PhD Scientific Days 2020

Clinical Medicine IV. Lectures

Assessment of Health Related Quality of Life among Early-treated Hungarian Adult PKU Patients

Előadó neve

Dr. Barta, András Gellért

Előadó munkahelye

2nd department of internal medicine, Semmelweis University

Előadó telefonszáma

303309096

Előadó e-mail címe

bartaandris@gmail.com

Az előadás címe

Assessment of Health Related Quality of Life among Early-treated Hungarian Adult PKU Patients

Szerző(k) neve és munkahelye

András Gellért Barta (a), Csaba Sumánszki (a), Zsófia Turgonyi (b), Erika Kiss (c), Erika Simon (c) , Csilla Serfőző (d), Péter Reismann (a)
a 2nd Department of Internal Medicine, Semmelweis University, Budapest, Hungary
b Faculty of Medicine, Semmelweis University, Budapest, Hungary
c 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary
d Department of Ophthalmology, Semmelweis University, Budapest, Hungary

Szekció

Clinical Medicine IV. Lectures

Language of the presentation

English

Section, first choice

Clinical Medicine

Section, second choice

Health Sciences

Összefoglaló szövege

Background: The implementation of neonatal screening and the early initiation of lifelong therapy helped to prevent severe complications and enabled a much more favorable outcome for early-treated PKU (ETPKU) patients. However, PKU patients tend to develop subtle cognitive and psychosocial abnormalities whereas the strict dietary therapy also presents financial and social burden. Thus, PKU is expected to affect the quality of life of these patients. There is insufficient evidence regarding the relation between metabolic control and Health Related Quality of Life (HRQoL). We aimed to assess the short and long term therapy effect on quality of life of Hungarian adult PKU population using the standardised PKU specific PKU-QoL questionnaire.
Methods: We conducted a single centre, cross sectional, observational study in Hungary. We included adult PKU patients treated with diet and aminoacid supplements only. Patients reported HRQoL with the standardized adult PKU-QoL questionnaire whereas average blood Phe concentration was assessed in three different time periods: previous 10 years, previous year and actual metabolic status. Correlation between patients’ QoL scores and their Phe levels was investigated. Classical PKU group was further divided into “good” and “suboptimal” adherent group based on the individual mean Phe levels in the examined time period. We evaluated differences in quality of life among the two subgroups of classical PKU patients.
Results: Data from 88 adult patients were analysed (66 of them classical PKU). No median score reached mayor or severe impact/frequent symptoms in any domain. Highest scores (meaning larger burden) are mostly related to emotional impact of PKU and disease management. When performing correlation analysis between Phe levels and QoL scores by all patients we found weak to fair positive correlation in several domains either short or long term. Good therapy adherent Classical PKU patients tend to report better scores than patients with suboptimal adherence.
Conclusion: We conclude that patients showed good HRQoL using the PKU specific questionnaire. Our study demonstrates that suboptimal metabolic control is negatively associated with patients health related quality of life.

Additional Information

My Supervisor: Péter Reismann
2nd Department of Internal Medicine, Semmelweis University, Budapest (H-1088), Szentkirályi u. 46. e-mail address: reismann.peter@med.semmelweis-univ.hu

Bemutatás módja

Szóbeli

Kind

Szabad

Status

elfogadva

Accepted presentation method

szóbeli

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

4604

Start

16:30

End

16:45

Authors (legacy)

András Gellért Barta (a), Csaba Sumánszki (a), Zsófia Turgonyi (b), Erika Kiss (c), Erika Simon (c) , Csilla Serfőző (d), Péter Reismann (a)
a 2nd Department of Internal Medicine, Semmelweis University, Budapest, Hungary
b Faculty of Medicine, Semmelweis University, Budapest, Hungary
c 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary
d Department of Ophthalmology, Semmelweis University, Budapest, Hungary