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Many older people undergo routine screenings for hidden disease. The older people get, the more at risk they are for developing health conditions and the more likely they are to get tested for these conditions. Statistically, people start thinking about the risk for health conditions at age 36. What about younger people? Some people carry genetic tendencies toward certain diseases. These genetic tendencies may be detectible early on, even at ages as young as 1 or 2. A recent study on early detection of a genetic mutation of the familial hypercholesterolemia gene is a fitting example of how very early health evaluation can lead to early intervention.

Study Results

A study conducted by researchers at Queen Mary University in London looked at the presence of familial hypercholesterolemia in children and their parents. Children between the ages of 1 and 2 years were tested for cholesterol levels and for mutations in the FH48 gene at the time of their immunizations. A total of 10,095 children gave blood samples that were acceptable to test. Out of these children, 37 had a prevalence of a familial hypercholesterolemia. FH48 gene mutations are hereditary, so during the study, every time a child with FH48 gene mutations was identified, the child’s parents were contacted and tested for the mutation. This allowed the researchers to identify which parent carried the gene mutation. 

The number of children with the FH48 gene mutation identified in the study equaled a prevalence rate of 1 in 273. Prior studies reported a rate of 1 in 500, so the current study identified a rate nearly double that of previous studies. Researchers also pointed out that the type of screening used in the study was the first time a child-parent screening had been used effectively on a large scale. Researchers concluded that offering this health risk assessment to children at the time of their immunizations would effectively identify children and parents who carry the gene mutation and are thus at risk for early heart disease.

Early Detection of Hidden Disease

This study highlights the importance of early diagnostics. Familial hypercholesterolemia is a hidden disease, so parents are not likely to request screenings for the gene mutation unless they already know that it exists. However, people who carry the gene mutation have a 10-fold increased risk of having a heart attack before the age of 40. By using routine screenings to identify young children and their parents who carry genetic familial hypercholesterolemia, health practitioners can offer early intervention to both children and parents to help prevent early onset of heart disease. The earlier the risk is identified, the faster education, lifestyle changes, and other interventions can take place. This will result in disease prevention for both children and their parents. Other genetic health conditions might also be detected very early if this type of health tracking becomes routine for young children.

Early detection of hidden disease can also occur through self-assessment of health at home. Visit QuantiHealth at www.thequantihealth.com for more information on the concept of early diagnostics.

Tags: hidden disease, disease prevention, early detection, health evaluation, health risk assessment