Ehlers-Danlos Syndrome (EDS) (also known as "Cutis hyperelastica") is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connective tissue). The collagen in connective tissue helps tissues to resist deformation (increases its elasticity). In the skin, muscles, ligaments, blood vessels, and visceral organs collagen plays a very significant role and with reduced elasticity, secondary to abnormal collagen, pathology results. Depending on the individual mutation, the severity of the syndrome can vary from mild to life-threatening. There is no cure and treatment is supportive, including close monitoring of cardiovascular system.
The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.Symptoms vary widely based on which type of EDS the patient has. In each case, however, the symptoms are ultimately due to faulty or reduced amounts of Type III collagen. EDS most typically affects the joints, skin, and blood vessels, the major signs and symptoms include:
* Highly flexible fingers and toes
* Loose, unstable joints that are prone to: sprains, dislocations, subluxations (partial dislocations), hyperextension (double jointedness)
* Flat feet
* High and narrow palate, resulting in dental crowding
* Easy bruising
* Fragile blood vessels resulting from cystic medial necrosis with tendency towards aneurysm (even abdominal aortic aneurysm)
* Velvety-smooth skin which may be stretchy
* Abnormal wound healing and scar formation
* Low muscle tone and Muscle weakness
* Early onset of osteoarthritis
* Cardiac effects: Dysautonomia typically accompanied by Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse)
Other, less common symptoms and complications can include:
* Osteopenia (low bone density)
* Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility , Arnold-Chiari malformation
* Functional bowel disorders (functional gastritis, irritable bowel syndrome)
* Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)
* Vascular skin conditions: Raynaud's phenomenon, Livedo reticularis
* Fibromyalgia symptoms: Myalgia and arthralgia
* otosclerosis (hearing loss)
* Premature rupture of membranes during pregnancy
* Platelet aggregation failure (platelets do not clump together properly)
* Infants with hypermobile joints often appear to have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking
* Arterial/intestinal/uterine fragility or rupture
Because it is often goes undiagnosed in childhood, some instances of Ehlers-Danlos syndrome have been mischaracterized as child abuse. The pain associated with this condition is a serious complication.
The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.Symptoms vary widely based on which type of EDS the patient has. In each case, however, the symptoms are ultimately due to faulty or reduced amounts of Type III collagen. EDS most typically affects the joints, skin, and blood vessels, the major signs and symptoms include:
* Highly flexible fingers and toes
* Loose, unstable joints that are prone to: sprains, dislocations, subluxations (partial dislocations), hyperextension (double jointedness)
* Flat feet
* High and narrow palate, resulting in dental crowding
* Easy bruising
* Fragile blood vessels resulting from cystic medial necrosis with tendency towards aneurysm (even abdominal aortic aneurysm)
* Velvety-smooth skin which may be stretchy
* Abnormal wound healing and scar formation
* Low muscle tone and Muscle weakness
* Early onset of osteoarthritis
* Cardiac effects: Dysautonomia typically accompanied by Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse)
Other, less common symptoms and complications can include:
* Osteopenia (low bone density)
* Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility , Arnold-Chiari malformation
* Functional bowel disorders (functional gastritis, irritable bowel syndrome)
* Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)
* Vascular skin conditions: Raynaud's phenomenon, Livedo reticularis
* Fibromyalgia symptoms: Myalgia and arthralgia
* otosclerosis (hearing loss)
* Premature rupture of membranes during pregnancy
* Platelet aggregation failure (platelets do not clump together properly)
* Infants with hypermobile joints often appear to have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking
* Arterial/intestinal/uterine fragility or rupture
Because it is often goes undiagnosed in childhood, some instances of Ehlers-Danlos syndrome have been mischaracterized as child abuse. The pain associated with this condition is a serious complication.
Mackenzie Mathis appreciates a lot these days.
A walk to the fridge is much easier than it was a year ago. Her performances at dance recitals could be described as a testimony.
Two years ago, Mathis began having nonstop headaches that couldn't be explained.A year later, her legs started to feel numb and she walked with short, slow steps.
