What Is Ehlers-Danlos Syndrome?
Ehler-Danlos syndrome is a group of rare inherited disorders that affect the body’s connective tissues, especially the skin, joints, and blood vessels.
Connective tissues are made up of proteins and other substances that provide them with elasticity.
In people with Ehler-Danlos syndrome, the strength of collagen is affected.
Though people with Ehler-Danlos syndrome are born with the condition, it may take years before it gets diagnosed.
Types of Ehlers-Danlos Syndrome
There are 13 types of Ehler-Danlos syndromes (EDS), most of which are rare.
Hypermobile EDS (hEDS) is the most common type of Ehler-Danlos syndrome.
Some symptoms of hEDS are:
- Hypermobility of joints
- Unstable joints that tend to dislocate easily
- Clicking and pain in the joints
- Easy skin bruising
- Digestive problems like heartburn
- Dizziness and increased heart rate after standing up
- Urinary incontinence
There are no diagnostic tests for hEDS.
Usually, the diagnosis is based on the individual’s history, symptoms, and physical examination.
Other relatively common types of EDS are classical, vascular, and kyphoscoliotic EDS.
Is Elhers-Danlos Syndrome Genetic?
Ehlers-Danlos syndrome is a genetic condition. Over 20 genes have been found to be associated with EDS.
A few genes that have been associated with Ehler-Danlos syndrome are:
- COL1A1
- COL1A2
- COL3A1
- COL5A2
These genes provide instructions for making different types of collagen.
Changes (variants) in these genes may disrupt the production or processing of collagen, resulting in weak bones, skin, or other parts of the body.
This gives rise to the characteristic features of Ehler-Danlos syndrome.
Each type of EDS is caused by variants in different collagen genes.
- Variants in the COL5A1, COL5A2, and sometimes in the COL1A1 genes cause the classical type EDS
- Variants in the TNXB gene cause the classical EDS and a few cases of hypermobile type
- Variants in the COL1A2 gene cause cardiovascular EDS and some cases of arthrochalasia
23 Signs You Grew Up With Ehlers-Danlos Syndrome
Hypermobile joints, frequent bruising, and painful joints are common symptoms of EDS.
While for some, it may be related to an underlying medical condition, these may be signs of Ehler-Danlos syndrome for a few people.
23 Signs Of Ehler-Danlos Syndrome
- High flexibility of joints
- Clumsiness
- Frequent tripping or falling
- Frequent joint dislocations, especially of the knee or elbow
- Ability to bend fingers or thumb backward
- Increased frequency of fracturing bones
- Hyperextended knees
- Feeling you are double-jointed
- Fear of relaxing your joints for fear of dislocation
- Frequent dizzy or fainting spells
- Fewer wrinkles
- Frequent foot problems, especially pain and discomfort
- Digestive issues like bloating, diarrhea, nausea, acid reflux
- Extreme fatigue
- Holding a pen or pencil differently to avoid pain, discomfort, or dislocation of your finger joint
- Take longer to complete everyday activities
- Increased likelihood of migraine, vision issues, or postural orthostatic tachycardia syndrome (POTS)
- Chronic body pain at a young age
- Running with a different gait than others
- Picky about the clothing you wear to protect your sensitive skin
- Joints make a clicking or popping noise
- Growing pain in the ankles
- Inability to run fast
Expert Opinion: Dr. Grubb On Signs Of Ehlers-Danlos Syndrome
Dr. Grubb, a cardiologist who specializes in autonomic research and disorders, specified some signs of EDS in his speech at the Departments of Medicine and Pediatrics Health Science campus, Ohio.
- Hypermobility – a key sign
- Cognitive impairment
- 78% of those with asymptomatic hypermobility* had abnormal autonomic test results**
- Tend to get sick earlier in life
- Some EDS patients can get extreme scars
- Increased prevalence of conditions like autism spectrum disorder and Asperger’s syndrome
*Asymptomatic hypermobility: A condition where a person’s joints can move more than usual (are extra flexible), but they don’t experience any pain or problems because of it.
**Autonomic test results: The outcomes from medical tests that check how well the body’s automatic systems—like heart rate, blood pressure, and digestion—work.
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Please note: Xcode Life does not test for Ehlers-Danlos Syndrome
Treatment for Ehlers-Danlos Syndromes
There is no cure for Ehler-Danlos syndrome.
Treatment is aimed at managing the symptoms and preventing further complications.
A few ways to manage Ehler-Danlos syndrome are:
- Medications: Over-the-counter pain-relieving medications are usually the mainstay for EDS treatment.
