Study Examines FD/MAS and Quality of Life (QOL)
Quality of life (QOL)—we all seek it. For patients with fibrous dysplasia and McCune-Albright syndrome (FD/MAS), a life free of pain, anxiety, and depression is often overlooked in the task of day-to-day living.
Researcher Amanda Konradi, Ph.D., Associate Professor at Loyola University, Baltimore, Maryland, published three separate studies in 2021 related to QOL. All three studies used the FD/MAS Patient Registry (Patient Registry), established by the FD/MAS Alliance in 2016. The FD/MAS Patient Registry is an IRB-approved research study that invites the patients and families to help answer some of the biggest questions about FD/MAS by completing questionnaires about their lives with FD/ MAS.
Dr. Konradi used de-identified data from the Patient Registry to assess aspects of QOL in adults and children with FD/MAS.
Importance of these Studies:
When asked why she studies QOL issues, Dr. Konradi said “It is important to keep in mind that the severity of disease from a medical standpoint may not capture the lived experience of a condition. Quality of life measures document how much disease compromises physical functioning, a person’s ability to participate in social life, school, or employment, affects moods and mental functioning, etc. They draw our attention to issues that may not be part of the immediate focus of doctors and parents and standard medical protocols and invite us to ask patients, even very young ones, what they feel they need to live their best life on a day-to-day basis.”
The results of these studies—one featuring adults and two with data on children—all found lower QOL among patients with FD/MAS compared to general populations, demonstrating the psychosocial aspects of a disease associated with both pain and skeletal distortion; and, pain and debilitating bone growths. Dr. Konradi notes that, “clinical levels of anxiety are not uncommon in adolescents with FD. This is of particular concern because studies of adolescents have found that anxiety is associated with the future development of depression.” A call for enhanced clinical treatment of patients with FD/MAS that includes assessment for QOL issues and access to psychosocial resources is a critical outcome of this research.
Because the physical and clinical aspects of FD/MAS are so complex, it is easy to overlook a patient’s basic physical and psychological health. By adding QOL considerations into individual health checks, possible mitigation efforts can be explored with patients, friends, and family, and brought to the attention of all health care providers.
STUDY DETAILS AND OUTCOMES
Dr. Konradi published Fibrous dysplasia patients with and without craniofacial involvement report reduced quality of life inclusive of stigma, depression, and anxiety in Chronic Illness in November 2021. The analysis used data from the Patient Registry for 197 adults (ages 18-69) to determine if QOL differs from the general population and according to disease severity and lesion location. In particular, the study examined whether patients with isolated craniofacial FD (CFD) demonstrated a better QOL level that would be considered unique in the spectrum of FD/MAS patients.
Analysis was done by using validated measures, surveys and screening questionnaires that have been tested to ensure reliable and accurate results, all found in the Registry. These validated QOL measures allow researchers to study the experience of those living with FD/MAS in a scientifically rigorous way., The measures included the SF-36, Hospital Anxiety and Depression scale (HADS), Neuro-Quality of Life Stigma scale, and the Brief Pain Inventory. The study population included 117 individuals with CFD or CFD+ polyostotic FD/MAS and 80 with trunk and axial involvement.
This study demonstrated greater stigma and other low QOL markers among the entire study group when compared to a population of individuals with more common neurological conditions. In addition, a measurable number of participants qualified as having treatable levels of anxiety and depression. As with all of the studies discussed here, these results underscore the need for psychosocial screening and referrals to support groups and patient organizations as a component of health care.
Patients with CFD may have facial asymmetry or dental impairments which are more readily visible to others. Dr. Konradi hypothesized that these patients might be a unique group within the QOL measurements for the overall FD/MAS study group. The analysis did not support this theory, possibly because issues in the skull do not impact normal movement and attract less attention and negative reactions.
Pediatric Study – QOL
Most people agree that living with a high QOL of life is important, but for children with FD/MAS their physical and mental state is seldom measured. In 2021, The Journal of Patient-Reported Outcomes published Assessing quality of life in pediatric fibrous dysplasia and McCune Albright syndrome: PEDS-QL and HADS data from the Fibrous Dysplasia Foundation Patient Registry. Sample means and score distributions were analyzed compared to the general population and chronic disease benchmarks. The study—a retrospective analysis of 39 patients ages 2-17—demonstrated that QOL issues are an important measurable aspect of care for minors.
Fifty percent of all children in the study experienced extensive physical or social impairment and reduced quality of life according to at least one measurement. The most prominent result was that older children were at risk, with half of the age 13-17 group meeting the clinical benchmark for anxiety.
Comparisons to other chronic diseases such as rheumatoid arthritis and asthma suggest that pediatric FD/MAS patients may experience an even more compromised QOL. This highlights the need for future studies to examine the qualities of the patient experience that bring dysfunction and distress.
Pediatric Study – Stigma
Stigma is a component of the illness experience shared by many patients with chronic conditions who are navigating both the physical manifestation of a disease and subsequent emotional ramifications. In 2021, BMC Pediatrics published Stigma and psychological distress among pediatric participants in the FD/MAS Alliance Patient Registry, which “establishes the illness experience of pediatric patients with FD/MAS is impacted by stigma and suggests they should be regularly screened for stigma and psychological stress.”
Using the de-identified data of 18 pediatric patients, this cross-sectional analysis determined levels of enacted and self-stigma and explored the relationship between stigma, anxiety, and depression. Results found that pediatric patients with FD/MAS experience stigma at levels comparable to children with other chronic and stigmatizing diseases. Not surprisingly, these patients also had significant measures of anxiety and depression. Stigma related to the illness was reported by 80% of the study participants with FD.
One interesting result was that responses showed a greater level of self-stigma than stigma actively imposed by others (ridicule, etc.). Pediatric patients with FD, with less obvious disruptive issues, may anticipate rejection before it occurs. The study explains that “Children may associate greater physical involvement with FD with greater deviation from “normal; although their physical variability may not be readily apparent to others.”
This study suggests several steps to enhance patient QOL:
- Aggressive referrals of patients and families to support groups and patient organizations to learn coping and appropriate interaction strategies.
- Delivery of online service to enhance participation for all patients and families regardless of geographic distance.
- Consistent use of positive—not demeaning—language, is especially important for medical providers who have the ability to emphasize ability rather than deficits.
- Screening for stigma in the structure of pediatric care.
The FD/MAS Alliance website has additional information for both patients and caregivers, and researchers and clinicians. To keep up-to-date on new medical and research advances, go to our homepage and join our mailing list and learning more about the FD/MAS Patient Registry.
Special thanks to Caroline Fuchs, CAE for this review.