School of Medicine and Health Sciences Poster Presentations

Title

Prevalence of Prothrombotic Gene Mutations in Hidradenitis Suppurativa

Document Type

Poster

Keywords

Hidradenitis Suppurativa; prothrombotic; gene; mutation; procoagulant

Publication Date

Spring 2017

Abstract

Introduction

Hidradenitis suppurativa (HS) is a chronic, recurrent, inflammatory disease of the apocrine sweat glands, characterized by recurrent abscessing inflammation. The disease affects approximately 1-4% of the population and there is currently no known cure. Many patients with HS undergo extensive reconstructive surgery requiring skin grafts. Since skin grafts are more likely to fail in patients with underlying prothrombotic states, the purpose of this study is to determine the prevalence of MTHFT C677T, Factor V Leiden (FVL), Plasminogen activator inhibitor-1 (PAI-1), and Prothrombin gene Factor II (Pro2) procoagulant gene mutations in HS and the impact of these mutations on disease activity score.

Methods

This research was conducted through the Wound Etiology and Healing Study (WE-HEAL Study), an observational bio-specimen and data repository approved by The George Washington University IRB (041408). All subjects gave written informed consent for longitudinal collection of their data while they receive treatment according to standard of care. Laboratory data was collected including procoagulant gene mutation (MTHFT C677T, FVL, PAI-1, and Pro2). Disease activity scores including Hurley stage, HSS and AN count are documented at baseline and every clinic visit.

Results and Discussion

At the time of data lock there were 64 subjects enrolled in the WE-HEAL study with HS. There was no significant difference in age, sex, race, pain, body mass index or smoking status in patients with MTHFR mutations, PAI-1 mutations, FVL, Pro2 or no mutations. Of the patients who were tested for MTHFR, 73% were negative, 23% were heterozygous, and 4% were homozygous. The reported prevalence is 33% heterozygous and 8% homozygous in the population. FVL was negative in all 46 patients. The FVL allele has been reported to be present in 5% of Caucasians and virtually absent in all other races. In patients tested for the PAI-1, 44% tested negative, 42% heterozygous, 26% homozygous. Similar to reported values of 33%, 40%, and 26% respectively in healthy controls. The Pro2 mutation was 2% heterozygous compared to reported values of 0.4-4%.

There were no significant differences in baseline disease activity scores and ultimate healing outcome when comparing negative, heterozygous, and homozygous MTHFR patients. Similarly, there were no significant differences in disease activity scores when comparing negative, heterozygous, and homozygous PAI-1 patients.

Conclusion

In this longitudinal observational cohort of HS patients, genetic prothrombotic states were no more common than expected for prevalence of the mutations in the general population and presence of mutations did not correlate with disease activity scores.

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

Open Access

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Comments

Poster to be presented at GW Annual Research Days 2017.

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Prevalence of Prothrombotic Gene Mutations in Hidradenitis Suppurativa

Introduction

Hidradenitis suppurativa (HS) is a chronic, recurrent, inflammatory disease of the apocrine sweat glands, characterized by recurrent abscessing inflammation. The disease affects approximately 1-4% of the population and there is currently no known cure. Many patients with HS undergo extensive reconstructive surgery requiring skin grafts. Since skin grafts are more likely to fail in patients with underlying prothrombotic states, the purpose of this study is to determine the prevalence of MTHFT C677T, Factor V Leiden (FVL), Plasminogen activator inhibitor-1 (PAI-1), and Prothrombin gene Factor II (Pro2) procoagulant gene mutations in HS and the impact of these mutations on disease activity score.

Methods

This research was conducted through the Wound Etiology and Healing Study (WE-HEAL Study), an observational bio-specimen and data repository approved by The George Washington University IRB (041408). All subjects gave written informed consent for longitudinal collection of their data while they receive treatment according to standard of care. Laboratory data was collected including procoagulant gene mutation (MTHFT C677T, FVL, PAI-1, and Pro2). Disease activity scores including Hurley stage, HSS and AN count are documented at baseline and every clinic visit.

Results and Discussion

At the time of data lock there were 64 subjects enrolled in the WE-HEAL study with HS. There was no significant difference in age, sex, race, pain, body mass index or smoking status in patients with MTHFR mutations, PAI-1 mutations, FVL, Pro2 or no mutations. Of the patients who were tested for MTHFR, 73% were negative, 23% were heterozygous, and 4% were homozygous. The reported prevalence is 33% heterozygous and 8% homozygous in the population. FVL was negative in all 46 patients. The FVL allele has been reported to be present in 5% of Caucasians and virtually absent in all other races. In patients tested for the PAI-1, 44% tested negative, 42% heterozygous, 26% homozygous. Similar to reported values of 33%, 40%, and 26% respectively in healthy controls. The Pro2 mutation was 2% heterozygous compared to reported values of 0.4-4%.

There were no significant differences in baseline disease activity scores and ultimate healing outcome when comparing negative, heterozygous, and homozygous MTHFR patients. Similarly, there were no significant differences in disease activity scores when comparing negative, heterozygous, and homozygous PAI-1 patients.

Conclusion

In this longitudinal observational cohort of HS patients, genetic prothrombotic states were no more common than expected for prevalence of the mutations in the general population and presence of mutations did not correlate with disease activity scores.