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Although the prognosis of PKU has greatly improved in the last decades, the pathomechanism is still insufficiently understood and life-long adherence to therapy involves many sacrifices. Severe symptoms are seldom reported in this patient group but both the disease and its treatment may contribute to long-term complications. The main aims of my doctoral research were to assess and contribute to the timely prediction of these long-term complications and to investigate the relationship between these abnormalities and treatment adherence.
We assessed HRQoL in Hungarian adult patients using the newly developed PKU-QoL questionnaire and investigated the relationship between therapy adherence and subjectively perceived QoL outcomes. We conclude, that suboptimal metabolic control is negatively associated with patients HRQoL. Furthermore, we found that classical PKU patients with good therapy adherence reached better scores in most domains compared to peers with partial adherence. We stress the importance of maintaining good therapy adherence in adulthood and of regular monitoring HRQoL to improve outcome.
Life-long natural protein restricted diet with amino acid supplements may lead to altered body composition. We used MF-BIA for detailed assessment of body composition and found no distinct correlation between body composition parameters and adherence to diet in a 10-year interval. We conclude, that obesity is an important comorbidity in young adult PKU patients, especially in women. Weight management should be an additional goal of PKU care to achieve lower rates of obesity and therefore to minimise the risk for metabolic syndrome.
We were the first to study bone mineral density and to compare BMD change with adherence to therapy in adult PKU patients in our country. Similarly, to what is seen in international literature, we found BMD below the expected range of age in a proportion of patients. Low bone mineral density observed in young adults is relevant because of potentially increased risk of osteoporosis later in life. Our results suggest that keeping a relaxed diet does not contribute significantly to decrease in bone mineral density in adulthood. We presume, that peak BMD is already decreased in affected patients, but further studies are much needed to prove or reject this hypothesis.
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