Carolina Tiago Afonso
ULSNE Hospital, PortugalTitle: Total shoulder reverse arthroplasty in alkaptonuria: an effective option to treat a complication of a rare disease
Abstract
Introduction: Alkaptonuria is a rare autosomal recessive disorder in which tyrosine metabolism is altered. There is a deficiency of the Homogentisate 1,2-dioxygenase enzyme (homogentisic acid oxidase) This enzyme is responsible for the metabolism of the tyrosine - homogentisic acid - in maleylacetoacetic acid. Accumulation of homogenous acid occurs in urine and conjunctival tissue in the second with important deleterious effects on cartilage and bone. The most limiting complication is progressive degenerative arthropathy, especially in the axial and load bearing joints, with a lower tendency to affect the shoulder. Because of its rarity little is known about the results
of arthroplasties in these patients.
Case Presentation: 60 years old man, retired, with a history of right knee arthroplasty 6 years ago (performed in another hospital). Sent to the orthopedic consultation due to intense shoulder pain. The case revealed to be a rare disease: arthropathy due Alkaptonuria. He was treated with total shoulder reverse arthroplasty. Currently with two years of follow-up, with excellent functional
results
Conclusion: The most commonly performed procedure, in this patients, is the hip prosthesis and there are few reported cases of shoulder arthroplasty. However, the results of our follow up are good and encouraging
Biography
Dr. Carolina Tiago Afonso is an accomplished healthcare professional with extensive experience in orthopedics and sports medicine. Graduating with a Bachelor's degree and integrated Master's degree from the Faculty of Medicine of the University of Lisbon in 2012, she then completed an internship at Centro Universitário e Hospitalar do Porto (CHUP) in 2013. Dr. Afonso furthered her expertise through an Orthopedics Internship at ULSNE (Unidade Local de Saúde do Nordeste) from 2014 to 2020, alongside prestigious Shoulder Fellowship programs at Hospital 12 Octobre in Madrid and CHUP in Porto. Transitioning into a role as responsible for shoulder/elbow pathology at ULSNE in 2020, and later at Trofa Saúde Vila Real in 2023, she has consistently demonstrated her dedication to patient care. Complementing her clinical practice, Dr. Afonso holds a postgraduate degree in Sports Medicine from the Faculty of Medicine of the University of Porto and completed an update course on the ICD-10-CM/PCS clinical coding system at CHUP. Her commitment to healthcare management is evidenced by her MBA in Hospital Management obtained in 2022.Dr. Afonso is a active member of the Portuguese Society of Orthopedics and Traumatology (SPOT), the Portuguese Shoulder and Elbow Society (SPCO), AOTrauma Europe and Southern Africa Member Her research interests are shoulder arthroscopy, sports medicine, hospital coding, and hospital management.
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