IIH Genetic Study at Ohio State University

While no genetic basis has yet been established to explain idiopathic intracranial hypertension (IIH), there is reason to believe genetic factors may play a significant role. There are clues including the fact that overweight or obese women who have IIH make up a very small percentage of the total number of overweight or obese women in the general population. A possible high incidence of uterine/menstrual dysfunction and polycystic ovarian syndrome (PCOS) and possibly a higher prevalence of genetic thrombophilia in this population are also potentially significant.

In conjunction with the IH Registry, a genetics research team from Ohio State University in Columbus, Ohio is seeking to identify and determine how genes may code for IIH. The IH Registry will help to identify and refer qualified, confirmed IIH patients, who are interested in participating in the genetic study. A minimum of 12 families with two or more blood-related family members with documented IIH (with history out to four generations) are required for the study. 

Once a family is identified, the first step is to confirm the IIH diagnosis by having the affected family members enroll in the IH Registry. To confirm the diagnosis, the IH Registry directly obtains extensive medical information from copies of medical records, including lab and imaging studies, as well as physician questionnaires. The IH Registry adheres to the standard Modified Dandy Criteria for confirmation of IIH. Once confirmed, interested patients are referred to the Ohio State team where a request for a blood sample and a detail family tree are required for study entry.

If you are interested in learning more about the IIH genetic study or know of families, who meet the study requirement of two or more members with IIH, please contact the IH Registry at 503.418.2141 or by email at ihreg@ohsu.edu.