Cardiovascular Impact on Heart, Autonomic Nervous System and Blood Circulation

Current State on Dysautonomia and POTS in the Context of Hypermobility and Ehlers-Danlos Syndrome

Prevalence and Symptoms

Dysautonomia, which includes conditions like Postural Orthostatic Tachycardia Syndrome (POTS), is increasingly recognized among individuals with hypermobility and Ehlers-Danlos Syndrome (EDS). Research indicates that the prevalence of POTS in people with hypermobile EDS (hEDS) or other hypermobility spectrum disorders (HSD) may range from 30% to 80% [Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3996294/]. This wide range is attributed to varying diagnostic criteria and differences in patient cohort study populations. It has been noted in young women across the hypermobility spectrum in this research [Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305471/].

Symptoms of POTS often include an abnormal increase in heart rate upon standing, accompanied by dizziness, lightheadedness, fatigue, palpitations, and sometimes syncope (fainting). Additional symptoms of dysautonomia can include gastrointestinal disturbances, temperature regulation issues, cognitive impairment (“brain fog”), and chronic pain.

Theories on the Link Between POTS and Hypermobile EDS

From recent research published by the MUSC Norris Lab on the prevalence and commonly found multimorbidities, links are becoming more known today. Several theories have been proposed but not yet proven with current medical research to explain the connection between POTS, dysautonomia, and hypermobile EDS:

1. Connective Tissue Abnormalities: EDS is a disorder of connective tissue, which is found throughout the body, including in blood vessels. The laxity of connective tissues in EDS may contribute to poor vascular tone, leading to blood pooling in the lower extremities and, consequently, the symptoms of POTS.
2. Autonomic Nervous System Dysfunction: The autonomic nervous system, which controls involuntary bodily functions, may be inherently dysfunctional in individuals with hEDS due to genetic or developmental factors. This dysfunction could be exacerbated by the physical stress placed on the body by hypermobility.
3. Immune System and Inflammatory Responses: There is growing interest in the role of the immune system and chronic inflammation in POTS. Some researchers hypothesize that autoimmune responses could be involved, such as the common comorbidity of Sjogren’s, as POTS patients sometimes exhibit markers of autoimmune activity, and immune dysregulation is also seen in EDS.
4. Genetic Factors: Emerging research suggests that genetic mutations may play a role in the development of both EDS and POTS. Studies are ongoing to identify specific genetic markers that could explain the comorbidity of these conditions.

Latest Medical Research on POTS

Recent studies have focused on understanding the underlying mechanisms of POTS in the context of hypermobility and EDS and is an ongoing major focus for researchers searching for answers:

• Genomic Studies: Research is advancing in identifying specific genes that may predispose individuals to both hEDS and POTS. The National Institutes of Health (NIH) and other research bodies are conducting more and more studies to better understand the genetic links. Studies have shown common phenotypic clusters and multimorbidity related to hypermobile EDS patients. The Norris Lab at MUSC recently published a paper theorizing a phenotypye seen in their hEDS patient registry, the largest in the world.
• Autonomic Testing: Improved diagnostic tools and methods, such as advanced autonomic function testing, are helping to better define the types of autonomic dysfunction present in EDS patients.
• Therapeutic Interventions: Ongoing trials are investigating the effectiveness of various treatments, including beta-blockers, ivabradine, and non-pharmacological approaches like exercise therapy, biofeedback and vagus nerve toning exercises that are custom tailored to individuals with joint hypermobility.
• Immune System Research: Investigations into the role of autoimmunity and chronic inflammation in POTS are underway, with some studies exploring the potential benefits of immune-modulating therapies. Much more research is needed in this area.

Primary Nonprofits and Advocacy Organizations

Several nonprofits and advocacy organizations are at the forefront of research, patient support, and education regarding POTS, dysautonomia, and their connection to hypermobility and EDS:

1. Dysautonomia International: A leading nonprofit dedicated to advancing research, providing support, and raising awareness of all forms of dysautonomia, including POTS. They fund research grants, host conferences, and offer resources for patients and healthcare providers.
2. Dysautonomia Support Network: A nonprofit focused on helping patients find daily coping mechanisms for life affected by dysautonomia.
3. The EDS Research Foundation: Focuses on supporting research into the mechanisms and treatment of EDS and related conditions, including the link between EDS and dysautonomia.
4. POTS UK: A UK-based organization that supports patients with POTS, raises awareness, and works to improve diagnosis and treatment options within the National Health Service (NHS).
5. The Autonomic Disorders Consortium: Funded by the NIH, this consortium includes several institutions dedicated to researching autonomic disorders, with a focus on improving diagnosis, treatment, and understanding of conditions like POTS.

The intersection of POTS, dysautonomia, and hypermobility in EDS remains an area of active research and significant patient interest. As understanding grows, so too does the hope for more effective treatments and improved quality of life for those affected by these complex, interrelated conditions, including POTS, dysautonomia, or autonomic dysfunction. The extreme increase in recognition of cases likely due to post-infection onset called long COVID, has increased recent funding that is on the edge of answers. The ongoing efforts of nonprofits, coupled with the latest medical and scientific research, continue to push the boundaries of knowledge, bringing us closer to answers and better care.

Related Podcasts

Here’s a list of podcasts related to POTS (Postural Orthostatic Tachycardia Syndrome), with links to their websites or podcast platforms:

• The POTScast – Hosted by Standing Up to POTS, this podcast specifically addresses Postural Orthostatic Tachycardia Syndrome, featuring interviews with experts and individuals living with POTS.