Total Shoulder Reverse Arthroplasty in Alkaptonuria: An Effective Option to Treat a Complication of a Rare Disease.

Introduction: Alkaptonuria (AKU) 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 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 Report: A 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 was revealed to be a rare disease: arthropathy due AKU. He was treated with total shoulder reverse arthroplasty. Currently with two 2 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 follow-up are good and encouraging.

Multidisciplinary Portuguese recommendations on DXA request and indication to treat in the prevention of fragility fractures.

OBJECTIVE: To establish Portuguese recommendations regarding the indication to perform DXA and to initiate medication aimed at the prevention of fragility fractures. METHODS: A multidisciplinary panel, representing the full spectrum of medical specialties and patient associations devoted to osteoporosis, as well as national experts in this field and in health economics, was gathered to developed recommendations based on available evidence and expert consensus. Recently obtained data on the Portuguese epidemiologic, economic and quality-of-life aspects of fragility fractures were used to support decisions. RESULTS: 10 recommendations were developed covering the issues of whom to investigate with DXA and whom to treat with antifracture medications. Thresholds for assessment and intervention are based on the cost-effectiveness analysis of interventions at different thresholds of ten-year probability of osteoporotic fracture, calculated with the Portuguese version of FRAX® (FRAX®Port), and taking into account Portuguese epidemiologic and economic data. Limitations of FRAX® are highlighted and guidance for appropriate adjustment is provided, when possible. CONCLUSIONS: Cost-effectiveness thresholds for DXA examination and drug intervention aiming at fragility fracture prevention are now provided for the Portuguese population. These are practical, based on national epidemiological and economic data, evidence-based and supported by a wide scope multidisciplinary panel of experts and scientific societies. Implementation of these recommendations holds great promise in assuring the most effective use of health resources in the prevention of osteoporotic fractures in Portugal.

A FRAX model for the estimation of osteoporotic fracture probability in Portugal.

INTRODUCTION: The objective of this study was to develop a Portuguese version of the World Health Organization fracture risk assessment tool (FRAX®). METHODS: All cases of hip fracture occurred at or after 40 years of age were extracted from the Portuguese National Hospital Discharge Register from 2006 to 2010. Age and sex-ranked population estimates and mortality rates were obtained from National Statistics. Age- and gender stratified incidences were computed and the average of the five years under consideration was taken. Rates for other major fractures were imputed from the epidemiology of Sweden, as undertaken for most national FRAX® models. All methodological aspects and results were submitted to critical appraisal by a wide panel of national experts and representatives of the different stakeholders, including patients. RESULTS: Hip fracture incidence rates were higher in women than in men and increased with age. The lowest incidence was observed in 40-44 years group (14.1 and 4.0 per 100,000 inhabitants for men and women, respectively). The highest rate was observed among the 95-100 age-group (2,577.6 and 3,551.8/100,000 inhabitants, for men and women, respectively). The estimated ten-year probability for major osteoporotic fracture or hip fracture increased with decreasing T-score and with increasing age. CONCLUSIONS: Portugal has one of the lowest fracture incidences among European countries. The FRAX® tool has been successfully calibrated to the Portuguese population, and can now be used to estimate the ten-year risk of osteoporotic fractures in this country. All major stakeholders officially endorsed the Portuguese FRAX® model and co-authored this paper.