CASE HISTORY – August 2013

Alkaptonuria related aortic stenosis, coronary artery disease, secondary osteoarthrosis and their surgical management

Authors: Kaido Paapstel, Ants Paapstel, Ants Kass, Tõnu Peets, Enn Jõeste, Jaak Kals

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Alkaptonuria is a rare, progressive and irreversible genetic metabolic disorder. It is characterized by the classic clinical triad of homogentisic aciduria, ochronosis and arthritis. Aorticstenosis is the most common cardiovascular involvement in patients with alkaptonuria and sometimes surgical treatment may be needed. In addition, coronary artery disease and degenerative arthritis may occur in these patients.