May 8, 2025 • 17 mins
Ehlers Danlos Syndrome: What is it? What are the Symptoms? And how do we diagnose it? In this episode, we will go over the history of Ehlers Danlos Syndrome, the different types of Ehlers danlos syndrome, and some of the methods used to treat and manage Ehlers Danlos syndrome. Tune in to learn more!
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Resources:
Ehlers Danlos Syndrome Research Foundation (US): https://www.edsrf.org/
Ehlers danlos society (international): https://www.ehlers-danlos.com/
References:
https://pubmed.ncbi.nlm.nih.gov/18324963/
https://www.ehlers-danlos.com/ehlers-danlos-syndrome-or-disease/
https://www.bbc.co.uk/ahistoryoftheworld/objects/SWjN7CTlSFaR98HwiSDWeQ
https://researchonline.rcm.ac.uk/id/eprint/748/1/current.musicology.83.kawabata.85-108.pdf
https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125
https://my.clevelandclinic.org/health/diseases/17813-ehlers-danlos-syndrome
https://www.ehlers-danlos.com/what-is-eds/
https://www.health.state.mn.us/diseases/cy/hipdislocation.html
https://tcapp.org/why-greys-anatomy-did-not-blow-the-ehlers-danlos-episode/
https://www.eds.clinic/articles/impact-of-greys-anatomy-on-eds-awareness
https://my.clevelandclinic.org/health/body/connective-tissue
https://www.nhs.uk/conditions/ehlers-danlos-syndromes/
*This podcast is for entertainment purposes only. If you suspect you have a medical condition, please seek out an opinion of a medical professional.*
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Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
As you get up in the morning, feeling tired and drained like you hardly slept, you notice
(00:04):
strange bruises on your legs.
You know they weren't from soccer practice as you missed the session last night due to
your muscle and joint pain being worse than usual, especially in your shoulder.
You clumsily stumble down the stairs, still half asleep to find your mom still making
breakfast.
She turns to greet you and just stares, with her mouth wide open, with a look of confusion
(00:25):
and shock.
She asks if your shoulder hurts, and why does it look like that?
Like what, you ask?
She says like it's hanging out of its socket.
Concerned about your shoulder, she decides to book you a doctor's appointment.
(00:54):
Hello and Welcome to Anatomy Of Illness.
Today's episode is about Ehlers-Danlos Syndrome.
Before we get into the condition, we are going to start with the history.
So why do we know Ehlers-Danlos Syndrome exists?
We begin in 400 BC with Hippocrates, more specifically with his text "Airs, Waters
and Places".
In this text, he discussed how nomads and Scythians had multiple scars and also lax
(01:17):
joints.
It was suggested that these scars were caused by cauterization that was applied to tighten
up these loose joints.
The mention of anything Ehlers-Danlos would be minimal for quite some time after Hippocrates'
comments.
That was until 1657.
This was with the Dutch surgeon Job Janszoon van Meek’ren, who would encounter a boy by
the name of George Albes.
(01:39):
He was of Spanish origin.
Now George was a frequent visitor of the Academy of Leyland.
This is where he would demonstrate some interesting abilities.
More specifically, his skin's abnormally remarkable ability to stretch.
George had the ability to stretch the skin of his chin, making it reach his chest when
pulled in one direction or cover his eyes when pulled in another.
(02:00):
The skin on his chin was not the only skin that could be stretched.
The skin over his knees could also be stretched.
It could be pulled out to the length of half an ell. An ell is not a standard unit of measurement
but the term comes from the Latin word "ulnia" meaning "arm", as this was assumed to
be the average length of a person's arm.
This of course varied by countries, so an ell in England is 45 inches which is 1.143 metres
(02:25):
and a Scottish ell is 37 inches which is about 94 centimetres, so just under a metre.
Basically his skin above the knee could be stretched to around half a metre.
It's hard to say exactly what type of an ell, as it is not specifically stated, but anyway
moving on from non-standard units of measurement and back to George Albes.
In the rest of his body, this incredibly stretchy skin mainly affected only his right side.
(02:50):
Now we are going to move on to between 1782 and 1840.
This is where we would meet an incredibly talented violinist.
One described as the virtuoso in Excelsis, this is Niccolò Paganini.
He would perform feats that were seen as inhuman.
For this he was known as several things, like the Devil's Violinist, Hexenmeister and
(03:12):
Hexensohn, just to name a few.
People believed he was able to perform in this way due to selling his soul to the devil
for talent.
Other explanations is his mother sold his soul to the devil for his talent.
