Managing fertility in patients with cystinosis requires special attention
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For years, cystinosis — the rare, inherited and life-long condition caused by abnormal buildup of the amino acid cystine in the body — was considered a fatal pediatric disease.
While infants with cystinosis may seem healthy at birth, the progressive condition can lead to serious multiorgan damage and potential kidney failure within the first decade of life if diagnosis and treatment are delayed.
Today, with medical advancements, such as cysteamine therapy and kidney transplantation, patients with cystinosis are living well into adulthood. But with increased life expectancy comes more for us to understand about this disease, like symptoms that emerge in adolescence and adulthood affecting patients’ reproductive systems and fertility. Additionally, life decisions must be addressed that previously may not have been considerations for these patients.
To better understand the transformation of cystinosis into a chronic, progressive disease, a group of researchers recently set out to explore our current understanding of reproductive health as it relates to cystinosis. Our research marks the first comprehensive outline for physician best practices to support the monitoring and management of these patients, with findings that reinforce the importance of routine conversations between health care teams and families about reproductive and sexual health as they look toward the future.
Cystinosis and reproductive health
While cystinosis affects men and women, male fertility can be significantly impacted by the condition. Previously, it was believed that primary hypogonadism caused by testicular failure was the main cause of infertility in men living with the disease. However, the introduction of cysteamine therapy has revealed obstructive azoospermia, or a lack of sperm in the ejaculate, as its true cause. Our research demonstrates that although azoospermia typically starts in late adolescence, with proper management, testicular endocrine function can last into a patient’s 40s.
Although women living with cystinosis are usually fertile, decisions around contraceptive options, pregnancy support strategies and early infancy must be considered. Cysteamine therapy should be stopped as soon as pregnancy is confirmed to avoid potential fetal abnormalities and resumed as soon as possible after birth. With this, the decision to breastfeed should also be discussed with health care teams and not be limited by the need to restart cysteamine therapy. While there are limited data on the safety of cysteamine in breastfed infants, our findings suggest that cysteamine concentration in breastmilk is minimal, possibly allowing breastfeeding for women who want to return to cystine-depleting therapy after pregnancy. With all these considerations, regular counseling between health care teams and patients is crucial.
Care teams
For men and women living with cystinosis, fertility planning and counseling can ensure that any potential complications are accounted. And yet, historically, many centers have shied away from offering preservation options to minors due to provider discomfort, lack of access to reproductive specialists, as well as concerns about obtaining assent and consent. Further, questions around reproductive health are often overlooked due to the many other medical issues that patients face during early adolescence, such as the need for kidney transplant, bone, endocrine and growth issues, as well as neurocognitive problems that can impact school and life.
For many families, it is understandable that concerns about making it through the day will take precedence over issues that can occur down the road. As patients with cystinosis continue to survive well into adulthood, health care teams have an important role to play, adjusting traditional care roadmaps to connect the issues of today to those of tomorrow. Addressing this transition from adolescent to adult care is not simple – it requires a deft approach. However, our research has identified several key strategies that can lead care teams and patients to success.
Consistency. Nephrologists have historically served as PCPs for patients with cystinosis, responsible for ensuring a smooth transition of care from adolescence to adulthood. But the complexities of cystinosis can at times lead to disruptions as providers coordinate. It is imperative that transitions instead provide uninterrupted care that is appropriate for patients’ development stage, aiming to maximize their potential and function. This transition can be challenging for patients and their families. They may feel anxious due to changes in health care providers and care approaches, especially if they have received continuous care from trusted pediatric providers. Adult providers may also share this apprehension, as they are now caring for a rare condition traditionally considered a pediatric disease.
Sensitivity. Transitioning to adult care requires discussions of several important, yet sensitive issues including personal autonomy, as well as sexual and reproductive health. However, health care providers at times lack the training to manage these conversations, which can result in insufficient care. Our research indicates that adolescents and young adults with chronic illnesses have similar sexual health interests and concerns as their healthy peers. Nonetheless, these topics are not consistently discussed during routine visits for these patients, including those with cystinosis. This can lead to a gap in routine discussion of reproductive health and fertility.
Collaboration. While there are no specific guidelines for managing reproductive health in adolescents and young adults with cystinosis, cystinosis management emphasizes early counseling from a range of specialists such as fertility experts, endocrinologists, obstetrician-gynecologists and urologists. This collaborative, team-based approach from multidisciplinary specialists has been found to be ideal for holistic management of cystinosis, covering topics such as reproductive health, genetic counseling, fertility status and preservation, contraception and pregnancy. By starting with a pediatric team and continuing into adult care with nephrologists at the helm, patients will have the full range of resources they need to make informed decisions in a timely manner.
Renewed hope
As our understanding of cystinosis continues to evolve, patients, their families and caregivers are also looking to discover new futures beyond their diagnosis. With multidisciplinary care team involvement, tailored management and routine counseling of patients and their families on these essential topics, providers have a renewed opportunity to offer their support.
Ultimately, through candid and proactive conversations that run through the lifespan of care, fertility preservation can be readily achieved in most patients and should be considered for anyone at risk of losing their reproductive potential. It is our hope that this research can provide a new outlook for all those within the cystinosis community. By arming patients and their families with the information they need, we can empower them to take control of their health decisions and plan for the future.
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- For more information:
- Craig B. Langman, MD, is the Isaac A. Abt, MD, Professor of Kidney Diseases, emeritus and tenured professor of pediatrics at the Feinberg School of Medicine, Northwestern University, and director of two Davita Children’s Dialysis Centers in Chicago. He can be reached at c-langman@northwestern.edu.
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