PMID- 34083143 OWN - NLM STAT- MEDLINE DCOM- 20220107 LR - 20220107 IS - 1096-7206 (Electronic) IS - 1096-7192 (Linking) VI - 133 IP - 3 DP - 2021 Jul TI - Project "Backtoclinic I": An overview on the state of care of adult PKU patients in Austria. PG - 257-260 LID - S1096-7192(21)00704-6 [pii] LID - 10.1016/j.ymgme.2021.05.003 [doi] AB - BACKGROUND: High rates of lost to follow-up (LTFU) adult patients are a major concern in the long-term management of phenylketonuria (PKU). To address this issue, we designed the project "Backtoclinic" with the purpose of identifying LTFU adult PKU patients in Austria as a first step to reestablish appropriate treatment. SUBJECTS AND METHODS: Individuals born between 1966 and 1999 and diagnosed with PKU through the National Austrian Newborn Screening Program (NANSP) were identified using the NANSP's database. Follow-up data were collected in the Austrian metabolic centers (Medical University of Vienna, Graz, Innsbruck and Salzburg). Patients with no contact to any of these centers within the previous two years were classified as LTFU. Epidemiological characteristics of the whole study population as well as of LTFU- and currently in follow-up patients were analyzed. RESULTS: Between 1966 and 1999, 281 individuals were diagnosed with PKU through the NANSP. Two patients died in their first year of life and were excluded from the analysis. Of the remaining 279 patients (mean age +/- SD: 36.7 +/- 9.1 y, 42.7% females), 177 (63.4%) are currently LTFU. The rate of LTFU patients is higher in men than in women (68.1% vs 57.5%), and markedly increases with age in both sexes. The gender gap is greatest in young adults (52.6% vs. 25.0% in the age range 20.0-24.9 y) and declines with age (94.4% vs. 80.0% in the age range > 45.0 y). CONCLUSIONS: We found an alarming rate of 63.4% of LTFU adult PKU patients in Austria, and observed a gender gap in the PKU state of care. Our findings illustrate the urgent need for the metabolic community to identify LTFU adult PKU patients and to develop strategies to reestablish appropriate treatment for men and women with PKU. CI - Copyright (c) 2021. Published by Elsevier Inc. FAU - Beghini, Marianna AU - Beghini M AD - Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Wahringer Gurtel 18-20, 1090 Vienna, Austria. Electronic address: marianna.beghini@meduniwien.ac.at. FAU - Resch, Felix J AU - Resch FJ AD - Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Wahringer Gurtel 18-20, 1090 Vienna, Austria. FAU - Moslinger, Dorothea AU - Moslinger D AD - Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Waehringerguertel 18-20, 1090 Vienna, Austria. Electronic address: dorothea.moeslinger@meduniwien.ac.at. FAU - Konstantopoulou, Vassiliki AU - Konstantopoulou V AD - Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Waehringerguertel 18-20, 1090 Vienna, Austria. Electronic address: vassiliki.konstantopoulou@meduniwien.ac.at. FAU - Karall, Daniela AU - Karall D AD - Division of Inherited Metabolic Disorders, Clinic of Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria. Electronic address: Daniela.Karall@i-med.ac.at. FAU - Scholl-Burgi, Sabine AU - Scholl-Burgi S AD - Division of Inherited Metabolic Disorders, Clinic of Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria. Electronic address: sabine.scholl-buergi@tirol-kliniken.at. FAU - Brunner-Krainz, Michaela AU - Brunner-Krainz M AD - Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Auenbruggerplatz 34/2, 8036 Graz, Austria. Electronic address: michaela.brunner-krainz@klinikum-graz.at. FAU - Plecko, Barbara AU - Plecko B AD - Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Auenbruggerplatz 34/2, 8036 Graz, Austria. Electronic address: barbara.plecko@medunigraz.at. FAU - Spenger, Johannes AU - Spenger J AD - University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), 5020 Salzburg, Austria. Electronic address: j.spenger@salk.at. FAU - Kautzky-Willer, Alexandra AU - Kautzky-Willer A AD - Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Wahringer Gurtel 18-20, 1090 Vienna, Austria. Electronic address: alexandra.kautzky-willer@meduniwien.ac.at. FAU - Scherer, Thomas AU - Scherer T AD - Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Wahringer Gurtel 18-20, 1090 Vienna, Austria. Electronic address: thomas.scherer@meduniwien.ac.at. FAU - Hufgard-Leitner, Miriam AU - Hufgard-Leitner M AD - Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Wahringer Gurtel 18-20, 1090 Vienna, Austria. Electronic address: miriam.hufgard-leitner@meduniwien.ac.at. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20210511 PL - United States TA - Mol Genet Metab JT - Molecular genetics and metabolism JID - 9805456 SB - IM MH - Adult MH - Age Factors MH - Ambulatory Care Facilities MH - Austria MH - Disease Management MH - Female MH - Humans MH - Infant, Newborn MH - *Lost to Follow-Up MH - Male MH - Middle Aged MH - Neonatal Screening MH - Phenylketonurias/*diagnosis/*drug therapy/epidemiology MH - Sex Factors OTO - NOTNLM OT - Adult PKU patients OT - Gender medicine OT - LTFU OT - Lost generation OT - Lost to follow-up OT - PKU OT - Phenylketonuria COIS- Declaration of Competing Interest All authors declare no conflict of interest. EDAT- 2021/06/05 06:00 MHDA- 2022/01/08 06:00 CRDT- 2021/06/04 05:51 PHST- 2021/03/12 00:00 [received] PHST- 2021/05/07 00:00 [revised] PHST- 2021/05/08 00:00 [accepted] PHST- 2021/06/05 06:00 [pubmed] PHST- 2022/01/08 06:00 [medline] PHST- 2021/06/04 05:51 [entrez] AID - S1096-7192(21)00704-6 [pii] AID - 10.1016/j.ymgme.2021.05.003 [doi] PST - ppublish SO - Mol Genet Metab. 2021 Jul;133(3):257-260. doi: 10.1016/j.ymgme.2021.05.003. Epub 2021 May 11.