Vascular Ehlers-Danlos syndrome

What it is

From: Orphanet

A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Arteriovenous fistula · Frequent (79-30%)

An abnormal connection between an artery and vein.

Bruising susceptibility · Frequent (79-30%)

An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Colon perforation · Frequent (79-30%)

A hole (perforation) in the wall of the colon.

Dermal translucency · Frequent (79-30%)

An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.

Internal hemorrhage · Frequent (79-30%)

The presence of hemorrhage within the body.

Joint hypermobility · Frequent (79-30%)

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.

Mitral valve prolapse · Frequent (79-30%)

One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.

Premature birth · Frequent (79-30%)

The birth of a baby of less than 37 weeks of gestational age.

Proptosis · Frequent (79-30%)

An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

Talipes equinovarus · Frequent (79-30%)

Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.

Thin skin · Frequent (79-30%)

Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.

Thin vermilion border · Frequent (79-30%)

Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).

Varicose veins · Frequent (79-30%)

Enlarged and tortuous veins.

Prematurely aged appearance · Frequent (79-30%)

Other findings in the same source

From: Orphanet

Additional reported features include Alopecia (Occasional (29-5%)); Aortic aneurysm (Occasional (29-5%)); Aortic dissection (Occasional (29-5%)); Arterial dissection (Occasional (29-5%)); Ascending tubular aorta aneurysm (Occasional (29-5%)); Carotid cavernous fistula (Occasional (29-5%)); Cigarette-paper scars (Occasional (29-5%)); Gingival fragility (Occasional (29-5%)); Gingival recession (Occasional (29-5%)); Gingivitis (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal dominant; Autosomal recessive

Frequency and the population described

From: Orphanet

Point prevalence: 1-9 / 100 000; Worldwide; Value and class.

Which doctor should you see?

The suggested department for discussing Vascular Ehlers-Danlos syndrome is Rheumatology, with a rheumatologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Are the findings inflammatory, structural or due to another mechanism?
• Is there evidence that other organs need assessment?
• How will function and any treatment-related risks be monitored?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Vascular Ehlers-Danlos syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.