Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations

Molecular Genetics and Metabolism Reports
Jennifer BeazerPKU Lost to Follow-Up Recommendations Group

Abstract

Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by mutations in the gene encoding phenylalanine hydroxylase, an enzyme that converts phenylalanine to tyrosine. Untreated, PKU is characterized by a range of neuropsychological and neurocognitive impairments. Due to ubiquitous newborn genetic screening programs, treatment for PKU can be commenced shortly after birth and can prevent many of the severe manifestations of the disease. However, lifelong management is critical for patients with PKU as high levels of phenylalanine are neurotoxic. As for all chronic diseases, long-term management can be challenging and most adult patients with PKU become lost to follow-up (LTFU). A survey of PKU clinics across the United States and a multidisciplinary Expert Meeting were conducted to develop best practices to engage LTFU patients with PKU. We defined LTFU patients with PKU as "patients with no contact with the clinic for at least 2 consecutive years." Combining the results from our survey and our discussion at the Expert Meeting, we have prepared six best practice recommendations to engage LTFU patients with PKU: 1) Ensure patients are aware of the current treatment guidelines for PKU; 2) Communicate to patients any ne...Continue Reading

Citations

Mar 16, 2021·Telemedicine Journal and E-health : the Official Journal of the American Telemedicine Association·Tanyel ZubariogluCigdem Aktuglu-Zeybek
Jun 5, 2021·Orphanet Journal of Rare Diseases·Domingo González-LamuñoLuís Aldámiz-Echevarría
Jun 5, 2021·Molecular Genetics and Metabolism·Marianna BeghiniMiriam Hufgard-Leitner
Aug 28, 2021·Journal of Clinical Medicine·Fernando AndradeJavier de Las Heras

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