Stroke is one of the leading causes of death in people over 55 with many cases of stroke due to the effects of aging; however, young people do not normally possess risk factors such as atherosclerosis (vessel plaque build-up) or high blood pressure putting this population at a lower risk. Incidence of stroke in children and young adults raises the question of what other factors, such as genetics, may be contributing to young strokes.
Genetic Testing
For patients who have a family history of young stroke, genetic testing is recommended to see if they possess a condition that should be closely monitored.
The clearest evidence that genetic factors may be involved in the pathophysiology of stroke in these young people arises from monogenic forms of the disease, where a single gene leads to dysfunction, increasing the risk and recurrence of ischemic or hemorrhagic strokes. These single-gene disorders lead to problems including but not limited to lipid, blood clotting, or vessel dysfunction. Often, individuals do not find out they have a monogenic disease until after an event such as a stroke. Learning about one’s disease state is critical for proper health management and minimizing the risk of future events.
Have you considered seeking the genetics of your condition?
Genetic Counseling
Genetic counseling is a process to evaluate and understand a family’s risk for an inherited medical condition and provides information and support to people who have, or may be at risk for, genetic disorders. A genetic counselor is a healthcare professional with specialized training in medical genetics and counseling.
There are many reasons that people go for genetic counseling, such as:
- If there is a family history of a genetic condition;
- To learn about genetic screening for diseases that are more common in certain ethnic groups (e.g., sickle cell disease in African Americans);
- To discuss abnormal results from tests during pregnancy;
- If a woman has had several miscarriages or infant deaths;
- If a genetic condition or birth defect occurred in a previous pregnancy;
- If a child has birth defects, disabilities, or conditions found by newborn screening;
- To find out if there is a genetic cause for developmental delays or health problems.
Healthcare providers can help their patients find a genetic counselor or clinical geneticist in their area. The nearest medical school or university medical center will usually have information about finding a genetic professional. These websites may help you locate a board-certified genetic specialist nearby:
Exome Sequencing
Exome sequencing can be helpful for people who don’t yet have a diagnosis.
The “exome” is the component of the genome that predominantly encodes protein. The exome comprises about 1% of the genome and is, so far, the component most likely to include interpretable mutations that result in clinical phenotypes (signs of the disease expressed in people). Whole exome sequencing involves determining the DNA sequence of most of these protein-encoding exons. The goal of this approach is to identify genetic variants that alter protein sequences. It is possible that some clinically significant mutations may be missed by this approach due to inefficient capture of certain exons, but this is the best way at present to identify known-mutation causing diseases.