The main objectives of the handout are to inform patients and professionals how to recognize EDS, patients able to follow these steps for self-assessment and awareness of general therapies:   
 

1. A first consideration is to ask if you might have EDS, realizing that many of the symptoms (double-jointedness, joint pain, skin elasticity, fatigue, anxiety, bowel irregularity) are subjective. You are asked to look at the IHAVEDS acronym symptoms listed elsewhere on this website.

2. If some of your symptoms match those of the acronym, then forms with checklists of 80 physical and 40 physical findings are provided for you to fill out. A natural/family history form is also provided so you can list your major symptoms, their onset, and the presence of EDS findings in family members.

3. You can then compare your numbers of typical history-physical findings with those of EDS females and males of comparable age (all over age 10 because Dr. Wilson has found that children under 10 are difficult to diagnose).

4. The information handout provides general therapy recommendations but emphasizes that Dr. Wilson does not have the subspecialty (cardiology, GI, allergy-mast cell, orthopedics, rheumatology, pain management) knowledge to make specific therapy recommendations. This is where the services of my partners Christie Cox and APRN Katie Volkers can be helpful, also the many presentations at the EDS awareness website. Brad Tinkle’s pioneering work on EDS summarized in his Joint Hypermobility Handbook, Left Paw Press 2010 also has more detailed treatment recommendations.
    

Also included in the information handout is an approach to understanding EDS as a spectrum of joint-tissue laxity, neuromuscular, and autonomic findings that result from central articular (joint)-autonomic (adrenaline) mechanisms produced by a network of gene changes.
Dr. Wilson’s approach to EDS thus differs from others in the following ways:
 

1. Autonomic imbalance, deriving from adrenergic response to vessel distensibility and lower body blood pooling, is an integral part of EDS rather than an occasional and ancillary phenomenon (see the articulo-autonomic cycle shown below).

2. Therefore, a systematic evaluation, including the tissue laxity and neuro-autonomic findings listed on his history-physical forms, is necessary to provide holistic diagnosis and therapy for EDS. This avoids partial, superficial, and symptom-based diagnoses like fibromyalgia, anxiety disorder, or the POTS/IBS-related chronic fatigue syndrome and its falsely objectified misnomer of myalgic encephalomyelitis.

3. Accordingly, numerous genes with impact on joint-skeleton, bone, skin dermis-urogenital mesenchyme/endothelium, heart, vessel, and muscle have participated in the ancient evolution of connective tissue (first glueing cells together as metazoans) and must be variously altered to cause its unraveling (dysplasia). Multiple genes acting in network fashion govern the structure of connective tissue and its neuro-autonomic interactions (connective tissue is medium and message) along with environmental factors like strain on joints, gravity on skeleton, stress or inflammation adding to dysautonomia.

4. It follows that hypermobile EDS must have many gene changes. Many of them alter muscle support/constraint of connective tissue and produce a myopathic or mEDS phenotype, as shown by Dr. Wilson’s EDS patients with myopathic (e. g., COL6/12) or mitochondrial gene changes.

5. No type of EDS is always produced by changes in one gene—mutations in different places of a gene produce different phenotypes as shown by Dr. Wilson’s many patients with COL5 gene changes and hypermobile EDS.

6. The most sensitive DNA testing for EDS patients is thus whole exome sequencing that screens all 23,000-plus human genes for DNA nucleotide changes. Dr. Wilson’s database includes 906 EDS patients that have had whole exome sequencing, the reason he has found many gene changes in patients with h- or cEDS.
    

The handout also reviews different types of DNA testing and emphasizes the following points:

1. It is the clinical profile that defines the type of EDS, not the gene that is altered (9 of Dr. Wilson’s EDS patients had COL3 gene changes, none with the lethal pattern of vascular EDS).

2. EDS patients should also realize that 40% of Dr. Wilson’s patients who have whole exome sequencing had no DNA results that were judged significant (this does not exclude genetic predisposition because the DNA between genes (the “dark genome” is not screened). In addition, the EDS-challenged Company geneticists who qualify DNA results will often use the unhelpful term: “variant of uncertain significance.”

3. DNA testing should therefore be performed with these qualifications (literally) in mind. When a DNA result is found and appropriately qualified as significantly contributing to EDS, then it can support the clinical diagnosis, tell a person what risks they have to transmit their DNA change to offspring while realizing that effects are individually variable, and identify young people at risk so they can have anticipatory monitoring and preventive health care.

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