Ehlers-Danlos syndromes

As a close relative of someone who has E.D. Hypermobility syndrome I can say that your article on the 28th September is timely. It has taken 7 years for my relative to have the full extent of the clinical condition evaluated. The article lacks reference to several important aspects.

The Chiari brain stem descent that typically occurs in the hypermobile group may be associated with hypermobility of the cervical vertebrae with excessive shift of the bodies and facet joint inflammation giving rise to unusual patterns of neuromuscular anomalies--easily mistaken as psychogenic in origin. Microfractures occur in vertebrae that can be focuses of infection or associated with discitis.

The article suggests that a patient should have regular follow up in a multi disciplinary clinic. I suspect not many exist. Provision should be made for setting up one of these in every region. More importantly still, clinical pathways should be established so that non specialist clinicians, when encountering the condition, can refer them to such groups once they are established. In the mean time many Ehlers Danlos patients have to attend a variety of specialist clinics without the benefit of a co-ordinating overview to link them all together--E.G. sufferers may have to attend cardiac, gastro-intestinal, neurological, urological, orthopaedic, autonomic, immunology, infectious diseases clinics over a prolonged period and have themselves to ensure communication between them. I write from experience, even as a surgeon with experience knowing how to access medical services.

This is a useful and timely paper. Timely because like many other clinicians, my caseload of EDS patients seems to have increased from a couple a year fifteen years ago to a couple a month now. Almost all are hypermobile EDS. I note that the intention of the 2017 classification was to tighten the former Type III classification into the new label hEDS (Malfait et al., 2017). This 'tightening' seems to have had the opposite effect, substantially increasing the number of patients. The reason is that the new diagnostic approach is the 'pick n mix' variety seen in other conditions such as CFS and fibromyalgia, and careful selection will show that all that is required is to have a history of scoring relatively highly on the Beighton scale, a history of chronic widespread pain, and a family history of hEDS. This is remarkably subjective for a classification with otherwise high objectivity in diagnosis.

The paper notes that 10-30% of the general population have the hypermobility score required, and other sources suggest up to 40% of women will meet these criteria (Hakim and Grahame, 2003). Chronic widespread pain is totally subjective, and a family history of the same presentation is very likely if hypermobility is the main objective criterion. Overall, therefore, it is entirely possible for 40% of women to present with hEDS if they chose to do so. This does not make it a useful diagnosis. Why has hEDS been retained in the EDS stable? Surely, with the latest genetic and biochemical diagnostic criteria for all the others, hEDS stands alone and should stand alone. Would it not be better to detach it and consider it to be simply Hypermobility Spectrum Disorder?

My concern is that hEDS appears, often self-diagnosed, alongside CFS, Fibromyalgia, and POTS, as a collection of labels sought by patients with central hypersensitivity. These patients are sorely in need of objective assessment and objective management, otherwise uncertainty may lead to inappropriate beliefs and maladaptive behaviours, and the risk they will resort to expensive treatments with no evidence base that could well be harmful. I have been reassured by the 75% drop in incidence of CFS over the past 25 years suggesting that GPs now understand the presentation well and give good advice that leads to early recovery without the need to medicalise and make a formal diagnosis (Collin et al., 2017). Adding new labels is likely to make it harder for generalists to know what is going on, and will contribute to the patient's worry and confusion.

COLLIN, S. M., BAKKEN, I. J., NAZARETH, I., CRAWLEY, E. & WHITE, P. D. 2017. Trends in the incidence of chronic fatigue syndrome and fibromyalgia in the UK, 2001-2013: a Clinical Practice Research Datalink study. J R Soc Med, 110, 231-244.

HAKIM, A. & GRAHAME, R. 2003. Joint hypermobility. Best Pract Res Clin Rheumatol, 17, 989-1004.

MALFAIT, F., FRANCOMANO, C., BYERS, P., BELMONT, J., BERGLUND, B., BLACK, J., BLOOM, L., BOWEN, J. M., BRADY, A. F., BURROWS, N. P., CASTORI, M., COHEN, H., COLOMBI, M., DEMIRDAS, S., DE BACKER, J., DE PAEPE, A., FOURNEL-GIGLEUX, S., FRANK, M., GHALI, N., GIUNTA, C., GRAHAME, R., HAKIM, A., JEUNEMAITRE, X., JOHNSON, D., JUUL-KRISTENSEN, B., KAPFERER-SEEBACHER, I., KAZKAZ, H., KOSHO, T., LAVALLEE, M. E., LEVY, H., MENDOZA-LONDONO, R., PEPIN, M., POPE, F. M., REINSTEIN, E., ROBERT, L., ROHRBACH, M., SANDERS, L., SOBEY, G. J., VAN DAMME, T., VANDERSTEEN, A., VAN MOURIK, C., VOERMANS, N., WHEELDON, N., ZSCHOCKE, J. & TINKLE, B. 2017. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet, 175, 8-26.