Conditions · Metabolism (biochemistry)
Ehlers–Danlos syndrome !
A group of inherited collagen disorders with overly flexible joints, stretchy fragile skin and, in the vascular form, arteries that rupture.
Updated 2026-11-01
Structures involved
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In biochemistry
In histology
- Connective tissue proper: cells and fibres
- Extracellular matrix: collagen types, elastin, ground substance
Why it happens
What it is
A set of 13 inherited connective-tissue disorders (2017 classification) caused by faults in the synthesis, processing or structure of collagen and related proteins.
Who gets it
Together they affect at least 1 in 5,000 people worldwide; the hypermobile and classical types are the commonest. No Colombia-specific data were found.
Causes
- Classical: COL5A1 or COL5A2 (type V collagen), autosomal dominant
- Vascular: COL3A1 (type III collagen), autosomal dominant
- Kyphoscoliotic: PLOD1 (lysyl hydroxylase), autosomal recessive
- Dermatosparaxis: ADAMTS2 (procollagen N-proteinase); arthrochalasia: COL1A1/COL1A2 (loss of the N-propeptide cleavage site)
- Hypermobile: the most frequent; no gene known yet
Risk factors
- Family history
- In the vascular type, pregnancy and invasive procedures raise the risk of rupture
Pathophysiology
Defective or scarce collagen does not form strong fibrils. In the classical type, type V collagen sets the diameter of type I fibrils; without it fibrils are irregular, and skin stretches and heals poorly. In the vascular type, type III collagen, abundant in arteries, bowel and uterus, is scarce or abnormal (dominant-negative effect), and those walls rupture. In the kyphoscoliotic type there is no hydroxylysine for cross-links; in dermatosparaxis and arthrochalasia the N-propeptide is not removed and fibrils assemble badly.
Classification
- Hypermobile: joint hypermobility, chronic pain, dislocations; skin mildly affected
- Classical: hyperextensible skin, wide atrophic scars, hypermobility
- Vascular: thin translucent skin, easy bruising, arterial, bowel or uterine rupture
- Other rare types: kyphoscoliotic, arthrochalasia, dermatosparaxis, cardiac-valvular and others
Symptoms and signs
- Joint hypermobility with dislocation or subluxation of shoulder, patella and fingers
- Soft, hyperextensible, fragile skin; wounds that split easily
- Wide, thin (“cigarette-paper”) scars
- Bruising from minimal trauma
- Chronic musculoskeletal pain and fatigue
Diagnosis
- Clinical
- Beighton score for hypermobility, examination of skin and scars, family history and the 2017 criteria for each type.
- Tests
- Genetic testing (COL5A1, COL5A2, COL3A1, PLOD1, ADAMTS2 and others); the hypermobile type is diagnosed clinically.
- Imaging
- Echocardiography for the aortic root and valves; CT or MR angiography of vessels in the vascular type; joint ultrasound when injured.
Treatment
- Rehabilitation
- Strengthening and proprioception physiotherapy to stabilise joints
- Lifestyle
- Avoid contact sports and extreme joint loading; protect the skin from knocks
- Conservative
- Careful wound closure with tension-free sutures and later removal of stitches
- Follow-up
- Regular vascular follow-up in the vascular type and pregnancy care in specialised centres
- Medical
- Blood pressure control and chronic pain management; celiprolol has been studied in the vascular type
Complications
- Recurrent dislocations and early osteoarthritis
- Arterial rupture, aneurysm and dissection
- Bowel perforation
- Uterine rupture in pregnancy
- Chronic pain
Prognosis
Most types have a normal life expectancy; in the vascular type it is shortened by arterial and bowel rupture.
Prevention
- Genetic counselling
- Alert other clinicians to the diagnosis before invasive procedures in the vascular type
Test yourself
Think of the answer, then tap the question to see it.
Which gene is altered in vascular Ehlers–Danlos syndrome, and why are arteries and bowel affected?
COL3A1: type III collagen is abundant in the walls of arteries, bowel and uterus, which become fragile and rupture.
Which collagen fails in classical Ehlers–Danlos syndrome?
Type V collagen (COL5A1 or COL5A2), which sets the diameter of type I collagen fibrils.
Which enzyme is missing in kyphoscoliotic Ehlers–Danlos syndrome?
Lysyl hydroxylase (PLOD1): without hydroxylysine collagen cannot form its cross-links properly.
Which clinical tool measures joint hypermobility?
The Beighton score, which adds up 9 manoeuvres of fingers, elbows, knees and trunk.
Related conditions
Educational information, not medical advice. For any symptom, see a health professional.
Sources: Ehlers-Danlos syndrome: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026); Ehlers-Danlos syndrome: MedlinePlus Medical Encyclopedia (MedlinePlus, US National Library of Medicine, 2026); COL3A1 gene: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026); COL5A1 gene: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026); PLOD1 gene: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026).
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