XLH Disease Management & Symptom Management

DISEASE MANAGEMENT

ESTABLISH CARE

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:

Endocrinologist¹
Nephrologist¹
General practitioner¹
Pediatrician³

Occupational and physical therapists¹
Orthopedic surgeon³
Rheumatologist

Geneticist²
Pain specialist⁴
Genetic counselor²

Early disease management can be favorable.^1,3 Skeletal, muscular, and dental abnormalities can be improved but do not completely resolve.³

XLH Management

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.

Management Goals For Children

Mitigate the progression of rickets in infants that have been diagnosed even before rachitic features manifest⁴
Augment growth through growth hormone supplementation⁴
In older children, correct leg abnormalities through surgeries, and facilitate the mineralization of the bones and teeth^3,4
Encourage extensive dental care for the management of dental abscesses^3,4

Management Goals For Adults

Reduction of pain and stiffness of the bones, muscles, and joints from osteoarthritis⁴
Corrective surgeries and other procedures that address underlying fractures, pseudofractures, and enthesopathies³
Promotion of bone mineralization^3,4
Extensive dental care for the management of dental abscesses and periodontitis; tooth extractions may be needed^3,4

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.

Genetic counseling for patients with X-linked hypophosphatemia

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

References:

1. Dahir K, Roberts MS, Krolczyk S, Simmons JH. X-linked hypophosphatemia: a new era in management. J Endocr Soc. 2020;4(12):bvaa151. 2. Ruppe MD. X-linked hypophosphatemia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews^® University of Washington, Seattle; 1993-2022. Published February 9, 2012. Updated April 13, 2017. https://www.ncbi.nlm.nih.gov/books/NBK83985/ 3. 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. 4. 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.