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symptoms & Diagnosis

symptoms & Diagnosis

Presentation of XLH in adults

XLH affects the whole body from childhood to adulthood. Signs and symptoms of XLH vary in presentation and severity. Some adults may have existing symptoms and complications from childhood, as well as new symptoms that develop later in life.1-4

Your patients may likely experience ongoing XLH-related symptoms and may not mention all of them or may even downplay them.

Symptoms of XLH in adults

Most adults with XLH have been living with symptoms since childhood and may develop new complications later in life. Over time, they may get used to the chronic pain, fatigue, and muscle dysfunction.2,3,5 As a chronic and progressive disease, XLH requires careful monitoring and early management of symptoms.

Existing symptoms from childhood
Molded plastic cast representing osteomalacia
Molded plastic lower torso including hip and bowed legs representing lower extremity abnormalities
Lower extremity abnormalities6,7
(leg bowing, knock knees, windswept deformities)
Molded plastic upper torso include arms and neck representing short stature
Short stature2,6
Molded plastic ront profile of a woman's face representing fatigue
Molded plastic side profile of a woman's uppser torso representing skeletal pain
Skeletal pain3,8
Molded plastic side profile of a woman's head representing Chiari malformations
Chiari malformations2,6
Another existing symptom from childhood includes:
  • Craniosynostosis3,8
Symptoms experienced in adulthood
Two molded plastic arms, one with a cast, representing fractures and pseudofractures
Fractures and pseudofractures2,5,9
Molded plastic hearing aid representing hearing loss
Hearing loss2,6
Other symptoms in adulthood include:
  • Enthesopathy2,3,6,9
    or the calcification of ligaments, tendons, and joint capsules
  • Spinal stenosis3
  • Osteoarthritis2,3,9

Muscular dysfunction

Chronic hypophosphatemia also affects the muscles in the body.
Muscular symptoms present as:
  • Stiffness3,10
  • Pain3,10
  • Weakness3,10
  • Gait disturbances3

Dental abnormalities

Chronic hypophosphatemia leads to dental defects by causing enlargement of the pulp chambers and damage to the enamel.2,6,9
Dental symptoms present as:
Molded plastic molar with an abscess representing dental abscesses and periodontitis
Dental abscesses6,9 and periodontitis2
The letter i within a diamond denoting a callout

Because some symptoms of XLH may not be visible like chronic pain or fatigue, it is important to listen to your patients. Getting an accurate diagnosis can help you manage the full range of symptoms they may be experiencing.

XLH progression in real patients

X-ray image of a subtrochanteric pseudofracture


49-year-old male with hereditary XLH

See the study

Connect the symptoms and take the next step

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Diagnosing XLH

Learn more about how to accurately diagnose XLH through testing.

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Managing XLH

Manage XLH early to prevent progressive bone damage.

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Learn more about XLH

Watch videos to get more information about how XLH affects the body.

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1. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. doi:10.1002/jbmr.340 2. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-R30. doi:10.1530/EC-13-0103 3. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334. doi:10.1210/js.2018-00365 4. Hamilton AA, Faitos S, Jones G, Kinsley A, Gupta RN, Lewiecki EM. Whole body, whole life, whole family: patients' perspectives on X-linked hypophosphatemia. J Endocr Soc. 2022;6(8):bvac086. doi:10.1210/jendso/bvac086 5. Giannini S, Bianchi ML, Rendina D, et al. Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review. Osteoporos Int. 2021;32(10):1937-1949. doi:10.1007/s00198-021-05997-1 6. Ruppe MD. X-linked hypophosphatemia. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; February 9, 2012. Updated April 13, 2017. 7. Haffner D, Emma F, Eastwood DM, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15(7):435-455. doi:10.1038/s41581-019-0152-5 8. Lo SH, Lachmann R, Williams A, Piglowska N, Lloyd AJ. Exploring the burden of X-linked hypophosphatemia: a European multi-country qualitative study. Qual Life Res. 2020;29(7):1883-1893. doi:10.1007/s11136-020-02465-x 9. Ruppe MD, Zhang X, Imel EA, et al. Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia. Bone Rep. 2016;5:158-162. doi:10.1016/j.bonr.2016.05.004 10. Trombetti A, Al-Daghri N, Brandi ML, et al. Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia. Nat Rev Endocrinol. 2022;18(6):366-384. doi:10.1038/s41574-022-00662-x