Table 7.

X-Linked Hypophosphatemia: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Craniosynostosis Prompt referral to craniofacial specialist when head shape abnormalities are identified
Lower extremity bowing & torsion

"Guided growth" using stapling or toggle plate insertion in prepubertal children prior to peak growth velocity (generally age <10 yrs)

  • Consider as a minimally invasive method of reversible hemiepiphysiodesis. 1
  • Note: The risk w/this procedure is prematurely stopping growth.
  • Surgical treatment may be used in older children & adults w/misalignment.
  • Treatments may incl distraction osteogenesis (incl Ilizarov surgery) by external fixation, acute correction by external fixation w/intramedullary nailing, internal fixation w/intramedullary nailing, & acute correction by intramedullary nailing.
  • There are no controlled trials of the various surgical techniques; the literature consists of case series. 2
  • Complications of orthopedic surgery are common. 3
Degenerative joint disease Total hip or knee arthroplasty as needed
Musculoskeletal pain
  • Evaluate underlying causes (e.g., osteoarthritis, insufficiency fractures, osteophytes).
  • Rehab, physiotherapy, analgesics (paracetamol/acetaminophen, non-steroidal anti-inflammatory drugs, &/or opioids per standard practices in pain medicine)
Hyperparathyroidism
  • If tertiary hyperparathyroidism is identified, surgical eval (parathyroidectomy w/ or w/o auto-reimplantation) is warranted.
Hungry bone syndrome w/profound hypocalcemia is a common side effect following parathyroidectomy in persons w/XLH. 4
Dental abscesses
  • Good oral hygiene w/flossing, regular dental care, & fluoride treatments
  • Pit & fissure sealants
  • Pit & fissure sealants have not been well studied.
  • Treatment in adults w/phosphate & active vitamin D analogs may improve severity of dental disease. 5 In children, burosumab was assoc w/less dental abscesses compared to treatment w/phosphate & active vitamin D analogs. 6
Sensorineural hearing loss Standard treatmentSee Genetic Hearing Loss Overview, Management.
Psychosocial /
Quality of life
  • Education on XLH, psychosocial support, referral to XLH organizations
  • Consider dietary counseling.
Consider collaboration w/school or work physicians.
↑ risk of arterial hypertension, obesity, metabolic syndromeMgmt of cardiovascular comorbidities per standard practice
Fatigue
  • Consider treatment w/physical medicine & rehab.
  • Analgesics as needed
  • Consider sleep studies for suspected central or obstructive sleep apnea.

From: X-Linked Hypophosphatemia

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