Ehlers-Danlos Syndrome (EDS)

Overview

• Ehlers-Danlos Syndromes (EDS) are a group of 13 genetic connective tissue disorders.
• Common symptoms: loose joints, joint pain, stretchy skin, abnormal scar formation.
• Onset: Noticed at birth or early childhood, lifelong condition.
• Complications: aortic dissection, joint dislocations, scoliosis, chronic pain, osteoarthritis.

Types of EDS

• Hypermobile EDS (hEDS): Most common, characterized by joint hypermobility.
• Classical EDS: Skin hyperelasticity, fragile skin, joint hypermobility.
• Vascular EDS: Fragile blood vessels and organs, distinctive facial features.
• Other types: Kyphoscoliosis, Arthrochalasia, Dermatosparaxis, Brittle Cornea Syndrome, etc.

Genetics and Causes

• Caused by mutations in one or more of 19 genes.
• Inheritance patterns: autosomal dominant or recessive.
• Defects in collagen or tenascin structure/processing are common.

Diagnosis

• Based on symptoms, genetic testing, physical examination.
• hEDS lacks a definitive genetic marker.
• Misdiagnosis with hypochondriasis, depression is common.

Treatment

• No cure, supportive treatment only.
• Physical therapy, bracing for muscle strengthening and joint support.
• Medications for pain and blood pressure management.

Prognosis

• Depends on specific type of EDS.
• Normal life expectancy in some forms, reduced in vascular forms.
• Frequency: hEDS affects at least 1 in 5,000 people globally.

Research and Developments

• Ongoing studies to find genetic markers for hEDS.
• The HEDGE study aims to identify common mutations in hEDS.
• CRISPR genome editing shows potential in identifying candidate genes.

Differential Diagnosis

• Conditions similar to EDS: Marfan syndrome, Cutis Laxa, Loeys-Dietz syndrome.

Management

• Joint stabilization, pain management, vitamin C for wound healing.
• Emergency care for vascular EDS due to risk of arterial rupture.

Notable Individuals

• Several public figures and performers have EDS, highlighting its presence in various communities.