Caring for patients with XLH requires a multidisciplinary approach

Patients with a confirmed or suspected diagnosis of XLH may require an individualized program of care

A comprehensive team of health practitioners and specialists that can provide care and disease education is vital and may include:

Endocrinologist
Nephrologist
General practitioner
Pediatrician

Occupational and physical therapists
Orthopedic surgeon
Rheumatologist

Geneticist
Pain specialist
Genetic counselor

Early disease management can be favorable.^1,2 Skeletal, muscular, and dental abnormalities can be improved but do not completely resolve.²

Treatment may help improve the symptoms of XLH

Due to the progressive nature of XLH, pediatric patients will eventually need to transition in care as they develop into young adults. Healthcare providers can play an active role in helping these patients become proactive in their care by promoting disease education and encouraging self-care.

The goals of treatment are:

In Children

Mitigate the progression of rickets in infants that have been diagnosed even before rachitic features manifest³
Augment growth through growth hormone supplementation³
In older children, correct leg abnormalities through surgeries, and facilitate the mineralization of the bones and teeth; phosphate and calcitriol may be beneficial depending on individualized goals^2,3
Encourage extensive dental care for the management of dental abscesses^2,3

In Adults

Reduction of pain and stiffness of the bones, muscles, and joints from osteoarthritis³
Corrective surgeries and other procedures that address underlying fractures, pseudofractures, and enthesopathies⁴
Promotion of bone mineralization through phosphate and calcitriol supplements for adult patients with planned surgeries (osteotomies and dental implants)^2,3
Extensive dental care for the management of dental abscesses and periodontitis; tooth extractions may be needed^2,3

GENETIC COUNSELING

For patients with X-linked dominant disorders like XLH, genetic counseling can be an important element in helping patients manage their condition, identify family members at risk, learn about existing protections against insurance and employment discrimination, and connect with patient support organizations.

Read about a program offering no-cost genetic counseling to eligible patients with XLH or their caregivers.

A careful transition for young adults with XLH may promote favorable disease management

Encourage your patients to sign up for the XLH disease monitoring program (XLH-DMP)

References:

1. Mäkitie O, Doria A, Kooh SW, Cole WG, Daneman A, Sochett E. Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 2003;88(8):3591-3597. 2. Carpenter TO, Imel EA, Holm IA, et al. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. 3. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-30. 4. Imel E. Outcomes of conventional therapy in children with XLH. Presented at: International Meeting of Pediatric Endocrinology; September 14-17, 2017; Washington, DC.

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Caring for patients with XLH requires a multidisciplinary approach

Patients with a confirmed or suspected diagnosis of XLH may require an individualized program of care

Early disease management can be favorable.1,2 Skeletal, muscular, and dental abnormalities can be improved but do not completely resolve.2

Treatment may help improve the symptoms of XLH

The goals of treatment are:

In Children

In Adults

GENETIC COUNSELING

A careful transition for young adults with XLH may promote favorable disease management

References:

Stay Informed

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Early disease management can be favorable.^1,2 Skeletal, muscular, and dental abnormalities can be improved but do not completely resolve.²