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Are Ehlers-Danlos Syndrome (EDS) and Lupus Related?

Updated:
October 2024
by
David Harris


Introduction to EDS and Lupus

Ehlers-Danlos syndrome (EDS) and lupus (systemic lupus erythematosus, or SLE) are two complex medical conditions with distinct causes. However, both can affect connective tissues in various parts of the body, leading many to wonder if there is a connection between them. Though EDS is primarily genetic, and lupus is an autoimmune disease, studies show a higher prevalence of autoimmune diseases like lupus in people with EDS, especially the hypermobile type (hEDS). This has sparked interest in exploring whether there is a deeper connection between these conditions.

Understanding Ehlers-Danlos Syndrome

EDS is a group of heritable disorders affecting connective tissue, which supports and structures the skin, blood vessels, bones, and other organs. The hypermobile type (hEDS) is the most common, characterized by overly flexible joints that easily dislocate, stretchy skin, and various systemic issues. While EDS is known to be caused by mutations in genes affecting collagen and other connective tissue components, researchers are still working to fully understand its genetic underpinnings​​.

Common symptoms of EDS include joint pain, frequent joint dislocations, fatigue, and fragile skin. Additionally, many patients with hEDS experience widespread pain similar to that seen in rheumatic diseases​​. In fact, studies have shown a significant overlap between hEDS and rheumatic diseases, including rheumatoid arthritis, ankylosing spondylitis, and systemic lupus erythematosus​.

Understanding Lupus

Lupus is an autoimmune disease in which the body’s immune system mistakenly attacks healthy tissue, causing inflammation, pain, and damage in areas such as the joints, skin, kidneys, and heart. Common symptoms include joint pain, skin rashes, fatigue, and organ inflammation. Because lupus is an autoimmune disorder, its triggers can be linked to genetic factors, environmental triggers, and hormonal changes. Like EDS, lupus disproportionately affects women, particularly during their reproductive years​​.

Exploring the Connection Between EDS and Lupus

There is no direct causative link between EDS and lupus, but some evidence suggests an association. Studies indicate that autoimmune diseases like lupus may be more common in people with EDS than in the general population. For instance, a study found that a significant number of patients with hypermobile EDS (hEDS) also had autoimmune conditions, including systemic lupus erythematosus​.

The reasons behind this connection are not entirely clear, but researchers hypothesize that immune dysregulation might play a role. In EDS, the structural weaknesses in connective tissue could lead to chronic inflammation, which may trigger autoimmune reactions in some individuals​. Another theory involves maternal-fetal cell trafficking, where fetal cells remain in the mother’s body after pregnancy and may contribute to autoimmune diseases like lupus​.

Autoimmune Disease and EDS: A Complex Relationship

Though EDS is primarily a genetic disorder, many patients report symptoms resembling autoimmune conditions. Misdiagnosis is common, with some individuals initially being treated for lupus before receiving an EDS diagnosis​. In one case, a woman was treated for lupus for seven years, only to discover later that she likely had EDS instead​. This highlights the diagnostic challenges when symptoms like joint pain, fatigue, and rashes overlap.

While EDS itself is not an autoimmune disease, its frequent association with conditions like lupus suggests that people with EDS may be at higher risk for developing autoimmune disorders. In fact, some studies recommend that patients with hEDS undergo comprehensive evaluations to rule out coexisting autoimmune diseases like lupus​​.

The Importance of Proper Diagnosis and Management

Managing both EDS and lupus can be challenging due to overlapping symptoms like joint pain, fatigue, and skin issues. For patients who have both conditions, treatment must address both the genetic aspects of EDS and the autoimmune inflammation of lupus. It’s essential for healthcare providers to distinguish between the two to develop the best treatment strategy​​.

While there is no cure for EDS or lupus, treatment focuses on managing symptoms and preventing complications. For lupus, this often involves medications to suppress the immune system and reduce inflammation. In EDS, treatment may include physical therapy to manage joint instability, pain management, and other supportive measures​​. When both conditions are present, the combination of therapies must be carefully tailored to avoid worsening symptoms from either condition​.

Managing Medications in EDS and Lupus

People with EDS may be prescribed a range of medications, including anti-inflammatory and immunomodulatory drugs, similar to those used in lupus management. A study found that patients with EDS were more likely to be prescribed these medications than the general population, further illustrating the overlap in symptoms and treatment between the two conditions​. Nonsteroidal anti-inflammatory drugs (NSAIDs) and steroids are frequently used to manage joint pain and inflammation, although careful monitoring is needed to avoid side effects​.


FAQs

Are EDS and lupus related?

While EDS and lupus are different conditions, they share common symptoms and can co-occur. EDS is a genetic disorder affecting connective tissue, while lupus is an autoimmune disease. Some studies suggest that people with EDS may be at a higher risk of developing autoimmune diseases like lupus.

What autoimmune diseases are associated with Ehlers-Danlos syndrome?

In addition to lupus, people with EDS may be at higher risk for conditions like rheumatoid arthritis, Sjögren's syndrome, and ankylosing spondylitis​​.

Should EDS patients see a rheumatologist?

Yes, it’s often recommended that patients with EDS, especially hypermobile EDS, see a rheumatologist to evaluate for coexisting autoimmune diseases. Rheumatologists can help manage symptoms like joint pain and inflammation​​.

What are the comorbidities of EDS?

EDS is frequently associated with conditions like mast cell activation syndrome (MCAS), fibromyalgia, and various autoimmune diseases, including lupus and rheumatoid arthritis​​.

What is a common misdiagnosis of Ehlers-Danlos syndrome?

EDS is often misdiagnosed as fibromyalgia, chronic fatigue syndrome, or autoimmune diseases like lupus, due to overlapping symptoms such as widespread pain and fatigue​​.


References

  1. Halverson CME, Cao S, Perkins SM, Francomano CA. Comorbidity, Misdiagnoses, and the Diagnostic Odyssey in Patients with Hypermobile Ehlers-Danlos Syndrome. Genetics in Medicine Open. 2023. DOI: 10.1016/j.gimo.2023.100812
  2. Branch CE, Swift TR. Systemic Lupus Erythematosus, Myasthenia Gravis, and Ehlers-Danlos Syndrome. Annals of Neurology. 1978;4(4):374-375. DOI: 10.1002/ana.410040416
  3. Hein LC, DeGregory CB, Umari F. Ehlers-Danlos Syndrome: It’s Not Your Normal Hoofbeats. Journal for Nurse Practitioners. 2019;15(4):277-281. DOI: 10.1016/j.nurpra.2019.01.006
  4. Dhingra R, Hakim A, Bascom R, Francomano C, Schubart J. Prescription Claims for Immunomodulator and Anti-inflammatory Drugs Among Persons with Ehlers-Danlos Syndromes. Arthritis Care Res. 2023;75(5):1183-1188. DOI: 10.1002/acr.24819
  5. Rodgers KR, Gui J, Dinulos MBP, Chou RC. Ehlers-Danlos Syndrome Hypermobility Type is Associated with Rheumatic Diseases. Scientific Reports. 2017;7:39636. DOI: 10.1038/srep39636

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