Abstract

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders, currently known to have 14 different subtypes. The prevalence of EDS ranges from one in 5000 to one in 20,000. In classical EDS, a pathogenic variant is found in the COL5A1 or COL5A2 gene, which encodes type V collagen. The most common subtype is hypermobile EDS, accounting for 80-90% of all EDS cases, but it is the only subtype for which a genetic mutation is not yet identified, and diagnosis relies entirely on clinical observation. Early recognition and diagnosis are critical for improving quality of life and ensuring adequate prevention of complications. This article provides an overview of EDS subtypes and symptoms, associated conditions, diagnostics, and treatment, focusing on the three most common subtypes. It also describes a case study of a patient with classical EDS. Thanks to a clinical diagnosis, the patient sought help from an EDS expert centre and received a treatment protocol for pregnancy monitoring. As a result, she gave birth to two healthy children. Later, the EDS diagnosis was further confirmed with a molecular test, where a pathogenic heterozygous frameshift variant was found in the patient’s COL5A1 gene.