However, it would not exactly be like that.
Instead Niccolò Paganini had hypermobile joints, joint laxity, thoracic deformity and
a slender physique.
(03:33):
These are all signs of Ehlers-Danlos Syndrome.
So it is often believed that he had Ehlers-Danlos Syndrome or Marfan Syndrome.
So the Devil's Violinist was not someone who sold their soul.
He most likely had a connective tissue disorder.
Moving on from violinists and into 1892 in Moscow with Dr. Tschernogobow.
This is where we would have the first comprehensive description of a syndrome that had features
(03:57):
of laxity and fragility of the skin as well as hypermobility of the large joints.
This paper was published after Dr. Tshernogobow presented two patients at the Moscow Venereology
and Dermatology Society.
The first of these two patients was a 17-year-old man who had epilepsy and presented with fragility
and hyperelasticity of the skin and a failure to hold sutures.
(04:20):
He also had hypermobility and luxation of the joints and musculoid pseudotumors on the
knees, elbows and other areas.
In the late 19th century we would have the appearance of cases of Ehlers-Danlos Syndrome
appearing and being documented in sideshows.
Examples of these are the Indian Rubber Man and the Elastic Lady.
However this condition still would not have a name.
(04:42):
In 1901 the Danish dermatologist Edvard-Lauritz Ehlers would publish about a patient with
Ehlers-Danlos Syndrome.
This patient had lax joints, hyperexcensible skin and a tendency towards bruising.
The patient also had a history of delayed walking and frequent subluxations of the knees.
The case of this patient was presented at the Dermatological Society of Denmark two
(05:03):
years prior to publishing in 1899.
In 1908 the French physician Henri-Alexandre Danlos would examine a patient who had previously
been diagnosed with Juvenile Pseudodiabetic Xanthoma by Hallopeau and De Lepinay.
This patient had lesions on their elbows and knees but Dr. Danlos did not agree with the
(05:24):
previous diagnosis and was encouraged by a pathologist by the name of Pautier who assisted
him in investigating the case further.
This led to Danlos suggesting that the lesions were vascular and inflammatory and were actually
caused by trauma.
Now we move to 1934 with Tobias.
Here we would have the first case report of Ehlers-Danlos Syndrome in America.
(05:46):
Two years later we would have Weber who would report six examples of Ehlers-Danlos Syndrome
throughout England.
One of these cases being a report from 1900.
In this case the boy was presented at the Dermatological Society of England however
his diagnosis at the time was inconclusive.
Weber attempted to break down these conditions.
With this he highlighted hyperextensible and fragile skin along with joint laxity in the
(06:08):
groups of cases he identified.
This is where he would give the condition the name Ehlers-Danlos Syndrome.
Moving on to 1972.
This is where Pinell and their colleagues would discover the first genetic mutation for a
type of Ehlers-Danlos Syndrome.
This form was autosomal recessive and caused people with it to be prone to scoliosis and
ocular globe rupture.
This specific mutation caused a deficiency in lysyl hydroxylase and was the first confirmed
(06:33):
collagen disorder.
If you have been enjoying this episode and think someone else may enjoy it, don't forget
to share it.
So what actually causes Ehlers-Danlos Syndrome?
Well, Ehlers-Danlos Syndrome is actually an umbrella term for 13 conditions that come
under the name.
These conditions are genetic, depending on the form will depend on the inheritance pattern.
The inheritance can either be autosomal dominant or autosomal recessive, again this depends
(06:55):
on the type of Ehlers-Danlos Syndrome.
So which types are autosomal dominant?
Hypermobile Ehlers-Danlos Syndrome.
This is the most common form of Ehlers-Danlos Syndrome.
However, currently the gene for this form is unknown.
It affects between 1 in 3,100 people and 1 in 5,000 people.
The features of this condition that often distinguish it from other forms are generalised
(07:16):
joint hypermobility, joint instability and chronic pain.
There is also classic Ehlers-Danlos Syndrome, this is the second most common form of Ehlers-Danlos
Syndrome affecting between 1 in 20,000 people and 1 in 40,000 people.
It has 3 identified genes that are affected in this form.
These are the COL5A1 and COL5A2 genes which affect collagen type 5 and the COL1A1 gene
(07:42):
which affects collagen type 1.
The features that distinguish this form are skin fragility with extensive atropic scarring,
very stretchy skin with velvety soft or doughy texture.
Speaking of soft, you should check out the hoodies at merchanatomy.com.
Now those bad boys are soft.