Two surgeries later, Mathis now walks with a normal stride, drives and dances. She's taking a new approach to life.
"She's a bit of a miracle child," said her grandmother Pat Mathis. "A lot of prayers went up for her, and the Lord answered them."
Mathis, 19, was diagnosed with Ehlers-Danlos syndrome, a neurological condition, last December. She visited several doctors who couldn't explain the headaches or what caused her legs to give out. It was frustrating; at times, she felt as if people doubted what she complained of feeling.
"It was very difficult," Mathis said. "It was a lot of going to doctors who said, 'Maybe it's this,' and they'd do tests and my tests would come back normal. We could see how things were getting worse, but no one could do anything about it."
She visited family doctors, neurologists, ear, nose and throat doctors and a chiropractor. Mathis was told she might have had migraines, lupus or fibromyalgia.
"It was frustrating," said her mom, Lisa Mathis. "There was never an option to not follow up on what was going on."
Once Mackenzie had difficulty walking long periods of time and needed wheelchairs at the mall and the airport, the family started searching harder.
A family friend got Lisa Mathis in touch with a family whose children were diagnosed with Ehlers-Danlos. The symptoms that family's children experienced matched what Mackenzie was dealing with. Lisa Mathis said this helped get the family on the right track to find a diagnosis.
Ehlers-Danlos is a collection of genetic disorders that affect collagen, a protein that adds strength and elasticity to connective tissue. Patients often experience a downward pull of the spinal cord, which causes Chiari malformation.
According to Mackenzie's doctor, that's when the cerebellum, which controls balance, and the brainstem push downward. The pressure creates a range of problems, including the headaches and balance issues she experienced.
She underwent two surgeries that have returned her life to normal.
One surgery removed some of the ligament that pulled her spinal cord downward. The second surgery was a cranial spinal procedure, which improved the relationship between her skull base and her upper spine to eliminate the brain stem's deformation.
"Those two surgeries completely changed my life, and I can now do things I didn't think I would do again," Mackenzie said.
Lisa Mathis said her daughter's recovery was quick compared with some who have been diagnosed with Ehlers-Danlos.
"Her story is not typical of these patients, probably because we moved quick compared to others," said Lisa Mathis, who said it sometimes takes people 10 to 20 years to receive an Ehlers-Danlos diagnosis.
Mackenzie Mathis is helping other Ehlers-Danlos families. She's learned that about 50 families in North and South Carolina are dealing with the condition. In January, she'll host a support group for those families in Spartanburg. Her neurosurgeon is based in Bethesda, Md., and she serves as a spokeswoman for the hospital and answers questions from Ehlers-Danlos patients through e-mail and Facebook. She's also blogging about her recovery, and the blog has been read by people as far away as the United Kingdom.
Mathis spent a lot of time visiting doctors last year, so she's repeating her senior year at Oakbrook Preparatory School. Her effort to raise awareness about Ehlers-Danlos is part of her senior project.
"It's given me a purpose in life and has made me grow up to be thankful for everything," Mathis said.
Jenny Howard, her dance instructor at Oakbrook, said it was heart-breaking when Mathis was able to attend class last year.
"On the days that she could come to school, she would have to just sit and watch," Howard said.
Howard said seeing Mathis dance again is a miracle and gives her goose bumps.
"It's still kind of unreal," Howard said. "Nobody can believe it. It's almost like none of this happened."
Looking back, Mackenzie thinks some of the attributes that helped her with dance might have been signs of Ehlers-Danlos. Mathis, a dancer since second grade, does modern dance.
"I've always known I was hypermobile," said Mathis, who could twist her arms and pop joints. "I thought it was good for a neat trick and my dance."
Seeing her dance again is an emotional experience.
"That was the biggest blessing," Lisa Mathis said. "It was who she was. We didn't dare think she would dance again. We just wanted to get rid of her headache."
A walk to the fridge is much easier than it was a year ago. Her performances at dance recitals could be described as a testimony.
