A Systematic Literature Review of the Economic Burden in Patients with Ehlers-Danlos Syndrome in the United States
Author(s)
Amit Ahuja, M. Pharm1, Inderpreet Singh Khurana, M. Pharm2, Rishabh Verma, M. Pharm2.
1Senior Director, Lumanity, Gurugram, India, 2Lumanity, Gurugram, India.
1Senior Director, Lumanity, Gurugram, India, 2Lumanity, Gurugram, India.
OBJECTIVES: Ehlers-Danlos Syndrome (EDS) is a rare hereditary connective tissue disorder affecting 1 in 5,000 individuals, causing joint hypermobility, skin hyperextensibility, and tissue fragility. This condition often requires complex, multidisciplinary care, yet its economic and healthcare impacts remain poorly understood. This systematic literature review (SLR) identifies comprehensive evidence on the economic burden of EDS in the United States (US).
METHODS: Systematic searches were conducted in Embase®, MEDLINE®, and MEDLINE In-Process to identify English-language articles published 2015 onwards and reporting the economic burden (cost and resource use) of EDS in children and adults in the US.
RESULTS: From 311 records screened, five studies were included. Using the MarketScan® claims database, the mean annual healthcare costs for adults with EDS were $32,800 in 2021, with vascular EDS patients incurring higher mean costs of $70,400 compared to $32,100 for other subtypes. Another study reported median (IQR) total expenses of $13,450 (6500-25,800) in 2022, with median (IQR) direct expenses of $12,100 (5,400-21,600), largely attributed to health insurance premiums, diagnostic tests, and physical therapy. Costs for treating clinical events in vascular EDS patients ranged from over $15,000 (arterial aneurysm) to $146,000 (intestinal perforation). Comorbidities such as dysautonomia, gastrointestinal disorders, and chronic pain added annual costs ranging from $3,400 to $12,400 per patient. The median (IQR) visits to primary care and specialty physicians were 5 (3-10) and 12 (6-25), respectively. Healthcare resource use included visits across multiple specialties, with cardiology (12%), neurology (8%), gastroenterology (7%), and emergency medicine (7%) being commonly utilized. Many patients attended more than one healthcare facility, with 44% seeking care at multiple institutions.
CONCLUSIONS: Patients with EDS face high healthcare costs, fragmented care, and unmet needs. Multidisciplinary clinics may improve care coordination and outcomes. Further research is needed to better understand and address this condition's economic burden and healthcare challenges.
METHODS: Systematic searches were conducted in Embase®, MEDLINE®, and MEDLINE In-Process to identify English-language articles published 2015 onwards and reporting the economic burden (cost and resource use) of EDS in children and adults in the US.
RESULTS: From 311 records screened, five studies were included. Using the MarketScan® claims database, the mean annual healthcare costs for adults with EDS were $32,800 in 2021, with vascular EDS patients incurring higher mean costs of $70,400 compared to $32,100 for other subtypes. Another study reported median (IQR) total expenses of $13,450 (6500-25,800) in 2022, with median (IQR) direct expenses of $12,100 (5,400-21,600), largely attributed to health insurance premiums, diagnostic tests, and physical therapy. Costs for treating clinical events in vascular EDS patients ranged from over $15,000 (arterial aneurysm) to $146,000 (intestinal perforation). Comorbidities such as dysautonomia, gastrointestinal disorders, and chronic pain added annual costs ranging from $3,400 to $12,400 per patient. The median (IQR) visits to primary care and specialty physicians were 5 (3-10) and 12 (6-25), respectively. Healthcare resource use included visits across multiple specialties, with cardiology (12%), neurology (8%), gastroenterology (7%), and emergency medicine (7%) being commonly utilized. Many patients attended more than one healthcare facility, with 44% seeking care at multiple institutions.
CONCLUSIONS: Patients with EDS face high healthcare costs, fragmented care, and unmet needs. Multidisciplinary clinics may improve care coordination and outcomes. Further research is needed to better understand and address this condition's economic burden and healthcare challenges.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
EE325
Topic
Economic Evaluation
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, SDC: Rare & Orphan Diseases