New resources and events help guide meaningful conversations about the hereditary nature of XLH
Emily, Person Living with XLH
Nancy S. Dunbar, MD, MPH
X-linked hypophosphatemia (XLH) is a hereditary condition that can look very different even between two family members. That means that talking about the condition both with physicians and family members can be an important way to help loved ones proactively manage their health. In the Conversations in XLH: An Expert’s Perspective series, Nancy Dunbar, MD, MPH, shares her perspective on XLH and the importance of sharing conversations about the disease with loved ones.In this episode, Dr. Dunbar will dig into the basics of XLH and its symptoms, as well as share the value of better understanding family history and discussing XLH with loved ones. Nancy Dunbar, MD, MPH is a speaker for Kyowa Kirin. She received compensation for this engagement from Kyowa Kirin.
Connie and Emily share their stories of being diagnosed with X-linked hypophosphatemia (XLH), a rare condition that often runs in families yet affects each person differently. Watch how they uncovered the hereditary nature of XLH in their families.Connie and Emily are speakers for Kyowa Kirin. They received compensation for this engagement from Kyowa Kirin.
PRINCETON, N.J., Aug. 12, 2026 (GLOBE NEWSWIRE) — Kyowa Kirin, Inc., a wholly owned subsidiary of Kyowa Kirin Co. Ltd., today announced the launch of the XLH Family Outreach Initiative, a program to support people living with X-linked hypophosphatemia (XLH) and their families by encouraging meaningful family conversations about this rare, hereditary, genetic condition.
The XLH Family Outreach Initiative helps people understand how the condition may impact their families and empowers them to openly discuss their experience. Resources include tools to guide informed conversations among family members, uncover inheritance patterns across generations, and encourage those with symptoms to seek appropriate care. These resources can be found in a new XLH Inheritance Resource Center on www.XLHLink.com/how-xlh-is-inherited/, a website dedicated to providing the XLH community with education, empowerment, and connection.
“After my daughter was diagnosed with XLH, I learned that this condition could be inherited and was later diagnosed myself at the age of 33,” said Emily, living with XLH and a paid Ambassador for Kyowa Kirin. “As I shared what I learned with my family, several relatives who had similar symptoms spoke with their healthcare providers and discovered they were living with XLH as well. This experience helped many people in my family get the care they needed.”
XLH impacts the bones and muscles in both adults and children, causing symptoms such as skeletal abnormalities, stiffness, pain, dental problems, and impaired physical function.1 XLH often occurs across multiple generations within a family.1 As XLH is a lifelong, progressive disorder, early and accurate diagnosis is critical to managing symptoms like bone and dental health.2,3 However, the path to diagnosis for XLH can be challenging because its symptoms overlap with other conditions, it is often misperceived as a childhood condition (rickets), and physicians may be unfamiliar with this rare disease.1,4,5 Many people who may be affected by XLH remain undiagnosed in adulthood.6
“By identifying how XLH runs through the family, people can support their loved ones as they seek appropriate care and learn more about it from their healthcare professional,” said Nancy S. Dunbar, MD, MPH, Pediatric Endocrinologist and Director of the Bone and Mineral Disorders Program at Connecticut Children’s Hospital, and paid Consultant/Speaker for Kyowa Kirin. “These family discussions matter because they can lead to earlier detection and management of XLH, thus empowering people with the condition to make proactive decisions about their health.”
New XLH Family Outreach Initiative tools include:
- XLH Family Tree: A digital, interactive tool that helps families build a personalized family tree and see inheritance patterns across generations.
- XLH Conversation Cards: A conversation tool designed to help initiate supportive, informed conversations with family members about symptoms, inheritance, and the importance of seeking further information.
- XLH Family Inheritance Guide: A resource that explains XLH inheritance patterns and symptoms.
- Conversations in XLH Video Series: XLH experts and individuals with XLH explain the condition and share their approaches to meaningful conversations about XLH.
“For many families, understanding XLH can feel overwhelming, especially when symptoms appear across generations,” said Richard Wilson, Rare Disease Franchise Head, Kyowa Kirin, Co., Ltd. “We developed the XLH Family Outreach Initiative to offer reassurance, clarity, and practical support, helping individuals recognize the potential signs of XLH and feel confident guiding loved ones toward care. We believe that informed families are better equipped to advocate for their health.”
About X-linked Hypophosphatemia
X-linked hypophosphatemia (XLH) is a rare, lifelong, genetic disease that can impact the bones and muscles in both children and adults.3 In individuals with XLH, the body does not hold on to enough phosphorus, which is an essential mineral for bone health.1 This is due to the production of excess fibroblast growth factor 23 (FGF23), causing the body to release too much phosphorus through the urine.3 When phosphorus levels are too low (hypophosphatemia), it can cause the softening and weakening of growing bone in children (rickets) and of mature bone in children and adults (osteomalacia).3
In children, XLH typically appears as bowed legs or knock knees. Over time, bone weakening can lead to impaired growth and short stature.3 In adults, XLH may cause osteomalacia, fractures, and pseudo-fractures.3
XLH is most often inherited, meaning it is passed from a parent to a child.1 In some cases, XLH results from a new genetic change that occurs spontaneously.1 Whether XLH is inherited or occurs spontaneously, a person living with XLH can pass the genetic change on to their children.1
About Kyowa Kirin
Kyowa Kirin aims to discover and deliver novel medicines and treatments with life-changing value. As a Japan-based Global Specialty Pharmaceutical Company, we have invested in drug discovery and biotechnology innovation for more than 70 years and are currently working to engineer the next generation of antibodies and cell and gene therapies with the potential to help patients with high unmet medical needs, such as bone and mineral, intractable hematological diseases/hemato-oncology, and rare diseases. A shared commitment to our values, to sustainable growth, and to making people smile unites us across the globe. You can learn more about the business of Kyowa Kirin at www.kyowakirin.com.
References
1X-linked hypophosphatemia (XLH). Endocrine Society. https://www.endocrine.org/patient-engagement/endocrine-library/x-linked-hypophosphatemia.%20, January 24, 2022.
2Rothenbuhler, A., et al. Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH). Metab Clin Exp. 2020;103S:153892. doi: 10.1016/j.metabol.2019.03.009.nbh.
3Dahir, K., et al. X-linked hypophosphatemia: a new era in management. J Endocr Soc. 2020;4(12):bvaa151. doi: 10.1210/jendso/bvaa151.
4Carpenter, T.O., et al. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. doi: 10.1002/jbmr.340.
5Data report from 2024 XLH Community Impact Survey and Interviews. Kyowa Kirin, Inc. and The XLH Network. August 2024.
6Giannini, S., et al. Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review. Osteoporos Int. 2021 Oct;32(10):1937-1949. doi: 10.1007/s00198-021-05997-1.
Photos accompanying this announcement are available at
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CONTACT: CONTACT: Susan Thiele Head of Therapeutic Communications, North America [email protected]