But anyway, moving on.
Vascular Ehlers-Danlos Syndrome.
This type has 2 genes that can cause it.
(08:03):
These are the COL3A1 gene which affects the type 3 collagen and the COL1A1 gene which
again affects the type 1 collagen.
Although this one is the same collagen seen in classical type, it is a different mutation
so it causes a different condition.
This form occurs in 1 in every 100,000 people to 1 in every 200,000 people.
(08:24):
The features often seen in this type are extensive bruising, pneumothorax, organ fragility and
rupture, and arterial fragility with aneurysm, rupture or dissection.
Peridontal Ehlers-Danlos Syndrome.
This is where we start to get into very rare forms of Ehlers-Danlos Syndrome.
This type occurs in less than 1 in a million people, as do all of the ones I will mention
(08:45):
after.
This is caused by a mutation in either the C1R gene which affects the C1R protein or
the C1S gene which affects the C1S protein.
The distinct features we will see in this form are severe early onset gum disease with
tooth loss and pre-tibial plaques.
So this is a discoloration of the shins.
Atherochalasia Ehlers-Danlos Syndrome.
(09:07):
This form is caused by mutations in either the COL1A1 gene or the COL1A2 gene.
Both of these affect type 1 collagen.
This form causes severe joint hypermobility.
It can also cause congenital bilateral hip dislocation.
This is where the hip joint is unstable or the hip is dislocated on birth at both sides.
(09:27):
And Myopathic Ehlers-Danlos Syndrome.
This form can also be inherited in a recessive pattern.
This form is caused by a mutation in the COL12A1 gene.
This affects collagen type 12 protein.
It causes congenital hypotonia, so this is weak muscle tone, and proximal joint contractures.
This is where the tissue shorten and tighten leading to a loss in range of motions.
(09:48):
The types which are inherited in an autosomal recessive pattern are
Kyphoscoliotic Ehlers-Danlos Syndrome.
With this type you see Congenital or early onset kyphoscholiosis, which is a combination
of kyphosis, which is the excessive forward curvature of the spine at the top, and scoliosis,
which is the abnormal sideways curvature of the spine, which we discussed in episode 9.
(10:10):
It also causes congenital hypotonia, which again is the low or weak muscle tone from
birth.
This form is caused by defects in the PLOD1 gene, which affects the LH1 protein, or the
FKBP14 gene, which affects the FKBP22 protein.
Spondylodysplastic Ehlers-Danlos Syndrome.
(10:31):
This form has several genes that can cause it.
These are the B4GALT7 gene, the B3GALT6 gene, and the SLC39A13 gene.
This form's distinguishing features are short stature, muscle weakness, limb bowing,
and various craniofacial features.
Brittle cornea syndrome.
(10:51):
The features often seen in this form are hearing loss and severe problems with the cornea of
the eye.
This form is caused by mutations in either the ZNF469 gene, or the PRDM5 gene.
Musculocontractual Ehlers-Danlos Syndrome.
This form is caused by mutations in the DSE gene, or mutations in the CHST14 gene.
(11:13):
The distinguishing features for this form are distinct craniofacial features, and multiple
contractures from birth.
Classic-like Ehlers-Danlos Syndrome.
This is not to be confused with classical Ehlers-Danlos Syndrome, as there are a few
differences.
In this form, the features are stretchy and velvety skin, without atropic scarring, foot
deformities, and leg swelling.
It is caused by mutations in the T and XB gene, which affects the Tenacin XB protein.
(11:38):
Dermatospraxis Ehlers-Danlos Syndrome.
This form is caused by mutations in the ADAMTS2 gene.
The distinguishing features in this form are extreme skin fragility, craniofacial features,
loose and excessive skin, severe bruising, and short limbs.
Cardiac Valvular Ehlers-Danlos Syndrome.
This form is not to be confused with Vascular Ehlers-Danlos Syndrome.
(12:00):
Cardiac Valvular Ehlers-Danlos Syndrome causes severe heart valve insufficiency.
The gene that causes this form is the COL1A2 gene, which affects the type 1 collagen protein.
How do we diagnose Ehlers-Danlos Syndrome?
Well, a doctor will do a physical exam, checking for signs and symptoms of Ehlers-Danlos Syndrome.
This can be through examining your skin and your joints.
(12:21):
With this, the doctor will ask questions to do with family medical history and personal
medical history.
So, do you have a history of joint dislocations?
Are there any medications or activities that make your symptoms worse?
When did you first notice your symptoms?
