Approach

The diagnosis is initially made on clinical grounds. EDS is present from birth and is often diagnosed in childhood, but in some cases may be detected only in adulthood. Musculoskeletal and skin manifestations are the primary features; cardiovascular and gastrointestinal (GI) autonomic dysfunctions, as well as other manifestations, are considered supportive findings. Apart from joint hypermobility, no feature is universally present in any form of EDS. Due to the involvement of various organ systems, patients may initially present to a variety of different medical specialties.[14]

Many affected people do not develop symptoms at all, or they develop only minor symptoms during their lifetime. The history should also include the nature and effectiveness of pain relief, interventions to date, and any past experiences with local anaesthetic use, as apparent resistance to the effects of local anaesthetics is seen in about two-thirds of patients.[15]

Major and minor diagnostic criteria have been established to make a clinical diagnosis of the EDS subtype. Molecular testing should be undertaken to confirm the diagnosis using panel-based tests or whole exome/genome sequencing. If sequencing tests are negative, copy number variant analysis should be pursued using multiplex ligation-dependent probe amplification (MLPA), quantitative polymerase chain reaction (qPCR), or targeted array analysis. Molecular testing helps confirmation of diagnosis, particularly given the heterogeneity of the different EDS subtypes and provides information on inheritance patterns, recurrence risk, and prognosis, which will help guide management for the patient. Hypermobile EDS (hEDS) continues to remain a clinical diagnosis as the genetic aetiology has not been identified.

Family history of joint hypermobility is highly suggestive; the pattern of inheritance for the common subtypes is usually autosomal dominant, so that 50% of offspring of an affected person would be expected to inherit the gene and develop the phenotype.[12] However, the rare subtypes of EDS are autosomal recessive.

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