Diagnosing Yourself: How Platelets Became the Guide to One Hematologist’s Health Problems
By Mariia Kumskova, M.D. & Rosana Córdova-Serrano, M.D.
When asked to think about the Ehlers-Danlos syndrome (EDS), the first things that come to mind is chronic joint pain, joint dislocations, and stretchy skin. While this is a typical description of how a patient with EDS presents, we should never forget that EDS, a group of 13 different collagen and collagen-related peptides deficient types, has multiple faces and clinical presentations. That’s what makes it very difficult to diagnose and treat before complications develop.
To illustrate this point, we examine the case of a 33-year-old female with an unusual clinical presentation of Ehlers-Danlos syndrome. For this article we will call her Jane, but she wishes to remain anonymous. Jane developed an inguinal hernia when was 1 year old, that was surgically corrected without any complications. Since her childhood, she always felt like she couldn’t be as active as others; she would often get a stomachache and knee pain without cause. When she presented to doctors, the answer to her family was “your kid has growing pain and anxiety.”
When Jane was 15 years old, the clinical picture was enriched with unexplained stretchmarks in the hip and back area. Years went on and in addition to stomachaches, she had tachycardia after lunch and dinner. As she aged, Jane had more intense feelings of fatigue and her symptoms included loss of consciousness and hypertension up to 200/100 mmHg during those episodes. Again, every time she was seen by the doctor, the answer was: “you are too stressed; it’s your anxiety.”
“It was really hard to hear from people that I am all tense, stressed, and crazy, when I was in a lot of pain and couldn’t get answers,” Jane said.
Even when the pain spread to her shoulders and neck area to a pain level where she couldn’t sleep, all Jane heard was, “It’s your anxiety.” But she never stopped looking for answers. At one time, she had a consultation with a neurosurgeon, and she was diagnosed with amyotrophic lateral sclerosis however this diagnosis was not confirmed. So, she was in the same position, symptoms without a diagnosis.
Living with chronic pain isn’t an easy task. Jane started taking sertraline to be able to continue her everyday routine. On the third day of taking the SSRI, she found her legs covered in ecchymosis. Her complete blood count and basic coagulation tests were normal. After stopping the medication, clinical symptoms disappeared and never returned.
Medical school requires character and dedication and as it happens, our patient is a physician. Even better, Jane is a hematologist. During her residency rotation in the coagulation lab, she insisted on checking her own platelet aggregation studies and discovered that her platelet aggregation with ADP was 0%. It was the first little step guiding her to the right diagnosis. The next larger step was getting diagnosed with dysautonomia. After that, the clues started falling in place, she started looking for a specialist who understood connective tissue disorders.
One year ago, at age 32 years, her health troubles were given a name: Ehlers-Danlos syndrome, hypermobile type. She met the required criteria:
- Criterion one: Beighton score with nine of nine points
- Criterion two feature A: soft skin, skin hyperextensibility, unexplained stria, piezogenic papules of the heel, atrophic scaring, dental crowing, and arachnodactyly (meets more than 5 features)
- Criterion two feature B: Her mother has all of the following symptoms as our patient but was never diagnosed and learned how to live with them with lower quality of life. However, due to the absence of an official diagnosis in her mother, this criterion cannot be counted as positive.
- Criterion three: All exclusion criteria are negative.
She can now go to the doctor and instead of hearing that her symptoms are from anxiety, she can finally be diagnosed. With a correct diagnosis, her pain is not dismissed as stress-related problem. We rarely expect that platelet aggregation assay to lead to a connective tissue disease. However, when analyzing platelet function, we should always keep an open mind that platelet disorders have a much broader reach than expected.
“After I have been diagnosed with Ehlers-Danlos, I finally been sent to physiotherapy,” Jane said. “My pain got a lot better, and I have stopped crying every day. My family and I were relieved that I could start living without the intensity of everyday pain.”
More than 50% of EDS types feature easy bruising as a symptom, but there are multiple theories regarding the cause. This clinical case is a good example that EDS is still a scientific mystery in so many ways. Hypermobile type is one EDS type that does not include easy bruising as a clinical criterion in 2017 International EDS classification, but it can also be associated with platelet dysfunction. Additionally, hypermobile type is the only EDS type that has no known mutation(s). Currently, multiple teams are working on unraveling this mystery, hoping it will guide us to more answers. We are all looking forward to the day that we have a better, broader understanding of EDS and its relationship to the coagulation system.