A Call for Awareness

There is a pathological family that falls under the discipline of Rheumatology, known as Heritable Disorders of the Connective Tissues. The individual pathologies vary widely in both severity and symptoms, and include disorders such as Marfan Syndrome (MFS), Ehlers-Danlos Syndrome (EDS), and Osteogenesis Imperfecta (OI). One symptom that each of these disorders present with is joint hypermobility. It is advantageous for rheumatologist, then, to look for joint hypermobility first in all of their patients; if the patient does not display hypermobility then the doctor can safely rule out an entire class of disorders, and if the patient is in fact found to be hypermobile, the doctor will have a very specific idea of what is wrong and the course of treatment needed. The current methods employed to diagnose disorders such as MFS, EDS, and OI are both costly and time consuming – many tests such as blood work, X-rays and MRIs must be repeated to look at tighter and tighter parameters. Since the cause of this family of disorders is genetic, skin biopsies are often needed to make a definitive diagnosis, a process which is costly for both patient and doctor. There is, however, a much more efficient and expedient way to make diagnoses for these disorders; upon determining that a patient is hypermobile, a thorough family and personal health history, which requires no tests and costs no money, can provide enough data to come to a decisive and final diagnosis, without the need of costly tests or wasting any time. The diagnosis of Connective Tissue Disorders today is one of a process of elimination, one that proves costly and grossly inefficient. Ehlers-Danlos Syndrome Type III alone affects 5% of the female population, causing an immense drain on the healthcare and insurance systems as patients are bounced from doctor to doctor and from test to test for months, or in many cases, years. The manpower and money that could be saved by being proactive rather than reactive in the diagnoses of Connective Tissue Disorders is immeasurable.

The strain caused by these disorders is not only felt in the healthcare or insurance communities, but in the workforce and social services as well. Studies show that Connective Tissue Disorders have a significant impact on the quality of life of patients; many are unable to work full-time or consistently, causing many patients who have been unable to receive a diagnosis or reliable treatment plan to rely on the unemployment system and other social services in order to provide for themselves and their families. Once again, the scale of the amount of tax dollars that could be saved by being proactive and spreading awareness about hypermobility in the medical community is impressive. Not only would a focus on diagnosing hypermobility save countless dollars from being spent, but the test for hypermobility itself costs absolutely nothing to perform. The test for hypermobility is known as the Beighton Scale and/or the Brighton Criteria. These tests require the patient to perform a series of movements with various joints to see if/how many of those joints exhibit abnormal or increased mobility. This test takes less than 5 minutes to perform, does no harm to the patient, and costs nothing to perform for the doctor and insurance companies. In 5 minutes more can be determined in the diagnosis and prognosis of a patient than can be learned in months or years given the current stratagem of the medical community. In the same vein, the quicker that a diagnosis can be reached, the shorter the recovery time for the patient, and the faster they can go back to their lives and rejoin the workforce – saving countless dollars in insurance bills, treatments, and unemployment and/or workers compensation payments. Furthermore, as Connective Tissue Disorders are heritable pathologies, so once one member of a family is given a diagnosis, it makes the diagnosis of other family members exponentially easier, ensuring that the healthcare system will not be burdened with subsequent generations of patients, as preventative actions can be taken.

Once again, the medical community has nothing to lose and everything to gain by shifting its focus towards the diagnosis of hypermobility in patients. Rheumatologists are not the only healthcare professionals who could benefit from testing for hypermobility; a vast majority of patients suffering from Connective Tissue Disorders are seen by orthopedists, gynecologists, physical therapists, psychologists, and pain specialists. The burden placed on the healthcare system, then, is as wide reaching as it is heavy. A recent study shows that less than 10% of hypermobile patients are correctly diagnosed by their primary care physicians. Incorporating a discussion of hypermobility into the common curriculum for general practitioners, then, would be hugely beneficial; the testing for hypermobility requires neither any testing equipment nor specialized expertise, therefore, general practitioners could easily screen for the trait, preventing patients from having to seek the care of specialists in the first place.

In conclusion, screenings for hypermobility would be easy and costless to implement, and would be immeasurably beneficial. Such screenings would eliminate wasted time, money, and testing by doctors and hospitals, and relieve strains on insurance companies, as well as unemployment, disability pay, and other social services that demand a high amount of manpower as well as tax dollars. Hypermobility may at first appear as an insignificant phenomenon, and one that is easily overlooked; however, it is just as easy to recognize as it is to ignore, and once spotted, its benefits are as far reaching and immediate as they are drastic.

Chelsea Smith

Hypermobility Hope