Ehlers-Danlos syndromes (EDS) are a group of inherited disorders that primarily affect the connective tissues in the body. These tissues provide structure and support to skin, joints, blood vessels, and organs. Named after Dr. Edvard Lauritz Ehlers and Dr. Henri-Alexandre Danlos, who first described the condition in the early 20th century, EDS encompasses a spectrum of conditions that have been reclassified and refined as medical understanding has grown.
The classification of Ehlers-Danlos syndrome has undergone significant changes over the years, reflecting advancements in genetic and clinical knowledge. Initially, the Berlin classification in 1986 categorized EDS into 11 types, identified by Roman numerals. However, as understanding of the genetic underpinnings and clinical presentations of EDS evolved, the Villefranche classification emerged in 1998. This revised system, based on updated insights, reduced the types to 6 and replaced Roman numerals with descriptive names for each type. The Villefranche classification also introduced major and minor diagnostic criteria to aid in identifying specific EDS types.
A further significant update came in 2017 with the publication of the “2017 international classification of the Ehlers-Danlos syndromes” by The International Consortium on EDS and HSD. This current classification expands the recognized types of EDS to 13. Crucially, it moved away from numerical or Roman numeral designations, instead adopting descriptive names for each type, abbreviated with a lowercase letter for clarity. For example, hypermobile Ehlers-Danlos syndrome is now abbreviated as hEDS. Terms like EDS type 3 or EDS type III are no longer considered current or accurate.
The 2017 classification also formally introduced hypermobility spectrum disorders (HSD), recognizing a range of conditions related to joint hypermobility that do not meet the criteria for hEDS or other types of EDS. Consequently, terms such as joint hypermobility syndrome (JHS) and benign joint hypermobility syndrome (BJHS) are now outdated and should not be used for diagnosis. Many individuals previously diagnosed with JHS or similar conditions would now be classified as having either hEDS or an HSD. It’s important to note that individuals diagnosed with hEDS prior to the 2017 criteria generally do not require re-diagnosis unless they are participating in research or require reassessment for specific reasons.
Since the 2017 classification, ongoing research continues to uncover new genetic variations that present with symptoms similar to EDS. These discoveries may lead to the identification of new EDS subtypes or further refine our understanding of the existing classifications. The links provided offer more in-depth information regarding AEBP1 and COL1A1/COL1A2 variants and their connection to EDS-like symptoms.
Learn more about the AEBP1 variants here.
Learn more about the COL1A1/COL1A2 variants here.
The classification of EDS and HSD is a dynamic field that will continue to evolve as researchers deepen their understanding of these complex conditions. This ongoing evolution underscores the importance of staying informed about the latest classifications and diagnostic criteria in the field of Ehlers-Danlos syndromes.