Depending on the symptoms will depend on what further testing will be run.
This may include genetic testing to rule in or rule out various forms of Ehlers-Danlos
Syndrome, as well as other conditions.
(12:42):
When it comes to Ehlers-Danlos Syndrome, it is often associated with other conditions
like Postural Orthostatic Tachycardia Syndrome, which is POTS, Mast Cell Activation Syndrome,
and many others so it can make diagnosis and treatment difficult.
We'll get right into the symptoms and presentation right after this little break.
(13:10):
If you have been enjoying this episode, you should support us on BuyMeACoffee.
Your support helps us keep the show running.
What symptoms might you have if you had Ehlers-Danlos Syndrome?
The symptoms of this condition will vary across the different forms.
However, there are some symptoms that are commonly seen across the different forms of
Ehlers-Danlos Syndrome.
These include fatigue, so this is the constant feeling of being tired or exhausted no matter
how much you rest or sleep, difficulty concentrating, bruising more easily or more often than considered
(13:34):
normal, joint and muscle pain, unusual scarring, or taking an unusually long time to heal after
a cut or small wound.
The type of scarring will, of course, depend on the form of Ehlers-Danlos Syndrome.
Soft skin that is thinner and stretches more than it should, overly flexible or hypermobile
joints - this may make your joints feel like they are loose or even unstable.
(13:55):
Everyone's symptoms will be different, as not everyone with Ehlers-Danlos Syndrome will
have the same form, and many people with the same form do experience the condition differently.
There are many symptoms that can be seen throughout the body when it comes to different forms
of Ehlers-Danlos Syndrome that you may not even realise are connected, which is why when
you can't connect the issues, it may be time to consider the connective tissues.
What should doctors be aware of when it comes to Ehlers-Danlos Syndrome?
(14:17):
This will vary based on the form of Ehlers-Danlos Syndrome, but one type of Ehlers-Danlos Syndrome
that a doctor should be aware of is Vascular Ehlers-Danlos Syndrome.
This form can lead to a weakening of the aorta and other arteries throughout the body.
This can lead to a rupture of blood vessels, which can be fatal.
This form of Ehlers-Danlos Syndrome can also lead to the weakening of the walls of the
large intestine and the uterus, also causing them to rupture.
(14:38):
There are other complications for other forms of Ehlers-Danlos Syndrome.
These can be seen across the various types.
These complications include early onset arthritis.
This is caused by the joints being overly flexible and having frequent joint dislocations.
Prominent scarring.
This is caused by injuries to the fragile skin.
How do we treat Ehlers-Danlos Syndrome?
Currently, there is not a specific treatment that really works on all types.
(14:58):
Most of the treatment is generic advice, such as using sunscreen and mild soaps to protect
the skin, as people with Ehlers-Danlos Syndrome have more fragile skin than most.
Wearing braces for joint support, especially if it is a joint that you have problems with.
Physical therapy.
This is done to strengthen the muscles around the joints, which in turn support the joints
better.
There are also recommendations to avoid various activities that may increase the risk of injury
(15:21):
when it comes to Ehlers-Danlos Syndrome.
These include avoiding strenuous or heavy lifting, avoiding high impact exercise, and
avoiding contact sports.
Various surgeries may be recommended in the cases of repeat dislocations to repair the
joint.
However, it is difficult due to the possibility of the wounds not healing correctly.
These can also be done in the case of ruptured areas in the organs and blood vessels.
(15:43):
However, again, these are made more complicated due to the poor wound healing and the possibility
of the stitches tearing through the fragile tissues in Ehlers-Danlos Syndrome.
Are there any famous people with Ehlers-Danlos Syndrome?
Yes, there is Jameela Jamil, who you may know from her role in The Good Place.
Jameela Jamil has Hypermobile Type Ehlers-Danlos Syndrome, and after sharing her diagnosis,
(16:03):
has become an advocate for those with the condition, being awarded Patient Advocate
of the Year from the Ehlers-Danlos Society in 2019.
For those who would like to check out an episode of Sonic on TV, there is Grey's Anatomy
Season 13 Episode 4, Balling Slowly.
In this episode, there is a teenager who presents with dehydration and is accused of having
alcoholism due to her frequent visits to the emergency rooms.
(16:26):
With this misdiagnosis and the doctors approaching her, they are able to observe a symptom that
is commonly seen in those with various forms of Ehlers-Danlos Syndrome, leading to her
eventually getting diagnosed with the correct diagnosis.
If you would like to check out a foundation, there is, for those in the US, the Ehlers-Danlos
Syndrome Research Foundation.
