Ehlers-Danlos Syndrome

Understanding the condition

From: MedlinePlus, National Library of Medicine

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs.

EDS usually affects your skin, joints and blood vessel walls. Symptoms include:

• Loose joints
• Fragile, small blood vessels
• Abnormal scar formation and wound healing
• Soft, velvety, stretchy skin that bruises easily

There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.

Genetic causes described in the linked summary

From: MedlinePlus Genetics

Variants (also known as mutations) in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. Variants in the COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type. Variants in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type (although in most people with this type, the cause is unknown). The cardiac-valvular type and some cases of the arthrochalasia type are caused by COL1A2 gene variants; variants in the COL1A1 gene have also been found in people with the arthrochalasia type. Most cases of the vascular type result from variants in the COL3A1 gene, although rarely this type is caused by certain COL1A1 gene variants. The dermatosparaxis type is caused by variants in the ADAMTS2 gene. PLOD1 or FKBP14 gene variants result in the kyphoscoliotic type. Other rare forms of Ehlers-Danlos syndrome result from variants in other genes.

Some of the genes associated with the Ehlers-Danlos syndromes, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several different types of collagen. These pieces assemble to form mature collagen molecules that give structure and strength to connective tissues throughout the body. Other genes, including ADAMTS2, FKBP14, PLOD1, and TNXB, provide instructions for making proteins that process, fold, or interact with collagen. Variants in any of these genes disrupt the production or processing of collagen, preventing these molecules from being assembled properly. These changes weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of the Ehlers-Danlos syndromes.

Some genes associated with recently described types of Ehlers-Danlos syndrome have functions that appear to be unrelated to collagen. For many of these genes, it is not clear how variants lead to hypermobility, elastic skin, and other features of these conditions.

Inheritance described in the linked summary

From: MedlinePlus Genetics

The inheritance pattern of the Ehlers-Danlos syndromes varies by type. The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the variant from one affected parent. Other cases result from new (de novo) gene variants and occur in people with no history of the disorder in their family.

The classical-like, cardiac-valvular, dermatosparaxis, kyphoscoliotic, spondylodysplastic, and musculocontractural types of Ehlers-Danlos syndrome, as well as brittle cornea syndrome, are inherited in an autosomal recessive pattern. In autosomal recessive inheritance, two copies of a gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

The myopathic type of Ehlers-Danlos syndrome can have either an autosomal dominant or autosomal recessive pattern of inheritance.

Which doctor should you see?

The suggested department for discussing Ehlers-Danlos Syndrome is Orthopaedics, with a orthopaedic specialist 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.

• What explains the change in pain, movement or function?
• Which activities need adjustment while the diagnosis is being clarified?
• What are the roles of rehabilitation, observation and surgery in this situation?

Treatment discussions and follow-up

Where the source describes treatments, these are an overview of possible care, not a prescription for an individual. Ask which option applies to the confirmed diagnosis, what benefit is expected, what adverse effects to watch for and how progress will be assessed. Availability, approvals and local practice can differ from the country described in the source.

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.

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.