[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › [Conditions](https://durgical.com/en/conditions/) › Ehlers–Danlos syndrome

[Conditions](https://durgical.com/en/conditions/) · [Metabolism (biochemistry)](https://durgical.com/en/conditions/)

# 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

Tap one to see what it is and open it in 3D.

- [Skin](https://durgical.com/en/anatomy/skin/)
- [Shoulder capsule](https://durgical.com/en/anatomy/shoulder-joint-capsule/)
- [Patella](https://durgical.com/en/anatomy/patella/)
- [Joint capsule](https://durgical.com/en/anatomy/articular-capsule-of-knee-joint/)
- [Abdominal aorta](https://durgical.com/en/anatomy/abdominal-aorta/)
- [Sigmoid colon](https://durgical.com/en/anatomy/sigmoid-colon/)

## In biochemistry

- [Collagen synthesis](https://durgical.com/en/biochemistry/topics/collagen-synthesis/)
- [Collagen](https://durgical.com/en/biochemistry/enzymes/collagen/)
- [Fibrillin-1](https://durgical.com/en/biochemistry/enzymes/fibrillin-1/)

## In histology

- [Connective tissue proper: cells and fibres](https://durgical.com/en/histology/connective-tissue-proper-cells-and-fibres/)
- [Extracellular matrix: collagen types, elastin, ground substance](https://durgical.com/en/histology/extracellular-matrix-collagen-types-elastin-ground-substance/)

## Why it happens

- [How a single gene causes disease: enzymes, receptors and structural proteins](https://durgical.com/en/general-pathology/how-a-single-gene-causes-disease-enzymes-receptors-and-structural-proteins/)

## 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](https://durgical.com/en/anatomy/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

## Red flags

- Sudden severe abdominal, [chest](https://durgical.com/en/anatomy/region/chest/) or flank pain (possible arterial or bowel rupture in the vascular type)
- Stroke or sudden headache in a young person with thin skin and bruising
- Pregnancy in a woman with the vascular type (risk of uterine and arterial rupture)

## Diagnosis

**Clinical**
Beighton score for hypermobility, examination of [skin](https://durgical.com/en/anatomy/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.

[Add to my cards (4)](https://durgical.app/estudiar/?add=/en/conditions/ehlers-danlos-syndrome/)

## Related conditions

- [Osteogenesis imperfecta](https://durgical.com/en/conditions/osteogenesis-imperfecta/)
- [Aortic dissection](https://durgical.com/en/conditions/aortic-dissection/)
- [Abdominal aortic aneurysm](https://durgical.com/en/conditions/abdominal-aortic-aneurysm/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Ehlers-Danlos syndrome: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/) (MedlinePlus, US National Library of Medicine, 2026); [Ehlers-Danlos syndrome: MedlinePlus Medical Encyclopedia](https://medlineplus.gov/ency/article/001468.htm) (MedlinePlus, US National Library of Medicine, 2026); [COL3A1 gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/col3a1/) (MedlinePlus, US National Library of Medicine, 2026); [COL5A1 gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/col5a1/) (MedlinePlus, US National Library of Medicine, 2026); [PLOD1 gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/plod1/) (MedlinePlus, US National Library of Medicine, 2026).

[← All conditions](https://durgical.com/en/conditions/)

## **Spotted a mistake?** We are always improving for the community. Tell us what is wrong and our team will review it. Report a mistake

Representative model, for educational purposes only.

---
Source: https://durgical.com/en/conditions/ehlers-danlos-syndrome/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/ehlers-danlos-syndrome/