Alkaptonuria, more than just a mere disease

Abstract

ABSTRACTAlkaptonuria (AKU) is considered a rare autosomal recessive condition that results in an accumulation of homogentisic acid in body tissues and causes long-term clinical, neurological and psychological complications. We present a comprehensive evaluation of an atypical 46-year-old Caucasian male who developed all clinical diagnostic symptoms of AKU (ochronotic pigmentations, dark urine and clinical arthritis of major joints including spine) by 25 years of age, well before the typical age mentioned in many reviews. First signs of ochronotic ear pigmentations unexpectedly started appearing as early as 12 years of age. A long “disease-free” period typical in classical AKU patient was also absent. This case report highlights the importance of considering psychological issues in AKU patients. The patient showed symptoms of dysthymia reporting social isolation, diminished interest in pleasurable activities, feeling of worthlessness and irritability as major psychological issues. Early ochronotic pigmentation, advanced spinal myelopathy and arthropathy of major joints suggests aggressive course of the disease. Our patient underwent bilateral shoulder replacement due to AKU-induced arthropathy resulting in restoration of some range of motions. AKU is not fully understood and we recommend treating it as a multidimensional disease with simultaneous physiological, neurological and psychological effects. Early diagnosis, understanding of disease prognosis and emphasis on psychological health is needed to improve the quality of life of AKU patients.