What are the other Names for this Condition? (Also known as/Synonyms)

• Arthrochalasia Type EDS
• Arthrochalasis Multiplex Congenital
• Ehlers-Danlos Arthrochalasia Type (VIIA-B)

What is Ehlers-Danlos Syndrome, Arthrochalasia Type? (Definition/Background Information)

• Ehlers-Danlos Syndrome, Arthrochalasia Type, is an extremely rare, inherited disorder caused by abnormalities in collagen formation. Collagen is the most abundant protein in the human body. It plays an important role in connective tissue function
  • Connective tissue is made up of structural proteins known as collagens and fibroblast cells, which are arranged in rows
  • These tissues connect bone-bone and muscle-bone, and give strength, support, and elasticity to various structures of the body, like skin, joints, and walls of blood vessels
  • There are 3 types of connective tissue, namely, tendons, ligaments and cartilages
• EDS, Arthrochalasia Type is caused by mutations in COL1A1 or COL1A2 gene. These genes code for precursors of type 1 collagen. A mutation in either gene can cause structural abnormalities in type 1 collagen, leading to the development of this disorder
• Since the disorder is hereditary in nature, a family history of Ehlers-Danlos Syndrome, Arthrochalasia Type is a major risk factor for being diagnosed with it. The genetic mutation causing this EDS type is inherited in an autosomal dominant pattern
• The signs and symptoms of the disorder include severe hip dislocation at birth, low muscle tone, elastic skin, kyphoscoliosis (forward as well as sideways spine curvature) and short stature. The rupture of major blood vessels, premature arthritis, and damage to internal organs are some potential complications of Arthrochalasia Type EDS
• The diagnosis is made by conducting a variety of exams including a physical examination, symptom assessment, evaluation of family medical history, imaging studies, collagen typing, and molecular genetic testing to ascertain gene mutations
• The treatment options for Ehlers-Danlos Syndrome, Arthrochalasia Type involve medications for pain and blood pressure, physical therapy, and surgery to correct abnormal spine curvatures and bone dislocations
• The prognosis is determined by the severity of the symptoms. Owing to repeated dislocations in several joints, as well as due to muscular weakness, the quality of the affected individual’s life can be severely hampered
• Since the disease is caused by inherited gene mutations, currently it is not possible to prevent Ehlers-Danlos Syndrome, Arthrochalasia Type. However, if there is a positive family history of the disorder, then prospective parents may benefit from testing for gene mutations and genetic counseling

Who gets Ehlers-Danlos Syndrome, Arthrochalasia Type? (Age and Sex Distribution)

• Ehlers-Danlos Syndrome, Arthrochalasia Type is a very rare disorder. Thus far, only about 30 cases have been reported in the scientific literature
• A manifestation of the disorder may begin at birth, and the condition continues to progress/develop over time
• There is no gender, ethnic, or racial bias in the occurrence of this disorder

What are the Risk Factors for Ehlers-Danlos Syndrome, Arthrochalasia Type? (Predisposing Factors)

Ehlers-Danlos Syndrome, Arthrochalasia Type is an inherited disorder with the following risk factors:

• A family history of the disorder
• Having parents, who are close blood relatives (such as first cousins)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ehlers-Danlos Syndrome, Arthrochalasia Type? (Etiology)

Ehlers-Danlos Syndrome, Arthrochalasia Type is caused by mutation(s) in the COL1A1 or COL1A2 genes.

• These genes code for type 1 collagen, which is found in abundance in the human body. The COL1A1 and COL1A2 genes code for pro-alpha1 and pro-alpha2 chains of collagen 1
• The two alpha1 and 1 alpha2 chains combine to form the collagen 1, which matures by an enzymatic process
• The mature collagen 1 is arranged in orderly strands and interact with other proteins to render the collagen matrix strong and flexible
• When either gene is mutated, the structure of collagen 1 molecules is disturbed. This weakens the tissues where collagen 1 is present, and leads to symptoms of the disorder

COL1A1 and COL1A2 mutations are inherited in an autosomal dominant manner. In this type of inheritance, a single copy of a defective gene in every cell of an individual is sufficient to cause the condition. Typically, one inherits Arthrochalasia Type EDS from an affected parent.

What are the Signs and Symptoms of Ehlers-Danlos Syndrome, Arthrochalasia Type?

