Ehlers-Danlos

Introduction

Ehlers-Danlos syndromes (EDS) are rare genetic conditions that weaken the body's connective tissue, leading to symptoms like stretchy skin, flexible joints, and fragile blood vessels. While there is no cure, proper care and management can help people with EDS live better lives. 

Subtypes

The Ehlers-Danlos syndromes (EDS) are a rare group of heritable connective tissue disorders (1, 2). The 2017 international classification of EDS recognises 13 subtypes, each with its own unique characteristics. While all subtypes, except for hypermobile EDS, have an identified genetic cause, hypermobile EDS is considered ‘probably’ the most common type (2, 3). The Ehlers-Danlos syndromes arise from a specific mutation in genes (which is different for each subtype) that affect the structure of connective tissue, resulting in weaker and less supportive connective tissue in individuals with EDS. Connective tissue provides support to the body and ensures that all cells of the skin, joints, muscles, and organs are held together (4). As a result, individuals with EDS experience multiple symptoms and complications due to fragility of their connective tissue. 

Symptoms

EDS shows a wide range of symptoms which may vary, depending on the subtype (4). Collagen abnormalities are present from birth, however, symptoms will often appear later in life. Among the most common initial signs are skin hyperextensibility and hyperflexible joints.

Skin manifestations include:

• Hyperextensible skin with a smooth, velvet-like texture
• Skin fragility, delayed wound healing, and thin atrophic scars
• White, soft skin which shows underlying blood vessels

Muscular and skeletal manifestation include:

• Joint hypermobility
• Recurrent shoulder dislocations 
• Muscle weakness and a tendency to fall
• Recurrent fractures

Dental issues are commonly seen as well in people with EDS. Due to the collagen dysfunction, internal organs are more prone to rupture. Vascular and organ rupture are the most feared complications of EDS. Unfortunately there is no cure for EDS. Therefore, treatment focuses on preventing disease progression and managing complications through a multidisciplinary approach, including a cardiologist and an orthopaedist.

Prognosis

The prognosis for individuals with EDS varies depending on the subtype and whether morbidity or mortality is more important to the individual. Morbidity is strongly influenced by the person's environment and subtype. In general, people with the hypermobile and classic subtypes of EDS do not experience a shortened lifespan and their mortality is not affected by the disease. However, individuals with vascular and kyphoscoliotic subtypes have a poorer prognosis. Those with the vascular subtype typically experience a major vascular event by age 40. Patients with the kyphoscoliotic subtype are at risk for vascular complications and restrictive lung disease, both of which contribute to a shortened life expectancy.

Psychosocial Implications 

EDS carries significant psychosocial implications. Individuals often struggle not only with the physical symptoms and complications of the disease but also with the activity restrictions advised by clinicians to reduce risk.

Research advances

Although there are many challenges associated with Ehlers-Danlos syndromes, advancements in genetic research, early detection, and healthcare are helping those affected lead better lives. With proper management, individuals with EDS can experience normal, fulfilling lives.