The Right Question Solves the Mystery
Remember the show, “Mystery Diagnosis”? My wife and I would watch it together and l loved the challenge of figuring out the diagnosis before the reveal. Invariably the patient’s symptoms were “squishy” - vague, transitory, nebulous, psychosomatic, easily dismissed. And yet the patient knew something was off. For some it was years of being written off as a hypochondriac or a nutcase as their body fired off warning shots of a condition that was slowly destroying them.
I had one such patient. Her list of amorphous, “squishy” symptoms included fatigue, headache, terrible period pain, and depression. She just wanted to stay at home. She was tired and her whole body hurt. I ordered lab after lab and nothing showed up as out of place. Frustrated, I was feeling compelled to agree with her other doctors that she was either depressed or a hypochondriac. A loss, I consulted a professional colleague I hold in the high esteem: recently recognized by Meta Analytics Scholar GPS among 30 million detailed scholar profiles and based on over 200 million scholarly publications of record, he is ranked #1 in the world for vitamin D and endocrinology and #2 for bone, Professor Michael Holick. He heard the case I presented and, like that doc on the “Mystery Diagnosis” who finally puts the puzzle pieces together, he suggested I look up Ehlers-Danlos Syndrome. I did.
Here are some of the signs of Ehlers Danlos:
• Joint flexibility
• Able to pull your thumb almost to your wrist
• Very stretchy skin
• Able to touch your palms to the floor with your legs straight
• Walking on your toes as a child
• Being noted as clumsy
• Headaches
• Easy bruising
• Digestive problems
• Fatigue
• Dizzy with exercise
• Family history of family with aneurysms
• Chronic chest pain
The patient and the family came in to see me. I was thrilled to share that I had a possible diagnosis. Before I could share the good news, they told me more about the drama surrounding their daughter’s condition. They had been to the ER the night before. Their daughter had terrible stomach cramps and she was weak. All scans and bloodwork came back “normal “. Doctors noted bruising and signs of possible self harm. Coupled with her numerous ER visits and her depression, the ER docs recommended psychiatric treatment. But the family wanted something done for their daughter’s immediate pain. They were adamant their daughter was not depressed and they threatened to leave against medical advice. Things got heated. The hospital was not happy and the family was upset. The hospital wanted to bring in family protective services but fortunately calm heads prevailed and they left the ER without further incident, on the condition they saw her doctor the next day. So here we were. Armed with Dr. Holick’s new information, I asked her one question: can you touch your palms to the floor now or anytime in your past.? She could. Shortly thereafter the family was making their way up to see professor Michael Holick at Boston University who is probably the world’s foremost authority on EDS. After further testing, it was confirmed that the patient had Ehlers Danlos Syndrome.
Ehlers Danlos Syndrome affects the vascular structures i.e. the blood vessels, lymph channels, connective tissue in the body, and has to do with the formation of collagen. Untreated, the condition worsens and can, over time, become life threatening.
Ehlers Danlos can be confused with Postural Orthostatic Tachycardia Syndrome (POTS) which is a blood pressure problem i.e. getting dizzy going from lying to standing or after exercise having your blood pressure drop. EDS can often mimic POTS.
Ehlers Danlos is very hard to diagnose because there are no lab markers that you can draw. Everything looks normal. It is diagnosed via family history and history from the patient. Many of my patients have been labeled with chronic fatigue and depression and they go about life with those labels attached to their health.
Part of the problem is that in modern medicine’s conveyor belt of assessment and diagnosis, doctors don’t have enough time in the 4-6 minutes of a consultation to get the kind of history and physical that can identify an EDS patient. As a result, the EDS patients with their “squishy”symptoms, fall through the cracks. They are often misdiagnosed and mislabeled and go around for years with a disease that does have a good treatment.
The good news is, once diagnosed, EDS can be treated and managed. If you would like to contact Professor Holick at Boston University, he is available for phone consultations. His email is mfholick@bu.edu.
