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.

中文翻译：

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“Backtoclinic I”项目：奥地利成人 PKU 患者的护理状况概述

背景

高失访率 (LTFU) 成年患者是苯丙酮尿症 (PKU) 长期管理的主要问题。为了解决这个问题，我们设计了“Backtoclinic”项目，目的是识别奥地利的 LTFU 成人 PKU 患者，作为重新建立适当治疗的第一步。

主题和方法

使用 NANSP 的数据库确定出生于 1966 年至 1999 年并通过奥地利国家新生儿筛查计划 (NANSP) 诊断为 PKU 的个体。在奥地利代谢中心（维也纳医科大学、格拉茨、因斯布鲁克和萨尔茨堡）收集了后续数据。在过去两年内没有与任何这些中心接触的患者被归类为 LTFU。分析了整个研究人群以及 LTFU 和目前随访患者的流行病学特征。

结果

1966 年至 1999 年间，281 人通过 NANSP 被诊断出患有 PKU。两名患者在出生后的第一年死亡，并被排除在分析之外。在其余 279 名患者（平均年龄 ± SD：36.7 ± 9.1 岁，42.7% 女性）中，目前有 177 名（63.4%）是 LTFU。男性 LTFU 患者的发病率高于女性（68.1% vs 57.5%），并且随着年龄的增长而显着增加。性别差距在年轻人中最大（52.6% 对 25.0% 在 20.0-24.9 岁的年龄范围内）并随着年龄的增长而下降（94.4% 对 80.0% 在 > 45.0 岁的年龄范围内）。

结论

我们发现奥地利 63.4% 的 LTFU 成人 PKU 患者的比例令人震惊，并观察到 ​​PKU 护理状态的性别差距。我们的研究结果表明，代谢界迫切需要识别 LTFU 成年 PKU 患者，并制定策略来为患有 PKU 的男性和女性重新建立适当的治疗。