The type and severity of Ehlers-Danlos Syndrome, Arthrochalasia Type symptoms may vary among the affected individuals. The symptoms may overlap with other types of EDS, such as ‘hypermobility’ and ‘kyphoscoliosis’, and may include:

• Hip dislocation at birth
• Kyphoscoliosis (spine curvature in two planes)
• Reduced bone mass
• Low muscle tone
• Weakness of muscles
• Presence of loose, elastic skin; abnormally-thin skin
• A tendency to bruise easily 
• “Cigarette paper” scars i.e., scarring of skin owing to abnormal healing of wounds
• Degeneration and parchment-like (papyraceous) scarring of skin
• Loose joints (laxity of joints); overly-flexible joints i.e., a range of joint movement beyond what is normally observed
• Joint pain; vulnerability to joint dislocations
• A tendency to develop early-onset osteoarthritis
• Thin, fragile blood vessels, may predispose an individual to hemorrhages
• Fragile internal organs and other tissues
• Characteristic facial features such as:
  • Small, undersized jaw
  • Widely spaced eyes
  • Epicanthal folds
  • Large anterior fontanelle (soft spot on the skull in the front, in an infant)
• Short stature

How is Ehlers-Danlos Syndrome, Arthrochalasia Type Diagnosed?

The diagnosis of Ehlers-Danlos Syndrome, Arthrochalasia Type is undertaken with the help of the following tests and exams:

• A thorough physical examination and an assessment of symptoms
• An evaluation of personal and family medical history
• Measurement of skin hyperextensibilty, by pulling up skin, till resistance is registered
• Beighton scale hypermobility testing for joints: This operates on a 9-point system; a score of over 6 may indicate hypermobility
• Collagen typing using a skin biopsy sample
• Collagen skin mutation testing
• Electron microscopic observation of a skin sample
• Imaging tests such as X-ray, computed tomography (CT) scanning, or magnetic resonance imaging (MRI):
  • To visualize bone deformities such as scoliosis and loss of bone mass
  • For structural abnormalities of the heart, along with echocardiography
• Genetic testing to confirm mutations in genes that cause EDS

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Ehlers-Danlos Syndrome, Arthrochalasia Type?

The following are some potential complications in individuals with Ehlers-Danlos Syndrome, Arthrochalasia Type:

• Progressive worsening of kyphoscoliosis
• Bruising of skin (often at the same locations) and permanent scarring
• Repeated joint dislocations; several joint dislocations at the same time
• Delayed wound healing
• Spontaneous rupture of blood vessels
• Progressive loss of motor function owing to muscle weakness
• Speech impairment

How is Ehlers-Danlos Syndrome, Arthrochalasia Type Treated?

The treatment for Ehlers-Danlos Syndrome, Arthrochalasia Type is symptomatic, since there is no cure for this disorder. The following are some measures for treating the symptoms of Arthrochalasia Type EDS:

• Medications for pain relief: The strength of medication administered depends on the severity of pain
• Medications, to reduce blood pressure (necessitated by fragile blood vessels), such as the following:
  • Beta blockers
  • Angiotensin-converting enzyme inhibitors
  • Calcium channel blockers
  • Diuretic pills
• Proper and balanced nutrition
• Vitamin C supplements may be recommended to aid in collagen synthesis and wound healing
• Physiotherapy to strengthen muscles around weak joints
• Braces to stabilize joints and minimize dislocations
• Surgery, to repair severe kyphoscoliosis or joints damaged by repeated dislocations are undertaken, if necessary

How can Ehlers-Danlos Syndrome, Arthrochalasia Type be Prevented?

Ehlers-Danlos Syndrome, Arthrochalasia Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• In individuals who are diagnosed with Arthrochalasia Type EDS, the following may be helpful in reducing injuries, dislocations, and bleeding:
  • Avoiding contact sports and other activities that may cause injury
  • Wearing padding over joints that are vulnerable to dislocation
  • Avoiding unnecessary surgical procedures, since wound healing may be compromised
  • If surgery becomes necessary, then taking precautions against bleeding before, during and after surgery
  • Proper counseling and medical care for women before and during pregnancy, as well as during and after childbirth 
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Ehlers-Danlos Syndrome, Arthrochalasia Type

Regular medical screening at periodic intervals with tests and physical examinations are crucial and are highly recommended.

What is the Prognosis of Ehlers-Danlos Syndrome, Arthrochalasia Type? (Outcomes/Resolutions)

• The prognosis of Ehlers-Danlos Syndrome, Arthrochalasia Type is dependent on the type and severity of symptoms, as well as on the complications that may develop
• If multiple joint dislocations occur along with muscle weakness, the quality of life of the affected individual may be severely affected

Additional and Relevant Useful Information for Ehlers-Danlos Syndrome, Arthrochalasia Type:

Please visit our Congenital & Genetic Disorders Health Center for more physician-approved health information:

http://www.dovemed.com/diseases-conditions/congenital-genetic-disorders/