Joint pain, nausea, dizziness, bloating, palpitations, urticaria, headache, and fatigue. Surely this must be a list of the chief concerns for each of your first eight patients for the day.
No, these chief concerns all belong to your very first patient of the day. A new patient is scheduled for a 20-minute slot.
How will you possibly get out of the room in time? How can you ever help this young woman? Your day is overbooked already, and now this. How could these bizarre, polysystematic symptoms possibly be related?
Surely this must be psychiatric and not physical.
What about connective tissue? The “glue” that holds the entire body together. The beautiful substance that wanes with age, causing wrinkles, sagging skin, delayed healing, easy bruising, and so much more.
Could that be the culprit? Can musculoskeletal, gastrointestinal, cardiac, allergic, and neurologic complaints possibly be related? But these are all different systems, aren’t they?
Welcome to living in an Ehlers-Danlos syndrome body!
Let the fun times begin.
Ehlers-Danlos syndromes (EDS) are the most common group of hereditary disorders of connective tissue that most of us learned a sentence or two about in medical school. What were we taught? These rare conditions involve easy bruising and an increased risk for aortic aneurysms (so be sure and order that echocardiogram). If you graduated in the 20th century like me, you did not learn much else. We were not told about the multitude of effects conditions like EDS can have or even to evaluate for joint hypermobility and instability, cardinal signs of a potential connective tissue disorder.
Our knowledge about the Ehlers-Danlos syndromes accelerated over the past decade, particularly as the field of genetics has exploded and impacted every area of clinical medicine. How many subtypes of EDS did you learn about? I don’t even think we had subtypes when I was in medical school.
Officially, 13 subtypes of EDS have been discovered, with a 14th subtype awaiting classification. The most common subtype by far, hypermobile EDS (hEDS), remains the only subtype for which the genetic marker(s) are unknown, making it a clinical diagnosis (for now).
Many patients who fit the phenotypic hEDS clinical picture struggle to find a physician willing to conduct the necessary workup to establish the proper diagnosis.
Not comfortable making such a complex diagnosis? No worries.
You can still help your patient.
By practicing generous listening. Listening to truly comprehend what they are experiencing.
You can validate their symptoms. Let them know that you believe them and you want to help.
You can refer them to the appropriate specialist depending on their symptom profile. Someone you trust and who you would send your mother to (assuming you like your mother).
Over time it gets easier. Once you see hypermobility and connective tissue disorders, you cannot “unsee” them. You begin to realize that they have been there all along. Hiding in plain sight. Crying out into the abyss for help that simply hasn’t been there.
And you start to put the pieces together. You start exploring these conditions more. Reading everything you can get your hands on and attending the best virtual and in-person conferences.
One day you realize you feel comfortable making the diagnosis. You give your patient a gift. An explanation they have been searching for that unifies their seemingly unrelated complaints. They feel heard and understood.
Linda Bluestein is an integrative medicine physician.
Image credit: Shutterstock.com