Xantoma del tendón de aquiles bilateral: Debut de xantomatosis cerebrotendinosa

Resumen

Objetivo Presentación de un inusual caso de xantomatosis cerebrotendinosa en un paciente de edad cuya primera manifestación fueron xantomas bilaterales del tendón de Aquiles.

Material y métodos Mujer de 62 años, que presenta tumoraciones, que presenta tumoraciones sólidas y polilobuladas, en la cara posterior de ambos tendones de Aquiles de 8 años de evolución. El diagnóstico se realizó mediante el hallazgo de hiperlipidemia y estudio genético. Se realió la exóresis quirúrgica parcial de las tumoraciones.

Resultados A los 5 años de la cirugía del pie izquierdo y 4 años del pie derecho la paciente estaba asintomática. Presentaba una fuerza para la flexión plantar bilateral de 5/5, pudiendo caminar y subir escaleras sin molestias. Presentaba una escala AOFAS de 85 y 90 puntos en el pie izquierdo y derecho, respectivamente. No hubo recidivas.

Discusión Los xantomas son depósitos de colesterol en el tejido conectivo de la piel, tendones o fascia, como resultado de una hiperlipoproteinemia. La importancia del caso radica en su sospecha diagnóstica, ya que la xantomatosis cerebrotendinosa suele manifestarse en pacientes de menos de 30 años de edad y en los que se ha recomendado la resección radical de las tumoraciones, e incluso del tendón, debido a las frecuentes recidivas.

Conclusión En pacientes de mayor edad con lesiones que infiltran el tendón, se puede optar por un tratamiento menos agresivo con un buen resultado clínico.

Nivel de evidencia IV

Abstract

Objective Presentation of an unusual case of cerebrotendinous xanthomatosis in an elderly patient whose first manifestation was bilateral Achilles tendon xanthomas.

Material and methods 62-year-old woman presenting solid and polylobed tumors on the posterior aspect of both Achilles tendons for eight years. The diagnosis was made by means of hyperlipidemia and a genetic study. Surgical partial excision of the tumors was performed.

Results Five years after surgery on the left foot and four years after the right foot, the patient was asymptomatic. Bilateral plantar flexion force was 5/5, The patient was able to walk and climb stairs without discomfort. AOFAS score was 85 and 90 on the left and right feet, respectively. There were no recurrences.

Discussion Xanthomatosis is a genetic alteration with deposits of cholesterol in connective tissue of the skin, tendons or fascia, because of hyperlipoproteinemia. The importance of the present case lies in its diagnostic suspicion, since cerebrotendinous xanthomatosis manifests usually in patients under 30 years of age and in whom radical resection of tumors, and even of the tendon, has been recommended due to frequent recurrences .

Conclusion In older patients with tumors that infiltrate the tendon, a less aggressive treatment can be chosen with a good clinical result.

Level of evidence IV

Palabras clave

xantoma - tendón de Aquiles - xantomatosis cerebrotendinosa

Keywords

xanthoma - achilles tendon - cerebrotendinous xanthomatosis

Publication History

Received: 19 August 2020

Accepted: 25 August 2020

Article published online:
24 November 2020

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