This foundation supports research into diagnostic and therapeutic care of Ehlers-Danlos Syndrome
(16:49):
and other similar conditions.
And there is also a global foundation known as the Ehlers-Danlos Society.
They are dedicated to advancing the research and education in Ehlers-Danlos Syndrome.
They also provide a healthcare professionals directory that has practitioners that are
informed and familiar with diagnosing and managing Ehlers-Danlos Syndrome to help those
in need of finding a healthcare specialist for their needs.
(17:37):
Did you know there are two main forms of connective tissue?
These are loose, which is also known as areolar.
This is the soft elastic padding that fills the space between your organs and tissues.
And there is dense connective tissue.
This is tougher and protects your body's structure.
This is various things like the dermis, which is the middle layer of the skin, the tendons,
ligaments and even the whites of your eyes.
As you get up in the morning, feeling tired and drained like you hardly slept, you notice
(00:04):
strange bruises on your legs.
You know they weren't from soccer practice as you missed the session last night due to
your muscle and joint pain being worse than usual, especially in your shoulder.
You clumsily stumble down the stairs, still half asleep to find your mom still making
breakfast.
She turns to greet you and just stares, with her mouth wide open, with a look of confusion
(00:25):
and shock.
She asks if your shoulder hurts, and why does it look like that?
Like what, you ask?
She says like it's hanging out of its socket.
Concerned about your shoulder, she decides to book you a doctor's appointment.
(00:54):
Hello and Welcome to Anatomy Of Illness.
Today's episode is about Ehlers-Danlos Syndrome.
Before we get into the condition, we are going to start with the history.
So why do we know Ehlers-Danlos Syndrome exists?
We begin in 400 BC with Hippocrates, more specifically with his text "Airs, Waters
and Places".
In this text, he discussed how nomads and Scythians had multiple scars and also lax
(01:17):
joints.
It was suggested that these scars were caused by cauterization that was applied to tighten
up these loose joints.
The mention of anything Ehlers-Danlos would be minimal for quite some time after Hippocrates'
comments.
That was until 1657.
This was with the Dutch surgeon Job Janszoon van Meek’ren, who would encounter a boy by
the name of George Albes.
(01:39):
He was of Spanish origin.
Now George was a frequent visitor of the Academy of Leyland.
This is where he would demonstrate some interesting abilities.
More specifically, his skin's abnormally remarkable ability to stretch.
George had the ability to stretch the skin of his chin, making it reach his chest when
pulled in one direction or cover his eyes when pulled in another.
(02:00):
The skin on his chin was not the only skin that could be stretched.
The skin over his knees could also be stretched.
It could be pulled out to the length of half an ell. An ell is not a standard unit of measurement
but the term comes from the Latin word "ulnia" meaning "arm", as this was assumed to
be the average length of a person's arm.
This of course varied by countries, so an ell in England is 45 inches which is 1.143 metres
(02:25):
and a Scottish ell is 37 inches which is about 94 centimetres, so just under a metre.
Basically his skin above the knee could be stretched to around half a metre.
It's hard to say exactly what type of an ell, as it is not specifically stated, but anyway
moving on from non-standard units of measurement and back to George Albes.
In the rest of his body, this incredibly stretchy skin mainly affected only his right side.
(02:50):
Now we are going to move on to between 1782 and 1840.
This is where we would meet an incredibly talented violinist.
One described as the virtuoso in Excelsis, this is Niccolò Paganini.
He would perform feats that were seen as inhuman.
For this he was known as several things, like the Devil's Violinist, Hexenmeister and
(03:12):
Hexensohn, just to name a few.
People believed he was able to perform in this way due to selling his soul to the devil
for talent.
Other explanations is his mother sold his soul to the devil for his talent.
However, it would not exactly be like that.
Instead Niccolò Paganini had hypermobile joints, joint laxity, thoracic deformity and
a slender physique.
(03:33):
These are all signs of Ehlers-Danlos Syndrome.
So it is often believed that he had Ehlers-Danlos Syndrome or Marfan Syndrome.
So the Devil's Violinist was not someone who sold their soul.
He most likely had a connective tissue disorder.
Moving on from violinists and into 1892 in Moscow with Dr. Tschernogobow.
This is where we would have the first comprehensive description of a syndrome that had features
(03:57):
of laxity and fragility of the skin as well as hypermobility of the large joints.
This paper was published after Dr. Tshernogobow presented two patients at the Moscow Venereology
and Dermatology Society.
