Lyndsay Harshman, MD, MS, associate professor of pediatrics-nephrology, dialysis, and transplantation, is leading research at the University of Iowa to identify potentially fatal gaps in care as people diagnosed with tuberous sclerosis complex (TSC) in childhood become adults. This potentially lifesaving research could particularly impact the 40,000 American women living with TSC.
Our work will allow us to establish the real-world patterns of renal (kidney) and pulmonary (lung) imaging in the TSC population. This is critical because in the absence of imaging it is impossible to identify and treat TSC-associated conditions early enough to prevent hospitalization and premature death.
The rare, multi-system genetic disease involves fatty, vascular tumors that can cause life-threatening bleeding. CT and MRI scans can detect TSC tumors before they become dangerous, but Harshman’s earlier research suggests women may not be receiving those scans as recommended. This is especially important, she says, because women with TSC are likely at highest risk for catastrophic medical events caused by the disease.
“Our hypothesis is that pregnant women are at highest risk for adverse health consequences due to their TSC diagnosis; however, it is possible that the risk for kidney-related issues is underestimated for the entire TSC population,” Harshman says.
The new study will be funded by a nearly $500,000 research grant from the U.S. Department of Defense. Harshman is primary investigator on the grant along with UI co-investigators Amber Goedken, PharmD, PhD, associate professor of pharmacy practice and science, and Knute Carter, PhD, clinical associate professor of biostatistics.
“We are thrilled to have been awarded this funding,” says Harshman. “Our work will allow us to establish the real-world patterns of renal (kidney) and pulmonary (lung) imaging in the TSC population. This is critical because in the absence of imaging it is impossible to identify and treat TSC-associated conditions early enough to prevent hospitalization and premature death.”
The UI research team will analyze two large national databases cross-referenced with medical codes to determine:
- How often people with TSC are getting preventive screening, and if men and women are screened at different rates
- If age or biological sex changes how frequently a patient should be scanned to prevent fatal complications, and how often people are being treated for TSC-related medical conditions
- If pre-pregnancy imaging predicts morbidity for women with TSC who give birth
Ultimately, the team’s findings could change imaging recommendations, as well as lead to greater provider and patient awareness and education about appropriate TSC care. For example, it may help establish standard prenatal and perinatal care guidelines for women with TSC. This study will also provide a foundation for future research into differences in disease complications between males and females of all ages, and a better understanding of the health care needs of females with TSC.
UI Health Care Stead Family Children’s Hospital is a regional leader in TSC treatment and home to the only TSC clinic in Iowa, which is a TSC Center of Excellence.