Achilles tendon enthesopathy in ochronosis.
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A 64-year-old male patient with unknown alkaptonuria and severe aortic stenosis and ischemic heart disease was admitted to the authors' institution for elective surgery. The patient underwent aortic valve replacement with a 25-mm aortic valve (ATS Medical, Inc.) and single venous aortocoronary artery bypass grafting for a right coronary artery. Aortotomy revealed typical ochronotic pigmentation of a severely calcified aortic valve and aortic intima. A diagnosis of alkaptonuria was confirmed by evidence of homogentisic acid in the patient's urine, together with histopathological analysis.
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The case of two brothers affected by alcaptonurie is reported. The activity of the homogenthisycasa enzyme has been determined by the material obtained through percutaneous biopsy. Concentrations of the aminoacids producing fenilalanina and thiroxina in their parents' blood have been investigated, the tests showing lack of liver enzyme and normal concentration of the amount of aminoacids in blood. Some aspects of skin lesion have been briefly reported and methods for treatment presented.
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