The first of these two patients was a 17-year-old man who had epilepsy and presented with fragility
and hyperelasticity of the skin and a failure to hold sutures.
(04:20):
He also had hypermobility and luxation of the joints and musculoid pseudotumors on the
knees, elbows and other areas.
In the late 19th century we would have the appearance of cases of Ehlers-Danlos Syndrome
appearing and being documented in sideshows.
Examples of these are the Indian Rubber Man and the Elastic Lady.
However this condition still would not have a name.
(04:42):
In 1901 the Danish dermatologist Edvard-Lauritz Ehlers would publish about a patient with
Ehlers-Danlos Syndrome.
This patient had lax joints, hyperexcensible skin and a tendency towards bruising.
The patient also had a history of delayed walking and frequent subluxations of the knees.
The case of this patient was presented at the Dermatological Society of Denmark two
(05:03):
years prior to publishing in 1899.
In 1908 the French physician Henri-Alexandre Danlos would examine a patient who had previously
been diagnosed with Juvenile Pseudodiabetic Xanthoma by Hallopeau and De Lepinay.
This patient had lesions on their elbows and knees but Dr. Danlos did not agree with the
(05:24):
previous diagnosis and was encouraged by a pathologist by the name of Pautier who assisted
him in investigating the case further.
This led to Danlos suggesting that the lesions were vascular and inflammatory and were actually
caused by trauma.
Now we move to 1934 with Tobias.
Here we would have the first case report of Ehlers-Danlos Syndrome in America.
(05:46):
Two years later we would have Weber who would report six examples of Ehlers-Danlos Syndrome
throughout England.
One of these cases being a report from 1900.
In this case the boy was presented at the Dermatological Society of England however
his diagnosis at the time was inconclusive.
Weber attempted to break down these conditions.
With this he highlighted hyperextensible and fragile skin along with joint laxity in the
(06:08):
groups of cases he identified.
This is where he would give the condition the name Ehlers-Danlos Syndrome.
Moving on to 1972.
This is where Pinell and their colleagues would discover the first genetic mutation for a
type of Ehlers-Danlos Syndrome.
This form was autosomal recessive and caused people with it to be prone to scoliosis and
ocular globe rupture.
This specific mutation caused a deficiency in lysyl hydroxylase and was the first confirmed
(06:33):
collagen disorder.
If you have been enjoying this episode and think someone else may enjoy it, don't forget
to share it.
So what actually causes Ehlers-Danlos Syndrome?
Well, Ehlers-Danlos Syndrome is actually an umbrella term for 13 conditions that come
under the name.
These conditions are genetic, depending on the form will depend on the inheritance pattern.
The inheritance can either be autosomal dominant or autosomal recessive, again this depends
(06:55):
on the type of Ehlers-Danlos Syndrome.
So which types are autosomal dominant?
Hypermobile Ehlers-Danlos Syndrome.
This is the most common form of Ehlers-Danlos Syndrome.
However, currently the gene for this form is unknown.
It affects between 1 in 3,100 people and 1 in 5,000 people.
The features of this condition that often distinguish it from other forms are generalised
(07:16):
joint hypermobility, joint instability and chronic pain.
There is also classic Ehlers-Danlos Syndrome, this is the second most common form of Ehlers-Danlos
Syndrome affecting between 1 in 20,000 people and 1 in 40,000 people.
It has 3 identified genes that are affected in this form.
These are the COL5A1 and COL5A2 genes which affect collagen type 5 and the COL1A1 gene
(07:42):
which affects collagen type 1.
The features that distinguish this form are skin fragility with extensive atropic scarring,
very stretchy skin with velvety soft or doughy texture.
Speaking of soft, you should check out the hoodies at merchanatomy.com.
Now those bad boys are soft.
But anyway, moving on.
Vascular Ehlers-Danlos Syndrome.
This type has 2 genes that can cause it.
(08:03):
These are the COL3A1 gene which affects the type 3 collagen and the COL1A1 gene which
again affects the type 1 collagen.
Although this one is the same collagen seen in classical type, it is a different mutation
so it causes a different condition.
This form occurs in 1 in every 100,000 people to 1 in every 200,000 people.
(08:24):
The features often seen in this type are extensive bruising, pneumothorax, organ fragility and
rupture, and arterial fragility with aneurysm, rupture or dissection.
Peridontal Ehlers-Danlos Syndrome.
This is where we start to get into very rare forms of Ehlers-Danlos Syndrome.
This type occurs in less than 1 in a million people, as do all of the ones I will mention
(08:45):
after.
