Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

The Ehlers Danlos syndromes (EDS) comprise a group of connective tissue disorders characterized by tissue fragility of the skin, ligaments, blood vessels and internal organs. Variable degrees of clinical severity and organ involvement are due to the molecular and biochemical heterogeneity of this group of disorders and have led to classification into well-characterized subtypes that are extending with the discovery of new genes and overlapping syndrome. Types include classical EDS (EDS I/II), hypermobility EDS (EDS III), vascular EDS (EDS IV), kyphoscoliosis EDS (EDS VI), arthrochalasia (EDS VIIA, B) and Dermatospraxis (EDS VIIC). Even to the well trained professional, the diagnosis of EDS remains a challenge due to overlapping symptoms and cases can remain without a well-defined classification. Life altering complications of this group of disorders include vascular and hollow organ rupture and ligamentous laxity leading to chronic dislocation with ensuing pain and long term disability. Patients initially present to the general practitioner who is expected to recognize the symptoms of EDS and to proceed with appropriate referral for definitive diagnosis and management to prevent devastating complications. In this paper, we describe a male with classical EDS complicated by devastating vascular and orthopedic events. 1. Introduction Ehlers-Danlos syndrome (EDS) consists of a heterogeneous group of disorders which are part of a larger group of connective tissue disorders (also including Marfan and Loeys-Dietz syndromes). The Ehlers-Danlos syndromes are characterized by abnormalities of the connective tissue of the skin, ligaments, blood vessels, and internal organs leading to ligamentous laxity and variable skin and tissue fragility. The diverse molecular and biochemical background lead to variable degrees of tissue and organ involvement, accounting for the EDS subgroups and overlapping phenotypes (Table 1). The prevalence of EDS is estimated at 1 in 5000 live births, and some suggest a higher prevalence as physicians’ awareness of the disease improves [1]. Some but not all of the types can be confirmed by genetic testing after clinical criteria are met. However, even to the well-trained professional, many cases remain ambiguous and do not fit in any of the well-described subtypes. Table 1: Overview of Ehlers-Danlos syndromes (adapted from De Paepe and Malfait [ 2].) The different EDS disorders are classified according to the joint and skin involvement. Individuals with classical EDS (EDS I/II) have increased skin extensibility, difficulty with skin