Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome refers to a group of multisystemic disorders of connective tissue with variable clinical manifestations that include (but are not limited to) joint hypermobility, dermal fragility, internal organ and blood vessel ruptures.
The 1997 Villefranche classification of Ehlers-Danlos syndrome, based on specific diagnostic criteria such as inheritance pattern and molecular defects, is widely regarded as the most reliable measure of identification.
The six major subtypes that are recognised in the classification are – classic, hypermobility (EDS-HT), vascular, kyphoscoliotic, arthrochalasis and dermatosparaxis.
Among these, EDS-HT is the most commonly observed variant of Ehlers-Danlos syndrome which can lead to severe and debilitating complications such as frequent dislocations, subluxations and chronic articular pain; this can place limitations on mobility and greatly affect an individual’s quality of life.
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EDS-HT is considered similar to the joint hypermobility syndrome which is characterised by passive dorsiflexion of each fifth finger greater than 90 degrees, passive apposition of each thumb to the flexor surface of the forearm, hyperextension of each elbow greater than 10 degrees, hyperextension of each knee greater than 10 degrees, and an ability to place the palms flat on the floor with the knees fully extended.
According to Gazit et al. in their study on the hypermobility type of Ehlers-Danlos syndrome, “the predominant presenting complaint is pain which is often widespread and longstanding, with patients reporting pain ranging from 15 days to 45 years”.
The authors recommend treatment which is multidisciplinary in nature involving frequent consultations with a cardiologist, orthopaedic surgeon, gastroenterologist, oral and maxillofacial surgeon, ophthalmologist, urologist etc. depending on the clinical manifestation.
Fransiska Malfait and Anne De Paepe, from the Centre for Medical Genetics at Ghent University, suggest a series of preventative guidelines which could be applicable to all forms of Ehlers-Danlos syndrome including cardiovascular work-up, physiotherapy, pain management and psychological follow-up.
The prevalence of pain and muscle weakness in the lower extremity makes the inclusion of highly customised foot orthotics such as MASS4D® advisable as a pain management device in treatment programmes for EDS-HT to promote joint stabilisation and to reduce any stress to painful lower limbs.
This would improve mobility in the individual while eliminating any compensatory movements of the lower limbs and enhancing postural alignment for healthy functioning of the feet and the overall musculoskeletal system.
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References:
- Gazit, Y., Jacob, G., Grahame, R. (2016) Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder. Rambam Maimonides Medical Journal: October 2016, Vol. 7, No. 4, e0034. doi:10.5041/RMMJ.10261
- Malfait, F., Paepe, A. D. (2014) The Ehlers-Danlos Syndrome. Advances in Experimental Medicine and Biology: January 2014, Vol. 802, pp. 129-143. DOI: 10.1007/978-94-007-7893-1_9
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