Hailey-Hailey Disease is Associated with Diabetes: A Population-based Cohort Study, Clinical Cohort Study, and Pedigree Analysis

Author:

Curman Philip,Jebril William,Evans-Molina Carmella,Bachar-Wikstrom Etty,Larsson Henrik,Cederlöf Martin,Wikström Jakob D.

Abstract

Hailey-Hailey disease is a rare hereditary skin disease caused by mutations in the ATP2C1 gene encoding the secretory pathway Ca2+/Mn2+-ATPase 1 (SPCA1) protein. Extracutaneous manifestations of Hailey-Hailey disease are plausible but still largely unknown. The aim of this study was to explore the association between Hailey-Hailey disease and diabetes. A population-based cohort study of 347 individuals with Hailey-Hailey  disease was performed to assess the risks of type 1  diabetes and type 2 diabetes, using Swedish nationwide registries. Pedigrees from 2 Swedish families with Hailey-Hailey disease were also investigated: 1 with concurrent type 1 diabetes and HLA-DQ3, the other with type 2 diabetes. Lastly, a clinical cohort with 23 individuals with Hailey-Hailey disease and matched healthy controls was evaluated regarding diabetes. In the register data males with Hailey-Hailey disease had a 70% elevated risk of type 2 diabetes, whereas no  excess risk among women could be confirmed. In both pedigrees an unusually high inheritance for diabetes was observed. In the clinical cohort, individuals with Hailey-Hailey disease displayed a metabolic phenotype indicative of type 2 diabetes. Hailey-Hailey disease seems to act as a synergistic risk factor for diabetes. This study indicates, for the first time, an association between Hailey-Hailey disease and diabetes and represents human evidence that SPCA1 and the Golgi apparatus may be implicated in diabetes pathophysiology.

Funder

HudFonden

Svenska Sällskapet för Medicinsk Forskning

Vetenskapsrådet

LEO Fondet

Jeanssons Stiftelser

Marcus och Amalia Wallenbergs minnesfond

Åke Wiberg Stiftelse

Svenska Läkaresällskapet

Magnus Bergvalls Stiftelse

Tore Nilsons Stiftelse för Medicinsk Forskning

Publisher

Medical Journals Sweden AB

Subject

Dermatology,General Medicine

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