By Kenneth N. Schikler, MD
Chief, Divisions of Pediatric Rheumatology & Adolescent Medicine
University of Louisville School of Medicine
Kosair Children’s Hospital
In the January 2017 issue of Journal of Pediatrics, Morris et al report on their findings in 1584 Australian youth age 14 years who were part of a longitudinal pregnancy cohort between 1989 and 1991 who were evaluated using the Beighton scoring system and a range of other factors including musculoskeletal pain status in “Hypermobility and Musculoskeletal Pain in Adolescents”.
Their findings might make us reconsider what the appropriate Beighton score might be significant regarding the assignment of Generalized Joint Hypermobility (GJH), and if we might base it on gender and sexual maturity ratings (SMR). The authors also discuss how gender and SMR might alter parts of the scoring system (placing palms to floor).
The findings that provoked my paranoia and reach for my soap box though was the prevalence of GJH they found. When a greater than or equal to “4” score was used, 60.6% of the girls and 36.7% of the boys had GJH. When a score of greater than or equal to “6” was used 26.1% of the girls and 11.5% of the boys qualified as having GJH. This prevalence is not as high as reported in some series, and higher than other reported findings, but clearly finding GJH is not rare.
Now, to my issue; I am troubled by the number of parents and patients I see who either on their own (with the assistance of the internet) or on the basis of a diagnosis given to them by friend, neighbor or physician come in as an Ehlers-Danlos patient, based on their recognized hypermobility. They do, in fact, have GJH, but they have no abnormal skin translucency, extensibility, nor doughiness, “velvetiness”, no abnormal scars, no easy bruisability, no petechial lesions nor history of such, no scleral discoloration or periodontal disease. They have no features other than GJH and usually features of musculoskeletal pain, G-I complaints, lightheadedness or other features that have been lumped into a Hypermobility Syndrome, that doesn’t give the impression of a DISEASE.
If we use only the prevalence numbers in this study , which are lower than the numbers in other studies, and we use the cut off of a Beighton score of 6 do we want to say that a quarter of 14 year old Australian girls and just over a tenth of 14 year old Australian boys have a “disease” diagnosis of Ehlers-Danlos and have these kids and their parents concerned about the potential problems of the forms of the Ehlers-Danlos Syndrome that have potential pathologic outcomes, and contraindications for procedures (e.g. arteriography) and can be genetically confirmed ? When is a relatively common physical finding that can be found as part of a disease a disease? Does every teenage female with acne have a form of polycystic ovary syndrome?
Now for the paranoia, pertinent to those of us in the United States. If our government does away with the ACA and with it the protection on “NO PRE-EXISTING CONDITIONS” is lost, do we as pediatricians want to put diagnoses that are not completely merited on a patient’s medical record that might allow an insurer to deny them insurance or put them in a high risk pool based on the diagnosis. As my paranoia and cynicism expand, as we now have made it clear that “Obesity” in childhood and adolescence is a risk factor for adult disease, will that also be a reason for difficulty in obtaining reasonable health insurance. As we now are being made aware of the confluence of Adverse Childhood Events (ACES) and epigenetic influences on future health outcomes, are we doing out patients any favors by documenting rather than being aware of these factors ?
OK, I have completed my rant and can take a breath and get back to work.