Date of Award
5-2026
Document Type
Dissertation
Degree Name
Doctor of Philosophy (PhD)
Department
Healthcare Genetics
Committee Chair/Advisor
Heide S. Temples
Committee Member
Luigi Boccuto
Committee Member
William C. Bridges
Committee Member
Veronica C. Parker
Committee Member
Nicole J. Davis
Committee Member
Sean Connolly
Abstract
Hidradenitis suppurativa (HS) is a chronic, inflammatory skin disease associated with substantial physical, psychosocial, and socioeconomic burden. Despite increasing recognition of its prevalence and impact, major gaps persist in understanding its genetic underpinnings, familial transmission patterns, and the social determinants that shape patient outcomes. This dissertation integrates three complementary studies to advance knowledge across these domains: (1) a systematic review of genetic mutations associated with HS; (2) a cross-sectional investigation of familial prevalence and communication patterns within HS-affected families; and (3) an evaluation of quality of life (QOL) and socioeconomic status (SES) among individuals living with HS.
The first study synthesizes evidence from 44 case studies and genomic investigations, demonstrating that while approximately 30% of individuals report a family history of HS, monogenic mutations, most commonly in the γ-secretase complex genes NCSTN, PSENEN, and PSEN1, account for fewer than 7% of cases. Additional mutations identified in syndromic HS highlight the polygenic and heterogeneous nature of disease pathogenesis, underscoring the need for broader genomic interrogation, including whole-exome sequencing and genome-wide association studies.
The second study examines survey data from adults with HS recruited from online support groups. Results indicate that familial involvement appears to be higher than historically reported, suggesting potential underrecognition of HS within families. Communication barriers, such as embarrassment, privacy concerns, and limited family connections, contribute to uncertainty about family history, while HS‑like symptoms (e.g., recurrent cysts, abscesses, boils, or ingrown hairs) were commonly noted among relatives without formal diagnoses. These patterns suggest that familial HS may be substantially underestimated and highlight the need for improved education and destigmatization to support earlier identification.
The third study assesses quality of life using the validated HSQoL‑24 instrument and develops a composite SES index incorporating education, employment, and insurance status. Participants across all demographic and clinical groups reported substantial impairment in QOL. Patterns indicated that greater disease severity, obesity, smoking, and lower SES were each linked to poorer QOL, although meaningful impairment remained evident even among individuals with early‑stage disease or higher SES. These findings highlight the multifaceted burden of HS and the critical role of social drivers of health in shaping the patient experience.
Collectively, this dissertation demonstrates that HS is a genetically complex, underrecognized familial disorder with profound consequences for quality of life across socioeconomic strata. The results underscore the need for integrated, multidisciplinary approaches that combine genomic research, improved family communication, and targeted interventions addressing both clinical severity and social determinants of health. This work contributes new insights into the genetic architecture, familial dynamics, and lived experience of HS, offering a foundation for more effective diagnostic, therapeutic, and public health strategies.
Recommended Citation
Eble, Shannon M., "Genetic Factors Associated With Hidradenitis Suppurativa" (2026). All Dissertations. 4209.
https://open.clemson.edu/all_dissertations/4209
Author ORCID Identifier
0009-0001-3630-8459