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Living with Ehlers-Danlos syndrome, type 4

An inherited connective tissue condition with thin, see-through skin, easy bruising, and fragile arteries and organs.

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Understanding Ehlers-Danlos syndrome, type 4

Vascular Ehlers-Danlos syndrome is an inherited connective tissue condition caused by defects in a protein called collagen, and is generally considered the most severe form of Ehlers-Danlos syndrome.

Common symptoms include thin, translucent skin, easy bruising, a characteristic facial appearance, and fragile arteries, muscles, and internal organs. Signs show up in the newborn and infant years.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Thin, see-through skin
  • Easy bruising
  • Fragile arteries (arterial dissection)
  • Collapsed lung (pneumothorax)
  • Club feet
  • Characteristic facial features

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, genetic specialists and skin, hair, and nail specialists.

  3. Consider genetic testing

    Changes in COL3A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    Ehlers-Danlos Society, The VEDS Movement and Bobby Jones Chiari & Syringomyelia Foundation may keep lists of experts for this condition.

Care & treatment

Care team
autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
Expert care
Expert lists: Ehlers-Danlos Society, The VEDS Movement, Bobby Jones Chiari & Syringomyelia Foundation
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with Ehlers-Danlos Society and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Would genetic testing for the COL3A1 gene help our family?
How should my arteries and organs be monitored?
What precautions should I take with activities and procedures?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Dominant, Autosomal Recessive
GenesCOL3A1

GARD says changes in the COL3A1 gene usually cause this condition, and rarely the COL1A1 gene. It is autosomal dominant, meaning one changed copy of the gene can cause it.

GeneticSkin

Also known as: arterial-ecchymotic eds; eds iv; eds type 4; ehlers danlos syndrome, arterial type; ehlers danlos syndrome, ecchymotic type; ehlers danlos syndrome, sack-barabas type

Patient organizations

Source: NIH GARD · Ehlers-Danlos syndrome, type 4GARD ID 2082 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

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Explore research for Ehlers-Danlos syndrome, type 4

Explore actively recruiting Ehlers-Danlos syndrome, type 4 studies with HealthSpark.

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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