Down syndrome and Psoriasis: An Investigation of Cardiometabolic Risk - Project Summary/Abstract
This project is a novel study of psoriasis in individuals with Down syndrome (DS). Although clinical
observations and existing literature contend that psoriasis is a common skin condition in DS, there is no
supportive population-based research. Studies exploring disease severity and treatments are limited to case
reports or small case series. There is likely an immunologic basis for this association: interferon (IFN) gamma
is believed to be a significant cause of psoriasis and individuals with DS often have a hyperactive IFN pathway
due to the triplication of chromosome 21. Improving our understanding of psoriasis in people with DS is
paramount. We need to better understand the burden of disease across the age range, capture disease
severity, and evaluate medical management.
Psoriasis is not a condition limited to the skin, but rather a disease of systemic inflammation associated
with multiple comorbidities, specifically cardiovascular disease and cardiometabolic risk factors including
obesity, hypertension, dyslipidemia, type II diabetes, and metabolic syndrome. Recent guidelines by the
American Heart Association and American College of Cardiology have identified psoriasis as an enhanced
risk-inducing factor for atherosclerotic cardiovascular disease. Although these cardiovascular associations
have been well established in the general population, the link between cardiometabolic risk and cardiovascular
disease in individuals with DS and psoriasis is unknown. This potential association between psoriasis and
cardiometabolic health is of particular interest since individuals with DS are considered protected against
cardiovascular disease. Could psoriasis be an exception to the presumed resiliency in people with DS or reveal
an exception to the established elevated risk in the general population? Either association would promote
further investigation into the immunology and pathophysiology behind the association and prompt reevaluation
of cardiovascular monitoring and medical management in patients with DS and psoriasis.
To investigate this hypothesis, we propose utilizing Epic Cosmos, the largest integrated data platform of
clinical health information in the United States with records from over 96,000 individuals with DS and
approximately 2,000 patients with DS and psoriasis. We will use Epic Cosmos to 1) Evaluate the
demographics, occurrence, treatment, and severity of psoriasis in DS patients and 2) Determine the
association of cardiometabolic risk factors and cardiovascular events in DS patients with psoriasis and without.
Skin conditions in DS should be considered a window into systemic health. We will establish the importance of
thinking beyond “the visible” by examining cutaneous disorders, such as psoriasis, for their greater systemic
impact. The innovative use of Cosmos will advance a novel and important translational methodology that can
be leveraged for future projects within the DS research community.
