Makindo Medical Notes

Related Subjects: |Autosomal Dominant |Autosomal Recessive |X Linked Recessive

Ehlers-Danlos syndromes (EDS) are a group of inherited disorders that primarily affect the connective tissues—collagen and other proteins—that support the skin, bones, blood vessels, and many other organs and tissues. EDS is characterized by a variety of symptoms depending on the specific type, but common features include joint hypermobility, skin hyperextensibility, and tissue fragility.

About

• A collection of different diseases EDSI, EDSII to EDSX
• Collagen defect seen in 1 in 5000 births
• Autosomal dominant and some are recessive

Aetiology

• Many different forms that alter the synthesis of collagen
• Enzyme deficiencies and faults in post-translational modifications
• Study Collagen

Types of Ehlers-Danlos Syndromes: 13 recognized subtypes of EDS most common being:

• Hypermobile EDS (hEDS): Characterized by generalized joint hypermobility, chronic pain, and skin that may be soft or slightly elastic.
• Classical EDS (cEDS): Features include highly elastic, velvety skin that is fragile and prone to bruising, and generalized joint hypermobility.
• Vascular EDS (vEDS): The most severe type, affecting blood vessel walls and internal organs, which can lead to life-threatening complications such as arterial rupture.
• Kyphoscoliotic EDS (kEDS): Involves severe curvature of the spine (kyphoscoliosis), muscle weakness, and fragile eyes that are prone to rupture.
• Arthrochalasia EDS (aEDS): Characterized by congenital hip dislocation, severe joint hypermobility, and skin that is thin and fragile.
• Dermatosparaxis EDS (dEDS): Notable for extremely fragile skin that is prone to sagging and easy bruising, as well as hernias.

Clinical

• Joint hypermobility: Joints that extend beyond the normal range of motion.
• Skin hyperextensibility: Skin that can be stretched beyond the usual limits.
• Tissue fragility: Skin that bruises easily, wounds that heal slowly, and scar tissue that may be thin or stretched.
• Chronic pain: Often associated with joint hypermobility and frequent joint dislocations.
• Fatigue: Common due to chronic pain and joint instability.
• Easy Bruising, atrophic scars, weakened sclera
• Aortic dilatation, Mitral valve prolapse, Bowel rupture

Differential

• Familial Joint Hypermobility
• Marfan's syndrome
• Larsen's syndrome

Investigations

• Clinical Evaluation: joint hypermobility, skin elasticity, and other connective tissue symptoms.
• Family History: patterns of inheritance or similar symptoms in relatives.
• Genetic Testing: specific genetic mutations, especially in subtypes like vascular EDS.
• Imaging Studies: Can assess joint stability, spinal curvature, and organ integrity.

Management

• Physical Therapy: To strengthen muscles around joints and improve stability.
• Medication: Analgesia. Medications to manage cardiovascular issues in certain subtypes.
• Protective Measures: Bracing, taping, or using assistive devices to prevent joint dislocations and minimize injury.
• Regular Monitoring: Particularly for vascular EDS, where regular cardiovascular check-ups are crucial.
• Surgical Intervention: In some cases, surgery may be required to repair severe joint dislocations or manage complications, though care must be taken due to fragile tissues.