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Inicio Medicina Clínica (English Edition) X-linked hypophosphatemic osteomalacia (XLH): Study of 5 adult patients
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Vol. 160. Issue 5.
Pages 218-221 (March 2023)
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Vol. 160. Issue 5.
Pages 218-221 (March 2023)
Clinical report
X-linked hypophosphatemic osteomalacia (XLH): Study of 5 adult patients
Osteomalacia hipofosfatémica ligada al cromosoma X (XLH): análisis de 5 pacientes adultos
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Chafik Chacura, Eva Gonzalezb, Pilar Perisa,
Corresponding author
pperis@clinic.cat

Corresponding author.
a Unidad de Patología Metabólica Ósea, Servicio de Reumatología, Hospital Clínic, Universidad de Barcelona, Barcelona, Spain
b Servicio de Inmunología, Laboratorio CORE Biología Molecular, Hospital Clínic, Universidad de Barcelona, Barcelona, Spain
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Abstract
Background

X-linked hypophosphatemic osteomalacia (XLH) is an inherited disorder that can cause highly disabling musculoskeletal comorbidities in adulthood.

Objective

To analyze the clinical-radiological characteristics, comorbidities and complications associated with the disease and treatment in an adult population with XLH.

Method

Retrospective study of patients treated for XLH in a rheumatology department in the last 10 years, evaluating the clinical-radiological findings, comorbidities and associated complications.

Results

Five patients between 39 and 75 years of age were included. All had short stature, osteoarticular symptoms and radiological enthesopathy. Four patients had early degenerative arthropathy of the knees and hips, and dental alterations associated with their disease. All patients older than 50 years required some type of prosthetic replacement. Two patients had femoral stress fractures, one had renal lithiasis and another developed tertiary hyperparathyroidism.

Conclusions

Musculoskeletal manifestations are frequent and disabling in the adult population with XLH, so proper diagnosis and management from childhood are essential to prevent the development of complications in adulthood associated with this disease.

Keywords:
X-linked hypophosphataemia
XLH
Osteomalacia
Raquitismo
FGF23
Resumen
Antecedentes

La osteomalacia hipofosfatémica ligada al cromosoma X (XLH) es un trastorno hereditario que puede ocasionar comorbilidades musculoesqueléticas altamente incapacitantes en edad adulta.

Objetivo

Analizar las características clínico-radiológicas, comorbilidades y complicaciones asociadas a la enfermedad y al tratamiento en la población adulta con XLH.

Método

Estudio retrospectivo de pacientes atendidos por XLH en un servicio de reumatología los últimos 10 años, evaluando los hallazgos clínico-radiológicos, las comorbilidades y las complicaciones asociadas.

Resultados

Se incluyeron 5 pacientes de entre 39 y 75 años de edad. Todos presentaban talla baja, síntomas osteoarticulares y entesopatía radiológica. En 4 se observó artropatía degenerativa precoz de rodillas y caderas, y alteraciones dentales asociadas a su enfermedad. Todos los pacientes mayores de 50 años requirieron algún tipo de sustitución protésica. Dos pacientes presentaron fracturas de estrés en fémur, uno litiasis renal y otro desarrolló un hiperparatiroidismo terciario.

Conclusiones

Las manifestaciones musculoesqueléticas son frecuentes e invalidantes en la población adulta con XLH, por lo que un adecuado diagnóstico y manejo desde la infancia son esenciales para prevenir el desarrollo de complicaciones en la edad adulta asociadas a esta enfermedad.

Palabras clave:
Hipofosfatemia ligada al cromosoma X
XLH
Osteomalacia
Raquitismo
FGF23

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