HHE Rheumatology and musculoskeletal supplement 2018 | Page 11

rheumatology and
musculoskeletal
International updates and 2017
criteria of the Ehlers-Danlos syndromes
In March 2017, the landscape changed significantly for the Ehlers-Danlos
syndromes and the newly described hypermobility spectrum disorders
Lara Bloom
International Executive
Director,
The Ehlers-Danlos Society
In the last decade, growing attention has been
placed on joint hypermobility and related
disorders, but the Ehlers-Danlos syndromes (EDS)
have fascinated people throughout the ages. The
first report of this disorder dates back to
Hippocrates (fourth century BC). For many
centuries, affected individuals earned their livings
as The Elastic Skin Man, The India Rubber Man
and The Human Pretzel, amazing their audiences
in fairgrounds and circus side shows by exhibiting
contortionist tricks and a remarkable ability to
stretch their skin. 1
An international effort
An international effort was initiated to try and
address the issues surrounding these disorders.
Updated diagnostic criteria were a long time
coming, and the issues manifesting as
a consequence of this gap in research and
progression were becoming apparent. One
clinician, who has worked with people with
Ehlers-Danlos syndromes since 1965, has referred
to Ehlers-Danlos as, ‘the most neglected disorder
in modern medicine’. That call resonated with
patients who, with their doctors, struggled to find
guidelines for diagnosis and care that reflected
the emerging manifestations that might have
previously seemed unrelated. 2
Since 1998, two developments led to concerns
that the EDS nosology needed to be substantially
revised. The first development was the discovery
of several new EDS types, which substantially
broadened the molecular (gene) basis underlying
EDS. The second was the growing concern, in the
absence of genetic diagnosis, that the
hypermobile type of EDS had expanded
characteristics and that the diagnostic criteria
currently in use were inadequate. Furthermore,
there was a dire need for the development of
guidelines for management for each type of
EDS to allow medical professionals to care for
affected individuals and their families.
The First International Meeting on EDS
was held in Ghent, Belgium, in September
2012, and an International Consortium on EDS
was formed with the objective to convene
a group of clinicians, scientists and lay members
of the EDS Community to come to grips with the
increasingly difficult aspects of definition and
management of EDS types, to define research
agendas, and to continue EDS meetings. When it
became apparent how huge the management and
coordination of this global collaboration would
be, an intentional charity called The Ehlers-
Danlos Society was created to ensure this work
would continue, and the consortium grew to over
90 members.
What are the EDS?
The EDS were classically defined as a
heterogeneous (varying) group of heritable
(genetic) disorders of connective tissue,
characterised by joint hypermobility (joints
that can move more than usual), skin
hyperextensibility (skin that can be stretched
further than normal) and tissue fragility affecting
skin, ligaments, joints, blood vessels and internal
organs 3 (Table 1). 3
Classification of Ehlers-Danlos syndromes
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