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Q&A: The Link Between HS and Down Syndrome

Q&A: The Link Between HS and Down Syndrome

Tue, 10/20/2020 - 14:51

Dr Raed

Findings from a recent study showed patients with Down syndrome are more likely to develop hidradenitis suppurativa (HS) compared with people without Down syndrome. The study also showed that patients with Down syndrome were more likely to experience symptoms of HS at an earlier age compared with their non-Down syndrome counterparts.

Read our full coverage of the study.

Corresponding author Raed Alhusayen, MBBS, MSCE, FRCPC, provided some insight into the studying findings and its implication for clinical practice in an interview with The Dermatologist. Dr Alhusayen is the president of the Canadian Hidradenitis Suppurativa Foundation; an associate scientist with the Evaluative Clinical Sciences, Odette Cancer Research Program; a staff physician with the division of dermatology at Sunnybrook Research Institute; and an assistant professor with the University of Toronto.

The Dermatologist: Why did you and your team decide to conduct this study?

Dr Alhusayen: We are still learning about the many comorbidities associated with HS, whether it is metabolic syndrome, inflammatory bowel disease, inflammatory arthritis, or depression.

The idea for this research came from our observations in the clinic, where we were seeing a seemingly higher proportion of patients with Down syndrome presenting with HS. Thus, we decided to investigate this association. 

The Dermatologist: Your study showed a strong association between HS and Down syndrome, as well as an earlier disease onset among patients with Down syndrome. What is the significance of these findings?

Dr Alhusayen:  We found Down syndrome to be associated with an almost 10-fold increase in the risk of developing HS. This is one of the strongest associations, if not the strongest, of any comorbidity with HS. The cause is not clear, but it could point to a common genetic mutation causing immune dysregulation in the pilosebaceous unit. 

On average, we found that patients with Down syndrome developed HS 6 years earlier (younger) than those without Down syndrome. HS is associated with permanent tissue destruction and scarring, so an earlier onset could potentially result in further damage before the disease is diagnosed and treated.

In addition, HS has a significant impact on quality of life and study/work productivity, so an earlier onset of the disease could have even more negative impact in patients. 

The Dermatologist: What areas of future research are needed to better understand the relationship between Down syndrome and HS?

Dr Alhusayen: Further research is needed to explore genetic mutations that could explain this association, whether HS in patients with Down syndrome is a different phenotype and/or have different clinical characteristics, disease severity, and response to treatment.

The Dermatologist: What are the important clinical implications and considerations dermatologists should take from your study?

Dr Alhusayen: Given the strength of this association, dermatologists are encouraged to screen for HS in patients with Down syndrome. This could be done by taking a thorough history and physical exam.

Furthermore, it is important for pediatricians and family physicians to be aware of this association as patients usually present to them first with their symptoms. This is especially important given that HS is associated with an average 7-year delay between onset of symptoms and diagnosis. With an earlier onset of HS among patients with Down syndrome, this delay may be even longer. 

Reference

Lam M, Lai C, Almuhanna N, Alhusayen R. Hidradenitis suppurativa and Down syndrome: a systematic review and meta‐analysis. Pediatr Dermatol. Published online September 6, 2020. doi:10.1111/pde.14326

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