What Everyone With A Chiari 1 Malformation Diagnosis Needs To Know About Connective Tissue Disorders

If you've recently been given a diagnosis of Chiari 1 malformation, you may feel somewhat of a relief in finally finding the cause of your intense headaches. More than likely, however, the diagnosis has opened up a lot of questions you may find difficulty in finding answers to as you learn about the co-morbid conditions that tend to go along with Chiari 1 malformation. Here's what you need to know.

Chiari 1 malformation is believed to be genetic

Researchers have discovered that there tends to be a familial aggregation of Chiari. Therefore, the medical community believes it can be genetic in nature. Unfortunately, there have been no genetic tests developed, nor has a specific gene been found to be the culprit. At least in humans.

Veterinarians have, however, discovered that Chiari malformation and it's often co-morbid condition syringomyelia are inheritable in the King Charles cavalier spaniel, which also leads researchers to believe it is inheritable in humans. The good news is that research is ongoing. You can assist in the research by submitting your DNA for studies at a place like Affordable DNA USA. Your neurosurgeon or neurologist will know where studies are being conducted.

Risk of hereditary connective tissue disorders

According to research, 12.7% of cases of Chiari 1 malformation in a study met the diagnostic criteria for a group of connective tissue disorders known as Ehlers-Danlos syndromes (EDS). In this particular connective tissue disorder, the collagen in the body does not function properly. Normally, collagen acts as glue and holds the cells in place. Even though Chiari and EDS seemed to be unrelated previously, this finding suggests that there is a correlation between them.

Ehlers-Danlos has 13 subtypes, all but one of which can be identified through genetic testing. The other one can be determined through a clinical evaluation. With your diagnosis of Chiari, it's important that you get tested to see if you have a connective tissue disorder. Your DNA will be collected for testing, which is generally done by a geneticist. This is crucial because some of the subtypes of EDS can be deadly, particularly vascular EDS and cardiac-valvular EDS, both of which can be life-threatening.

Given that Chiari is believed to be genetic and that EDS has been proven to be genetic, it's a good idea to have your children tested as well, especially since most people with these conditions are asymptomatic until they are adults. Request brain and spine MRIs to test for Chiari as well as genetic testing and a clinical evaluation to test for EDS.