This is caused by a mutation in either the C1R gene which affects the C1R protein or
the C1S gene which affects the C1S protein.
The distinct features we will see in this form are severe early onset gum disease with
tooth loss and pre-tibial plaques.
So this is a discoloration of the shins.
Atherochalasia Ehlers-Danlos Syndrome.
(09:07):
This form is caused by mutations in either the COL1A1 gene or the COL1A2 gene.
Both of these affect type 1 collagen.
This form causes severe joint hypermobility.
It can also cause congenital bilateral hip dislocation.
This is where the hip joint is unstable or the hip is dislocated on birth at both sides.
(09:27):
And Myopathic Ehlers-Danlos Syndrome.
This form can also be inherited in a recessive pattern.
This form is caused by a mutation in the COL12A1 gene.
This affects collagen type 12 protein.
It causes congenital hypotonia, so this is weak muscle tone, and proximal joint contractures.
This is where the tissue shorten and tighten leading to a loss in range of motions.
(09:48):
The types which are inherited in an autosomal recessive pattern are
Kyphoscoliotic Ehlers-Danlos Syndrome.
With this type you see Congenital or early onset kyphoscholiosis, which is a combination
of kyphosis, which is the excessive forward curvature of the spine at the top, and scoliosis,
which is the abnormal sideways curvature of the spine, which we discussed in episode 9.
(10:10):
It also causes congenital hypotonia, which again is the low or weak muscle tone from
birth.
This form is caused by defects in the PLOD1 gene, which affects the LH1 protein, or the
FKBP14 gene, which affects the FKBP22 protein.
Spondylodysplastic Ehlers-Danlos Syndrome.
(10:31):
This form has several genes that can cause it.
These are the B4GALT7 gene, the B3GALT6 gene, and the SLC39A13 gene.
This form's distinguishing features are short stature, muscle weakness, limb bowing,
and various craniofacial features.
Brittle cornea syndrome.
(10:51):
The features often seen in this form are hearing loss and severe problems with the cornea of
the eye.
This form is caused by mutations in either the ZNF469 gene, or the PRDM5 gene.
Musculocontractual Ehlers-Danlos Syndrome.
This form is caused by mutations in the DSE gene, or mutations in the CHST14 gene.
(11:13):
The distinguishing features for this form are distinct craniofacial features, and multiple
contractures from birth.
Classic-like Ehlers-Danlos Syndrome.
This is not to be confused with classical Ehlers-Danlos Syndrome, as there are a few
differences.
In this form, the features are stretchy and velvety skin, without atropic scarring, foot
deformities, and leg swelling.
It is caused by mutations in the T and XB gene, which affects the Tenacin XB protein.
(11:38):
Dermatospraxis Ehlers-Danlos Syndrome.
This form is caused by mutations in the ADAMTS2 gene.
The distinguishing features in this form are extreme skin fragility, craniofacial features,
loose and excessive skin, severe bruising, and short limbs.
Cardiac Valvular Ehlers-Danlos Syndrome.
This form is not to be confused with Vascular Ehlers-Danlos Syndrome.
(12:00):
Cardiac Valvular Ehlers-Danlos Syndrome causes severe heart valve insufficiency.
The gene that causes this form is the COL1A2 gene, which affects the type 1 collagen protein.
How do we diagnose Ehlers-Danlos Syndrome?
Well, a doctor will do a physical exam, checking for signs and symptoms of Ehlers-Danlos Syndrome.
This can be through examining your skin and your joints.
(12:21):
With this, the doctor will ask questions to do with family medical history and personal
medical history.
So, do you have a history of joint dislocations?
Are there any medications or activities that make your symptoms worse?
When did you first notice your symptoms?
Depending on the symptoms will depend on what further testing will be run.
This may include genetic testing to rule in or rule out various forms of Ehlers-Danlos
Syndrome, as well as other conditions.
(12:42):
When it comes to Ehlers-Danlos Syndrome, it is often associated with other conditions
like Postural Orthostatic Tachycardia Syndrome, which is POTS, Mast Cell Activation Syndrome,
and many others so it can make diagnosis and treatment difficult.
We'll get right into the symptoms and presentation right after this little break.
(13:10):
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What symptoms might you have if you had Ehlers-Danlos Syndrome?
The symptoms of this condition will vary across the different forms.
However, there are some symptoms that are commonly seen across the different forms of
Ehlers-Danlos Syndrome.
