WHY diagnosis and HOW diagnosis?
Why is a diagnosis of hEDS/HSD important?
(Provided by CORTNEY GENSEMER, PHD)
A misconception that I often hear is that an evaluation and official diagnosis doesn’t matter if there aren’t FDA-approved therapies or cures for Ehlers-Danlos Syndromes (EDS). This idea persists not only within the EDS patient community but also among healthcare providers. While it’s true that there aren’t any direct treatment options or cures outside of symptom management and screening (yet), a diagnosis is still important. Here's why it matters more than you might think:
Validation: Living with EDS comes with a lot of challenges, both physical and emotional. A diagnosis validates these experiences and for many people it can be the first time they receive answers for their health in years, even decades.
Screening and Preventative care: Screening for conditions such as aortic dilation (especially in vEDS), ocular health concerns like retinal detachment, and other conditions can be crucial in EDS management. Early diagnosis facilitates prompt screening, allowing for timely intervention and reducing the risk of life-threatening events. Preventative care can also include physical therapy to protect the joints from future damage and injury.
Access to Experts: Healthcare providers who understand EDS can be difficult to find. With a diagnosis, comes the ability to find providers/receive referrals to providers who can offer treatment strategies to help manage your symptoms and improve your quality of life.
Emergency Care: In emergencies or accidents, health symptoms can be due such as dislocations or vascular incidents and healthcare providers must be aware of the patient's EDS diagnosis to provide appropriate care. This knowledge can prevent unnecessary delays in treatment and minimize the risk of complications. Without a diagnosis, EDS-related causes could be overlooked.
Family Planning & Genetic Testing: EDS is inherited, and a diagnosis provides information for family planning decisions. It empowers individuals to make informed choices about reproduction and facilitates genetic testing for other family members (for all types of EDS except for hEDS).
Surgical Care: An EDS diagnosis ensures that healthcare providers are aware of the patient's condition, enabling them to take necessary precautions and employ specialized techniques during surgical procedures for better outcomes.
Comorbidity Awareness: EDS often coexists with other conditions such as Mast Cell Activation Disorder (MCAD), Postural Orthostatic Tachycardia Syndrome (POTS) and gastrointestinal manifestations. A diagnosis of EDS may indicate to providers if some symptoms could be caused by well-known comorbidities and allow providers to address them effectively with a picture of your overall health.
Educational Resources and Support: A diagnosis opens doors to educational resources and support networks tailored to individuals with EDS. From online communities to local support groups, access to these resources can empower patients with knowledge and connect them with others facing similar challenges.
Advocacy and Awareness: With a diagnosis (although it is certainly not required here), individuals with EDS can become stronger advocates for themselves and the EDS community. They can raise awareness about the condition, and advocate for improved research and healthcare.
Research Participation: Research study participation is only inclusive of those with a diagnosis. If patients wish to participate in studies and play a rule in advancing scientific understanding and improving outcomes for future generations, a diagnosis is necessary.
2. How to get a diagnosis
Currently there are 14 kinds of Ehlers Danlos syndromes that have been identified and characterized. Of those, 13 have a genetic marker that has been identified. The most common kind that is diagnosed (80-90%) of those with EDS have hypermobile EDS (hEDS). Diagnosis for hEDS is considered a “clinical diagnosis” meaning that a provider makes the diagnosis given the typical clinical presentation. The best tool we have today is the 2017 hEDS diagnostic criteria worksheet which can be found here. Medical providers can use this worksheet to provide a medical (clinical) diagnosis. any medical doctor (who can take you through the criteria themselves or who agrees with the assessment and documentation of another provider) can sign the diagnostic worksheet and assign you the diagnosis. PLEASE NOTE: The criteria listed on this worksheet are under review and are likely changing given all that we have learned about the typical clinical presentation since 2017. If you don’t qualify today, you may sometime in the future.
Enter your information in a tool called “The Spider” here that will help you and your health care providers identify and address the issues that most both you. If you do it in the “Excel” document, it will automatically tabulate your results and create your “spider web” tool.
EDS can be suspected when…
“J.U.S.T. G.A.P.E.”
(…because it’s been right in front of you all the time!)
JUST Joints (and Unstable Soft Tissues)
G Gut
A Allergy/Autoimmune
P Postural Symptoms
E Exhaustion
JUST (joint, unstable, soft, tissues): Does the patient (or their family) have a lot of trouble with their joints, tendons, ligaments and muscles? e.g. hypermobility, dislocations, ‘fibromyalgia’, chronic pain, TMJ dysfunction, ‘clicky’ hips at birth, multiple tendinopathies/enthesopathies including spondyloarthritis (Rotator cuff tendinopathy, lateral epicondylitis (tennis elbow), medial epicondylitis (golfer’s elbow), work-related upper limb disorder (repetitive strain injury), Greater Trochanteric Pain Syndrome, Iliotibial Band Syndrome, patellar tendon problems (including Osgood-Schlatter disease), Achilles tendon problems, plantar fasciitis, acquired pes planus, ankylosing spondylitis, psoriatic arthritis, reactive arthritis and undifferentiated spondyloarthritis)
G (gut): Do they have a functional gut disorder or malabsorption? e.g. Irritable Bowel Syndrome, intermittent dysphagia or globus, oesophageal reflux or spasm, dyspepsia, nausea, vomiting, recurrent abdominal pain, bloating, constipation, diarrhoea, urgency, fast or slow gastro-intestinal transit, steatorrhoea, unexplained weight loss, unexplained nutrient or vitamin deficiencies
A (allergies): Do they have asthma/eczema/hayfever/rhinitis, multiple food/drug/other allergies or intolerances, itching or urticaria, or more than one autoimmune condition? e.g. anaphylaxis, any chronic urticarial condition such as polymorphic light eruption, hives, dermatographia, flushing, MS, thyroid disease, coeliac disease, Crohn’s disease, Ulcerative Colitis
P (positional): Do they experience symptoms when standing that are usually relieved by lying down? These symptoms may include light-headedness, fast palpitations, fatigue, shaking, sweating, breathlessness, fainting or headaches.
E (exhaustion): Do you feel exhausted a lot of the time, or that you can’t seem to think as clearly as normal? e.g. fatigue, ‘tired all the time’, CFS/ME (Chronic Fatigue Syndrome or Myalgic Encephalitis), ‘brain fog’, ‘fibro fog’, memory/reasoning/word-finding/concentration problems which vary from day to day, falling asleep after meals
Reference: Emma Reinhold and Lisa Jamieson, June 2018