The establishment of the Yale Bone Center in 1987 coincided with rapid advances in the ability to diagnose and treat acquired diseases of the skeleton such as osteoporosis, hyperparathyroidism, and Paget’s disease of bone. The Center initially offered a consultative service focused on these types of diseases, as well as on genetic disorders of skeletal structure and mineral content—a long-standing area of expertise at Yale.
Now in its 35th year, the Bone Center has expanded significantly since its inception. In 1996, the addition of The Bone Density and Body Composition Service helped improve the accuracy of diagnoses and supported an expanding clinical research program. In 2000, the Mineral Metabolism Laboratory was incorporated into the Center, offering cutting edge clinical and research analytics.
“Each one of these service lines is tasked with not only providing state-of-the-art clinical care, but also to help support the mission of furthering our understanding of these disorders and supporting studies to improve therapies for these patients,” says Karl Insogna, MD, FACP, Ensign Professor of Medicine (endocrinology) and director of the Bone Center. “In addition, they serve as vehicles for education.”
Insogna relishes the opportunity to support the career development of young investigators by providing them easy access to the bone densitometry, body composition, and mineral metabolism labs, which allows them to generate preliminary data. “Those capabilities are reflected in successful studies, not only by our faculty, but also by individuals who have used our services to develop their own independent careers,” he says.
A senior researcher involved in the Bone Center whose work has had an impact on the field is Clemens Bergwitz, MD, associate professor of medicine (endocrinology). Bergwitz is a world expert in hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a rare bone disorder characterized by symptoms including muscle weakness, short stature, skeletal deformities, and bone pain. He sees many patients with HHRH at the Center.
Bergwitz’s lab has worked on projects that test various therapies for hereditary endocrine disorders. He is recruiting patients with X-linked hypophosphatemia (XLH) and HHRH for a clinical study that will help researchers determine whether current standard-of-care with phosphate supplementation is safe for treating patients with these disorders, or whether the therapy has long-term consequences for cardiovascular, vascular and renal health.
Anika K. Anam, MD, assistant professor of medicine (endocrinology), recently co-authored an article with Insogna titled “Update on Osteoporosis Screening and Management,” in Medical Clinics of North America. The update focuses primarily on postmenopausal women with osteoporosis and emphasizes the importance of lifestyle measures such as healthy eating and exercise, as well as describing newer pharmacologic therapies. The need for a thorough search for secondary causes of osteoporosis in patients with severe bone loss was also underscored.
As part of her research interest in skeletal health following spinal cord injuries, Anam has brought a new and important technology to the Bone Density and Body Composition Service. One of the most frequent sites of fracture after spinal cord injury is the tibia. Anam is validating a novel research method that will allow her to directly quantify bone density in the tibia, which will assist in the management of these patients and enable clinical trials to better address the skeletal health challenges that these patients face.
Insogna collaborates with researchers from throughout Yale School of Medicine (YSM), as well. Evelyn Hsieh, MD, PhD, assistant professor of medicine (rheumatology and epidemiology), and chief of rheumatology at VA Connecticut Healthcare, has done extensive research on osteoporosis in patients who have underlying medical conditions that may predispose them to low bone mineral density, either from the disease itself or from the medications that they're on. Some of her early projects were conducted abroad in China and Peru, and looked at the role of medications and/or vitamin D on bone health in patients with HIV, rheumatoid arthritis and breast cancer.
“Karl has been an important mentor throughout all of [my research] in terms of providing guidance and training and how to think about designing the studies,” says Hsieh.
Hsieh is currently at work on a study that is examining the effects of COVID-19 hospitalization on musculoskeletal health in older patients, as a co-investigator of the VALIANT (COVID-19 in Older Adults: A Longitudinal Assessment) study led by investigators at the Program on Aging. VALIANT followed up with patients via telephone interviews at one month, three months, and six months after their hospitalization to see how they were doing in terms of their symptoms, their physical function, and any other functional deficits that they might have had. As part of the VALIANT MSK Substudy, Hsieh and colleagues are currently inviting study participants to come back for a DXA scan to measure bone density and body composition measures, as well as to answer a questionnaire, perform brief assessments of physical performance and muscle strength, and provide a blood sample.
“Our concern is that in patients who had COVID-19, the experience of hospitalization and illness may be having a disproportionate impact on musculoskeletal health,” says Hsieh. “And during the pandemic, people were so isolated and not necessarily able to access the physical therapy, rehabilitation, and social support that they might have otherwise. We’re trying to understand the impact of all of this on outcomes including falls, fractures, bone metabolism, osteoporosis and sarcopenia.”
Hsieh appreciates how the professionalism at the Bone Center has made the process go very smoothly. “The technicians are trained to ensure that DXA imaging is happening in a very standardized way and that the images are taken correctly. There's a lot of room for error if the images are not aligned right or the positioning is wrong.”
Endocrinology Section Chief John Wysolmerski, MD, noted several future plans for the Yale Bone Center. “The Yale Bone Center has a long history of excellence and there are several new initiatives in the pipeline to sustain and grow this wonderful clinical practice,” Wysolmerski said.
Karl has been an important mentor throughout all of [my research] in terms of providing guidance and training and how to think about designing the studies.
Evelyn Hsieh, MD, PhD
The Bone Center is collaborating with YSM faculty from Orthopaedics and Geriatrics to develop a Fracture Liaison Service. The multi-disciplinary program will be dedicated to preventing a second fracture in patients who suffer a low-impact fragility fracture by establishing a diagnosis of osteoporosis and instituting proper therapy to reduce subsequent fracture risk.
“We also, are hoping to recruit new clinical investigators interested in osteoporosis and metabolic bone disease to the section who will be able to provide our patients with access to cutting-edge therapies for bone disease,” Wysolmerski said. “Finally, we are hoping to expand our clinical practice throughout the Yale-New Haven Health System, making it easier for patients in Connecticut and beyond to access our clinical and research expertise. Osteoporosis and disorders of mineral metabolism affect the lives of many members of our community and we are committed to redoubling the ability of the YBC to relieve the burdens of these diseases.”
Yale’s Section of Endocrinology & Metabolism works to improve the health of individuals with endocrine and metabolic diseases by advancing scientific knowledge; applying new information to patient care; and training the next generation of physicians and scientists to become leaders in the field. To learn more about their work, visit Endocrinology & Metabolism.