When your patient has signs of Ehlers Danlos Syndrome

I am a certified nurse-midwife and women's health nurse practitioner who was not diagnosed with Ehlers Danlos Syndrome until the age of 55. All of the signs and symptoms were there since childhood, and I often sought medical care for conditions that pointed directly to the diagnosis. EDS, however, is an uncommon and largely underdiagnosed condition that slips under the radar of even conscientious providers. The evidence for my condition was right there in front of them, but they saw only the presenting complaints, not the condition that created them. Likewise, I am a highly educated medical professional, and I too failed to put my own puzzle together. 

Clinicians (doctors, nurse practitioners, physician assistants, nurses, physical therapists) can change the lives of people with undiagnosed Ehlers Danlos Syndrome (EDS) by noticing the clinical signs and referring appropriately. Many people with EDS go their whole lives without ever realizing that they have a connective tissue disorder. If they are unaware of the condition, they are more likely to suffer pain, dysfunction, and disability. Getting proper treatment can make a lifetime of difference for these people. Individuals with Ehler's Danlos Syndrome can have manifestations of the disease in virtually any bodily system: musculoskeletal, autonomic nervous system, integumentary, cardiovascular, digestive, respiratory, neurologic, and so on.  

• They may have loose joints. Hypermobility is the tendency for a joint to move beyond its normal range of motion. Flexibility is a good thing when it is coupled with strength. When the person has weak muscles or an imbalance of strength, joints move too far and injury can occur. Shoulders, elbows, wrists, fingers, sacroiliac joints, hips, knees, ankles, and feet may develop subluxations, locked movement, acute or chronic pain or frequent injury. The person may report joint dislocations that occur with minimal provocation.
• They may have chronic pain. Often, the person has been dismissed or labeled by other providers as drug-seeking because they appear outwardly healthy. But Ehlers-Danlos Syndrome involves joints that shift and place pressure on nerves, sending referred pain to unaffected regions. It involves spasm as  muscles clench to compensate for excessive joint movement. Often people with Ehlers Danlos must adjust to a baseline level of pain which is present every day, no matter how well they appear to be functioning.  And yes, some individuals are drug-seeking, hoping to get some relief.  Some individuals turn to substance abuse to achieve some level of comfort to get though the day.  But most are uncomfortable and are simply seeking a strategy to lessen the pain. Physical therapy with a provider familiar with EDS can be a godsend. 
• They may have hernias and pelvic prolapses.
• They may have numerous dental cavities. People with EDS are also often less sensitive to Novocain.
• They may have wide, flat scars. Even small cuts may leave prominent scars.  Often there are large  scars on the knees from childhood falls.
• They may have orthostatic tachycardia or POTTS. Some people with EDS faint frequently.
• They may have easy or unexplained bruising. People with vascular EDS often have large bruises in various stages of healing with poor recall as to how they occurred.
• They may have delayed gastric emptying and slow gut motility. They may have difficulty swallowing.
• They may have a diagnosis of fibromyalgia. The muscles of a person with EDS are often rigid from holding joints in place and may have painful trigger points.
• They may have chronic fatigue, anxiety, depression. Wouldn't you if you were struggling, quite literally, to "hold it together" every day?
• They may have Mast Cell Activation Disorder,  a condition in which the mast cells in the body release too much of the substances that cause allergy symptoms.
• They may have obstructive sleep apnea if soft tissue or excessive neck flexion impinges on the airway during sleep.
• They may have poor proprioception and have trouble knowing where the body is in space. They are prone to misjudging distances and walking into doors, chairs, etc.
• They may have family members with the disorder. EDS is autosomal dominant. Statistically, if a person has EDS, at least half of their children will have it as well. Ask about other family members with these symptoms.

Suspect your client might have EDS if you come into the exam room and the person is sitting in some weird position. And you’re thinking how can that be comfortable? The person with EDS adopts unusual positions to relieve pain and tension elsewhere in the body. 
​Suspect EDS when your young adult client develops cystoceles, rectoceles, and other pelvic support problems. Pelvic support problems can even occur in nulliparous teenager with EDS.
Suspect EDS if your obstetric client has a separated symphysis or other pelvic girdle issues. A person with EDS is three times more likely to require treatment for pelvic girdle pain and instability.
Suspect EDS if your client has a precipitous delivery. Labor is all about overcoming the resistance of maternal tissue. A mother with stretchy tissue may dilate rapidly.
Suspect EDS if your client has massive varicose veins in the legs and vulva.
Suspect EDS if your client has uncommonly velvety soft skin. The skin of the face may have a more youthful appearance, but the hands may appear more aged and wrinkled. The skin may be abnormally stretchy. 

You can change this patient's life by making appropriate referrals. If a connective tissue disease is present, the sooner a diagnosis and care plan is made, the better a lifelong quality of living this person will have.  Referral to the primary care physician is a good starting point. Some people will require a referral to a geneticist to identify which disease process is present and determine the characteristics of the disease. Some people will require referral to physical therapy, a rheumatologist, a gastroenterologist, a cardiologist, an orthopedist, or other professionals. A structured, professionally-devised  exercise program is critical for the person with Ehlers Danlos Syndrome. Low-impact cardio such as swimming or elliptical with a regimen of strength training can extend the number of healthy years for these people, reduce the risk of joint damage and dislocations, and reduce chronic pain. 

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