Several years ago, at the Chromosome 18 Registry & Research Society's Annual Conference, a parent of someone with tetrasomy 18p shared some important information. Several young adults had been diagnosed with osteoporosis. This conversation led the researchers at the Chromosome 18 Clinical Research Center to do some further investigation and data collection
We used several different ways to learn about the bone health of children and adults with tetrasomy 18p. We surveyed the families who are study participants about their history of fractures as well as any medications they were taking. We collected medical records to document the results of bone scans and laboratory tests. The results confirmed the concerns that the parents shared during the conference. We found that 67% (or 14 of 21 of the study participants) had at least one fracture. Moreover, seven had had three or more fractures. The results of the bone scans also suggested that this population has a decreased bone mineral density (BMD). This means that the bones may be weaker than normal, which increases the risk for fractures. Lastly, the lab results suggested that some had decreased vitamin D levels. Vitamin D is important for bone health.
Taken together, these results suggest that people with tetrasomy 18p have high chance of having low BMD, and therefore have a higher likelihood to have fractures. That risk may be increased even further by other factors, such as certain medications, decreased physical activity, or other genetic influences. These findings were published in a major medical journal in November 2018.
Now that we now know that children and adults with tetrasomy 18p have an increased risk for low bone mineral density, we suggest families discuss this with their physician. Their physicians may order some additional testing to assess bone health. They may also make some specific recommendations to improve bone health and reduce the likelihood of fractures. These recommendations may include calcium and vitamin D supplementation or taking additional medication.
It is important to remember that this information is now available because parents brought up their concerns at a family conference. This story also highlights the benefits that families may get from participating in the research study. Our first conversations about bone health in people with tetrasomy 18p happened in 2015. As we began to collect data and ask targeted questions about bone health, study participants were alerted to the potential association between tetrasomy 18p and low BMD. The study prompted them to speak with their physicians about this complication and to consider appropriate testing and management long before the data were published. Being a study participant gave these families the chance to learn about potential complications early. It also allowed them to contribute in a meaningful way to the knowledge base about tetrasomy 18p. If you are not already a study participant, we strongly encourage you to become one!
