostatistics, University of Lausanne

关键词: Birt-Hogg-Dube syndrome;    prevalence;    pneumothorax;    epidemiology;    meta-analysis;    Bayes theorem;    gender;   

DOI  :  10.3389/fmed.2021.631168

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Background: Birt-Hogg-Dubé syndrome (BHD) is a rare inherited disorder characterized by cutaneous fibrofolliculomas, multiple pulmonary cysts, recurrent spontaneous pneumothorax (SP), and renal tumors. More than 40 years after its description, the prevalence of BHD in the general population remains unknown. This study aimed at determining the prevalence of BHD by applying the Bayes theorem of conditional probability to epidemiological data on SP. Methods: We performed a meta-analysis of published data on: (1) the probability of having BHD among patients with apparent primary SP (4 studies), (2) the incidence rate of primary SP in the general population (9 studies), and (3) the probability of experiencing a SP in BHD (16 studies). Results were corrected for SP relapses, stratified by gender and year of study publication (before and after 2000), and computed with the Bayes equation. Results: The probability of having BHD among patients with apparent primary SP was 0.09 (95% confidence interval: 0.07, 0.11) or 9%. It was 0.20 (0.14, 0.27) in women and 0.05 (0.04, 0.07) in men. The incidence rate of primary SP in the general population was 8.69 (6.58, 11.46) per 100,000 person-years (p-y). It was 3.44 (2.36, 4.99) per 100,000 p-y in women and 13.96 (10.72, 18.18) per 100,000 p-y in men, and was about 2 times higher in studies published after 2000 than in those published before 2000. The probability of experiencing at least one SP among patients with BHD was 0.43 (0.31, 0.54) or 43%, without gender difference. By combining these data in the Bayes equation, we found a prevalence of BHD in the general population of 1.86 (1.16, 3.00) per million, with values of 1.86 (1.02, 3.39) per million in men, and 1.88 (0.97, 3.63) per million in women. Conclusion: The prevalence of BHD in the general population is about 2 cases per million, without difference between genders.

【 授权许可】

CC BY