Two years ago, Mathis began having nonstop headaches that couldn't be explained.A year later, her legs started to feel numb and she walked with short, slow steps.
Two surgeries later, Mathis now walks with a normal stride, drives and dances. She's taking a new approach to life.
"She's a bit of a miracle child," said her grandmother Pat Mathis. "A lot of prayers went up for her, and the Lord answered them."
Mathis, 19, was diagnosed with Ehlers-Danlos syndrome, a neurological condition, last December. She visited several doctors who couldn't explain the headaches or what caused her legs to give out. It was frustrating; at times, she felt as if people doubted what she complained of feeling.
"It was very difficult," Mathis said. "It was a lot of going to doctors who said, 'Maybe it's this,' and they'd do tests and my tests would come back normal. We could see how things were getting worse, but no one could do anything about it."
She visited family doctors, neurologists, ear, nose and throat doctors and a chiropractor. Mathis was told she might have had migraines, lupus or fibromyalgia.
"It was frustrating," said her mom, Lisa Mathis. "There was never an option to not follow up on what was going on."
Once Mackenzie had difficulty walking long periods of time and needed wheelchairs at the mall and the airport, the family started searching harder.
A family friend got Lisa Mathis in touch with a family whose children were diagnosed with Ehlers-Danlos. The symptoms that family's children experienced matched what Mackenzie was dealing with. Lisa Mathis said this helped get the family on the right track to find a diagnosis.
Ehlers-Danlos is a collection of genetic disorders that affect collagen, a protein that adds strength and elasticity to connective tissue. Patients often experience a downward pull of the spinal cord, which causes Chiari malformation.
According to Mackenzie's doctor, that's when the cerebellum, which controls balance, and the brainstem push downward. The pressure creates a range of problems, including the headaches and balance issues she experienced.
She underwent two surgeries that have returned her life to normal.
One surgery removed some of the ligament that pulled her spinal cord downward. The second surgery was a cranial spinal procedure, which improved the relationship between her skull base and her upper spine to eliminate the brain stem's deformation.
"Those two surgeries completely changed my life, and I can now do things I didn't think I would do again," Mackenzie said.
Lisa Mathis said her daughter's recovery was quick compared with some who have been diagnosed with Ehlers-Danlos.
"Her story is not typical of these patients, probably because we moved quick compared to others," said Lisa Mathis, who said it sometimes takes people 10 to 20 years to receive an Ehlers-Danlos diagnosis.
Mackenzie Mathis is helping other Ehlers-Danlos families. She's learned that about 50 families in North and South Carolina are dealing with the condition. In January, she'll host a support group for those families in Spartanburg. Her neurosurgeon is based in Bethesda, Md., and she serves as a spokeswoman for the hospital and answers questions from Ehlers-Danlos patients through e-mail and Facebook. She's also blogging about her recovery, and the blog has been read by people as far away as the United Kingdom.
Mathis spent a lot of time visiting doctors last year, so she's repeating her senior year at Oakbrook Preparatory School. Her effort to raise awareness about Ehlers-Danlos is part of her senior project.
"It's given me a purpose in life and has made me grow up to be thankful for everything," Mathis said.
Jenny Howard, her dance instructor at Oakbrook, said it was heart-breaking when Mathis was able to attend class last year.
"On the days that she could come to school, she would have to just sit and watch," Howard said.
Howard said seeing Mathis dance again is a miracle and gives her goose bumps.
"It's still kind of unreal," Howard said. "Nobody can believe it. It's almost like none of this happened."
Looking back, Mackenzie thinks some of the attributes that helped her with dance might have been signs of Ehlers-Danlos. Mathis, a dancer since second grade, does modern dance.
"I've always known I was hypermobile," said Mathis, who could twist her arms and pop joints. "I thought it was good for a neat trick and my dance."
Seeing her dance again is an emotional experience.
"That was the biggest blessing," Lisa Mathis said. "It was who she was. We didn't dare think she would dance again. We just wanted to get rid of her headache."
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