Ehlers-Danlos Syndrome

Last Updated: August 14, 2023

Ehlers-Danlos syndrome (EDS) is a group of genetic connective tissue disorders with variable presentation depending on the type of genetic mutation. Hypermobile EDS is the most common. The mainstay of treatment is preventing injury with lifestyle choices.

What is Ehlers-Danlos syndrome (EDS)?

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders caused by faulty collagen synthesis; it affects the connective tissues and leads to symptoms such as overly elastic skin, joint hypermobility, and fragile blood vessels. In 2017, 13 variants of EDS were classified, and 12 had distinct genetic characteristics.

What are the main signs and symptoms of Ehlers-Danlos syndrome (EDS)?

Ehlers-Danlos syndrome (EDS) has various signs and symptoms depending on the type; hypermobile EDS (hEDS) is characterized by overly flexible joints, stretchy skin, and excessive bruising. It can lead to secondary complications like chronic pain, dysautonomia, and anxiety, and serious complications may occur in vascular and kyphoscoliotic EDS, necessitating regular monitoring.

How is Ehlers-Danlos syndrome (EDS) diagnosed?

Ehlers-Danlos syndrome (EDS) is typically suspected based on clinical signs like skin hyperextensibility and shoulder dislocation, though many milder cases may remain undiagnosed. Diagnosis can be confirmed through genetic testing, although the most common type, hypermobile EDS, lacks a known genetic cause.

What are some of the main medical treatments for Ehlers-Danlos syndrome (EDS)?

There is no cure for Ehlers-Danlos syndrome (EDS); treatment focuses on managing symptoms and preventing damage and often involves pain medications and supportive devices. Regular monitoring by specialists and preventative measures for cardiovascular complications are also recommended.

Have any supplements been studied for Ehlers-Danlos syndrome (EDS)?

Dietary supplements have not been formally studied for Ehlers-Danlos syndrome (EDS), but they may be recommended to address nutritional deficiencies and manage symptoms. For instance, vitamin D is often suggested due to its association with hypermobile EDS, and other supplements like vitamin C, glucosamine, carnitine, and coenzyme Q10 have been used anecdotally for various symptoms.

What's the connection between diet and Ehlers-Danlos syndrome (EDS)?

People with hypermobile Ehlers-Danlos syndrome (hEDS) often experience gastrointestinal issues that can lead to poor nutrient intake and unintended weight loss. Dietary changes, like adopting a low-FODMAP diet and increasing soluble fiber, may help alleviate these GI symptoms.

Are there any other treatments for Ehlers-Danlos syndrome (EDS)?

Treatment for Ehlers-Danlos syndrome (EDS) focuses on preventing complications through physical and occupational therapy, along with regular moderate exercise. These approaches aim to prevent joint dislocations, preserve joint function, reduce chronic pain, and slow the onset of osteoarthritis.

What causes Ehlers-Danlos syndrome (EDS)?

Ehlers-Danlos syndrome (EDS) is caused by inherited gene mutations that affect collagen processing and synthesis, and leads to various EDS variants with distinct symptoms. These mutations can result in significant vulnerability of body organs and an increased risk of injury from normal activities.

Supplements Demystified: Get Our Unbiased, Evidence-Based Guide

Don't miss out on the latest research

Update History
References
  1. ^Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle BThe 2017 international classification of the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet.(2017-03)
  2. ^Miklovic T, Sieg VCEhlers-Danlos SyndromeStatPearls.(2023-01)
  3. ^Do T, Diamond S, Green C, Warren MNutritional Implications of Patients with Dysautonomia and Hypermobility Syndromes.Curr Nutr Rep.(2021-Dec)
  4. ^Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PHThe Ehlers-Danlos syndromes.Nat Rev Dis Primers.(2020 Jul 30)
  5. ^What is HSD?
  6. ^National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Care Services; Committee on Selected Heritable Disorders of Connective Tissue and Disability, Roberta A. Wedge, Tom Cartaxo, Carol Mason Spicer, Paul A. VolberdingSelected Heritable Disorders of Connective Tissue and Disability