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.