Stronger medications may be required in the case of acute injuries. People with Ehler-Danlos syndrome have fragile blood vessels. So, doctors may want to lower their blood pressure with medications. - Physical therapy: Joints with weak connective tissue in Enhler Danlos increase the risk for dislocations. Physical therapy may be recommended to strengthen muscles and stabilize joints.
- Surgery: Surgery may be required in people with repeated joint dislocations or ruptured blood vessels and organs.
People with EDS usually have many healthcare professionals supporting their journey with the disease.
The healthcare team for EDS usually includes an occupational therapist, physiotherapist, and counselors.
Genetic counseling may help people understand their condition, how it is inherited, and the risk of passing it to their children.
There’s no specific treatment for EDS, but it’s possible to manage many of the symptoms.
Can EDS And Autism Co-occur?
There may be a genetic and symptom overlap between autism and EDS.
There is evidence linking EDS to autism, with some research showing that offspring of mothers with EDS have greater rates of autism.
According to a study, over 20% of mothers with EDS or hypermobility spectrum disorders had children with autism, similar to rates for mothers with autism.
Another 2023 survey reported that females with autism were more likely to have EDS than females without autism.
FAQs: Signs Of Ehlers-danlos Syndrome
What Are The Strange Symptoms Of EDS?
EDS has some unusual symptoms that may not immediately suggest a connective tissue disorder. These include
- stretchy or velvety skin
- easy bruising
- frequent joint dislocations
- chronic pain
- fragile blood vessels
Some people also experience digestive issues, fatigue, or even dizziness when standing up due to related conditions like POTS (Postural Orthostatic Tachycardia Syndrome).
What Are The Red Flags For Ehlers-Danlos Syndrome?
The main red flag for EDS is hypermobile joints, which move beyond the normal range.
Other signs can be a family history of connective tissue disorders, delayed wound healing, and gum fragility.
Early recognition is key, as EDS can affect multiple body systems.
How Does Ehlers-Danlos Affect Hair?
EDS does not directly affect hair growth or hair loss. However, nutritional deficiencies, common in some types of EDS due to digestive issues, may lead to hair thinning or brittleness. Collagen supplements are sometimes recommended to support overall connective tissue health, but their effect on hair growth is not fully established.
What Are The Facial Features Of EDS?
Some people with EDS may have subtle facial features that include thin, translucent skin, a narrow nose, or high cheekbones. In certain types, like vascular EDS, skin can appear paper-thin, especially around the eyes and nose. However, facial features can vary widely, and not all individuals with EDS will exhibit these traits.
Does EDS Affect Breasts?
Yes, EDS can affect breast tissue. Those with hypermobile EDS experience pain from large breasts. Some studies also report rare cases of calcifications (tiny spots of calcium) in the breast tissue.
Since people with EDS have more delicate tissues, everyday activities can cause small injuries (microtrauma) to the breast tissue.
These tiny injuries can lead to a healing process that sometimes leaves behind calcium deposits.
What Can Be Mistaken For Ehlers-Danlos?
EDS can be mistaken for other conditions that affect connective tissue, such as Marfan syndrome, Loeys-Dietz syndrome, or joint hypermobility syndrome.
Due to overlapping symptoms like chronic pain and fatigue, it may also be misdiagnosed as fibromyalgia.
Proper genetic testing and clinical evaluation by a specialist are crucial for accurate diagnosis.
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Ehlers Danlos Syndrome & The Eyes
Summary: 23 Signs You Grew Up With Ehlers-Danlos Syndrome
- Ehler-Danlos syndrome (EDS) is a group of rare inherited disorders that affect the body’s connective tissues.
- People with Ehler-Danlos syndrome are born with it, but their symptoms may take years or, sometimes, decades to show.
- There are around 13 different types of Ehler-Danlos syndrome, and hypermobility EDS (hEDS) is the most common type.
- Ehler-Danlos syndrome is a genetic condition; to date, over 20 genes, including COL1A1 and COL1A2, have been associated with the condition.
- Most people with Ehler-Danlos are unaware of their condition as they are unable to spot signs like easy skin bruising and joint dislocation.
References
- https://themighty.com/topic/ehlers-danlos-syndrome/signs-growing-up-with-ehlers-danlos-syndrome-eds/
- https://www.yahoo.com/news/22-signs-grew-hypermobility-002742611.html
- https://www.nhs.uk/conditions/ehlers-danlos-syndromes/
- https://www.actifypt.com/post/7-symptoms-of-ehlers-danlos-syndrome-that-google-wone28099t-tell-you-about
- https://blog.cincinnatichildrens.org/rare-and-complex-conditions/ehlers-danlos-syndrome-the-lengthy-road-to-diagnosis/
- https://www.ehlers-danlos.com/what-is-eds/
