Have you ever heard of comorbidities? In short, comorbidities mean the presence of more than one disease or condition in someone at a time. For example, arthritis and heart disease are often comorbidities. Alternately, previous research has noted that people with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobile spectrum disorder (HSD) are associated with immunoglobulin deficiencies and mast cell activation disease (MCAD). 

Within this particular study, researchers wanted to evaluate this connection and determine whether MCAD and antibody deficiencies were more common in those with hEDS or HSD. Ultimately, they determined that MCAD was commonly associated with hEDS – perhaps due to the nature of tissue strength and tissue damage. 

If you would like to take a look at the full study findings, they can be found in the American Journal of Medical Genetics’ Seminars in Medical Genetics.

hEDS and Immune Problems

As a note, hEDS and HSD are separate conditions. hEDS is the most common form of Ehlers-Danlos syndrome. It is characterized by joint hypermobility, swelling, soft and fragile skin, and an increased risk for dislocated joints. Alternately, those with HSD do experience joint hypermobility but lack the necessary symptoms or characteristics to receive a hEDS diagnosis. 

To begin analyzing the link between hEDS and MCAD, researchers analyzed data from 974 patients sourced over a 4-year period. Of the patients, 721 were female. Findings include:

• 496 patients had some combination of either hEDS/HDS and MCAD; MCAD and immunoglobulin deficiencies; or hEDS/HDS and immunoglobulin deficiencies.
• Another 181 patients had hEDS/HDS, MCAD, and immunoglobulin deficiencies.
• Females were 4x more likely to have both MCAD and hEDS as opposed to males. This feels very accurate considering that females are often significantly more affected by autoimmune conditions than males. 
• Mast cells may be activated in response to tissue damage in an attempt to protect the body from further harm or foreign invaders. Since those with hEDS or HDS may have fragile skin and tissues, researchers believe MCAD may be the body’s response to chronic tissue problems. Because of this, researchers believe that those with hEDS may experience more symptomatic MCAD, including asthma, hives, or even gastrointestinal distress. 

Ultimately, researchers did find an association between hEDS and MCAD, or other immune issues. Because of this, the researchers suggest that those with hEDS or HSD should be screened for other conditions. At the same time, the researchers acknowledge that more studies are needed moving forward to better understand the underlying nature of tissue damage in hEDS to craft more targeted treatment options. 

About Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome (EDS) refers to a group of inherited connective tissue disorders. Connective tissue helps support multiple systems and organs throughout your body, as well as body tissue, blood vessels, skin, and bones. In EDS, the conditions manifest due to inherited defects in collagen and related proteins. According to the Ehlers-Danlos Society, there are currently 13 different EDS subtypes. While symptoms vary based on subtypes, some common symptoms include:

• Soft, velvet-like, fragile skin that is highly elastic
• Easy bruising and skin tearing
• Poor wound healing
• Hernias
• Sudden vessel rupture
• Internal bleeding
• Joint, muscle, and nerve pain (alongside joint deformity)
• Pregnancy-related complications
• Heart rhythm disorders