These include fatigue, so this is the constant feeling of being tired or exhausted no matter
how much you rest or sleep, difficulty concentrating, bruising more easily or more often than considered
(13:34):
normal, joint and muscle pain, unusual scarring, or taking an unusually long time to heal after
a cut or small wound.
The type of scarring will, of course, depend on the form of Ehlers-Danlos Syndrome.
Soft skin that is thinner and stretches more than it should, overly flexible or hypermobile
joints - this may make your joints feel like they are loose or even unstable.
(13:55):
Everyone's symptoms will be different, as not everyone with Ehlers-Danlos Syndrome will
have the same form, and many people with the same form do experience the condition differently.
There are many symptoms that can be seen throughout the body when it comes to different forms
of Ehlers-Danlos Syndrome that you may not even realise are connected, which is why when
you can't connect the issues, it may be time to consider the connective tissues.
What should doctors be aware of when it comes to Ehlers-Danlos Syndrome?
(14:17):
This will vary based on the form of Ehlers-Danlos Syndrome, but one type of Ehlers-Danlos Syndrome
that a doctor should be aware of is Vascular Ehlers-Danlos Syndrome.
This form can lead to a weakening of the aorta and other arteries throughout the body.
This can lead to a rupture of blood vessels, which can be fatal.
This form of Ehlers-Danlos Syndrome can also lead to the weakening of the walls of the
large intestine and the uterus, also causing them to rupture.
(14:38):
There are other complications for other forms of Ehlers-Danlos Syndrome.
These can be seen across the various types.
These complications include early onset arthritis.
This is caused by the joints being overly flexible and having frequent joint dislocations.
Prominent scarring.
This is caused by injuries to the fragile skin.
How do we treat Ehlers-Danlos Syndrome?
Currently, there is not a specific treatment that really works on all types.
(14:58):
Most of the treatment is generic advice, such as using sunscreen and mild soaps to protect
the skin, as people with Ehlers-Danlos Syndrome have more fragile skin than most.
Wearing braces for joint support, especially if it is a joint that you have problems with.
Physical therapy.
This is done to strengthen the muscles around the joints, which in turn support the joints
better.
There are also recommendations to avoid various activities that may increase the risk of injury
(15:21):
when it comes to Ehlers-Danlos Syndrome.
These include avoiding strenuous or heavy lifting, avoiding high impact exercise, and
avoiding contact sports.
Various surgeries may be recommended in the cases of repeat dislocations to repair the
joint.
However, it is difficult due to the possibility of the wounds not healing correctly.
These can also be done in the case of ruptured areas in the organs and blood vessels.
(15:43):
However, again, these are made more complicated due to the poor wound healing and the possibility
of the stitches tearing through the fragile tissues in Ehlers-Danlos Syndrome.
Are there any famous people with Ehlers-Danlos Syndrome?
Yes, there is Jameela Jamil, who you may know from her role in The Good Place.
Jameela Jamil has Hypermobile Type Ehlers-Danlos Syndrome, and after sharing her diagnosis,
(16:03):
has become an advocate for those with the condition, being awarded Patient Advocate
of the Year from the Ehlers-Danlos Society in 2019.
For those who would like to check out an episode of Sonic on TV, there is Grey's Anatomy
Season 13 Episode 4, Balling Slowly.
In this episode, there is a teenager who presents with dehydration and is accused of having
alcoholism due to her frequent visits to the emergency rooms.
(16:26):
With this misdiagnosis and the doctors approaching her, they are able to observe a symptom that
is commonly seen in those with various forms of Ehlers-Danlos Syndrome, leading to her
eventually getting diagnosed with the correct diagnosis.
If you would like to check out a foundation, there is, for those in the US, the Ehlers-Danlos
Syndrome Research Foundation.
This foundation supports research into diagnostic and therapeutic care of Ehlers-Danlos Syndrome
(16:49):
and other similar conditions.
And there is also a global foundation known as the Ehlers-Danlos Society.
They are dedicated to advancing the research and education in Ehlers-Danlos Syndrome.
They also provide a healthcare professionals directory that has practitioners that are
informed and familiar with diagnosing and managing Ehlers-Danlos Syndrome to help those
in need of finding a healthcare specialist for their needs.
(17:37):
Did you know there are two main forms of connective tissue?
These are loose, which is also known as areolar.
This is the soft elastic padding that fills the space between your organs and tissues.
And there is dense connective tissue.
This is tougher and protects your body's structure.
This is various things like the dermis, which is the middle layer of the skin, the tendons,
ligaments and even the whites of your eyes.
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