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Ochronotic arthropathy: diagnosis and management: a critical review. 2012

Emmanouil Drakoulakis, and Dimitrios Varvitsiotis, and Georgioss Psarea, and John Feroussis
Asclepieion Voulas, Athens, Greece.

Alkaptonuria, a rare hereditary metabolic disorder, is characterized by accumulation of homogentisic acid in the connective tissues resulting from lack of the enzyme homogentisic acid oxidase. Ochronosis, dark pigmentation of connective tissues, is the musculoskeletal manifestation of alkaptonuria. In this article, we report the case of a 53-year-old man who had ochronotic arthropathy and advanced degenerative changes in the shoulders managed with bilateral total shoulder arthroplasty. Three-year follow-up results were satisfactory: good range of motion, no pain, and no signs of prosthesis loosening. Shoulder function was significantly improved after surgery, as documented by Constant scores. This case suggests that shoulder prosthesis results are not affected by alkaptonuria.

UI MeSH Term Description Entries
D007592 Joint Diseases Diseases involving the JOINTS. Arthropathies,Arthropathy,Joint Disease
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009794 Ochronosis The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES). Ochronoses
D011183 Postoperative Complications Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery. Complication, Postoperative,Complications, Postoperative,Postoperative Complication
D011475 Prosthesis Failure Malfunction of implantation shunts, valves, etc., and prosthesis loosening, migration, and breaking. Prosthesis Loosening,Prosthesis Durability,Prosthesis Migration,Prosthesis Survival,Durabilities, Prosthesis,Durability, Prosthesis,Failure, Prosthesis,Failures, Prosthesis,Loosening, Prosthesis,Loosenings, Prosthesis,Migration, Prosthesis,Migrations, Prosthesis,Prosthesis Durabilities,Prosthesis Failures,Prosthesis Loosenings,Prosthesis Migrations,Prosthesis Survivals,Survival, Prosthesis,Survivals, Prosthesis
D005081 Exercise Therapy A regimen or plan of physical activities designed and prescribed for specific therapeutic goals. Its purpose is to restore normal musculoskeletal function or to reduce pain caused by diseases or injuries. Rehabilitation Exercise,Remedial Exercise,Therapy, Exercise,Exercise Therapies,Exercise, Rehabilitation,Exercise, Remedial,Exercises, Rehabilitation,Exercises, Remedial,Rehabilitation Exercises,Remedial Exercises,Therapies, Exercise
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000474 Alkaptonuria An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS. Alcaptonuria,Homogentisic Acid Oxidase Deficiency,Homogentisic Acidura,Alcaptonurias
D012785 Shoulder Joint The articulation between the head of the HUMERUS and the glenoid cavity of the SCAPULA. Glenohumeral Joint,Glenoid Labrum,Glenohumeral Joints,Joint, Glenohumeral,Joint, Shoulder,Joints, Glenohumeral,Joints, Shoulder,Labrum, Glenoid,Shoulder Joints

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