Cystic fibrosis in Canadian Hutterites

Abstract

Background The Hutterite Brethren are a communal group of Anabaptists who live in the Western regions of North America, predominantly in the Western Canadian provinces. Due to a founder effect, Hutterites have a high rate of cystic fibrosis (CF) with genotypes limited to only two CFTR mutations. One‐third of Hutterite patients with CF are pancreatic sufficient. Previously we found an unexplained younger age at death in Hutterites compared with nonHutterites homozygous for the common F508del mutation. The present study expanded the data collection and analysis for confirmation and further exploration. Methods Anonymized information, based on Hutterite surnames, was extracted from the Canadian CF Registry. Summary data on nonHutterite patients with CF homozygous for F508del served as control. Statistical analyses explored the effects of genotype within Hutterites and compared nutritional status, lung function, and microbiologic findings between the groups. Results The younger average age at death in Hutterites compared with controls was confirmed, but there was no suggestion of a generally shortened life expectancy. While the nutritional status in Hutterite children was better than that of controls, their lung function was slightly but significantly lower. Staphylococcus aureus was more frequent in Hutterites while there was no difference between the groups regarding Pseudomonas aeruginosa. Conclusions Despite less pancreatic insufficiency, better nutrition, communal life in socioeconomic stability, and without exposure to environmental tobacco smoke, the clinical course of CF appears to be more severe in a significant number of Hutterites. Investigations of gene‐environment interactions and of CF disease gene modifiers may help to explain this conundrum.

Elexacaftor-Tezacaftor-Ivacaftor in 2 cystic fibrosis adults homozygous for M1101K with end-stage lung disease

“…The distribution of these alleles is often concentrated in specific communities [ 20 ]. Within Canada, those in Hutterite communities are disproportionally affected by CF and the M1101K homozygous genotype has been found in 39% of those with CF in this population [ 11 ]. Evaluation of the clinical effects for rare CFTR variants such as M1101K is challenging due to the paucity of cases available for enrollment in large-scale studies.…”

“…However, in Canada, M1101K is found in 1.7% of individuals with CF [ 9 ]. In particular, rates of M1101K in the Prairie provinces of Canada are disproportionally enriched because of the high prevalence of Hutterite colonies [ 10 , 11 ]. As such, the incidence of CF is 1:313 live births in these communities [ 12 ] compared to the national rate of 1:3850 [ 9 ].…”

Year in Review 2020: Multisystemic impact of cystic fibrosis

“…Pasterkamp et al 40 used the Canadian CF Registry to describe a population of 92 Hutterite Brethren, a communal group of Anabaptists (which also included the Mennonites and Amish), who live in Western Canada, to Canadian homozygous F508del controls. The Hutterites have a high incidence of CF (1:467) and almost exclusively carry the F508 and M1101K mutations (due to founder effect).…”