Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.

Trefz KF, Muntau AC, Kohlscheen KM, Altevers J, Jacob C, Braun S, Greiner W, Jha A, Jain M, Alvarez I, Lane P, et al. (2019)
Orphanet journal of rare diseases 14(1): 181.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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Autor*in
Trefz, K F; Muntau, A C; Kohlscheen, K M; Altevers, J; Jacob, C; Braun, S; Greiner, WolfgangUniBi; Jha, A; Jain, M; Alvarez, I; Lane, P; Schroder, C
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Abstract / Bemerkung
BACKGROUND: Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment. The management of PKU should start as soon as possible after diagnosis to prevent irreversible damage and be maintained throughout life. The aim of this study was to assess the burden of illness in PKU patients in general and in PKU patients born before and after the introduction of newborn screening in Germany.; METHODS: This retrospective matched cohort analysis used the Institut fur angewandte Gesundheitsforschung Berlin (InGef) research database containing anonymized healthcare claims of approximately 4 million covered lives. PKU patients were compared with matched controls from the general population within the same database (1:10 ratio via direct, exact matching on age and gender without replacement). PKU patients were included if they were aged ≥18years on 01/01/15 and were continuously enrolled from 01/01/10 to 31/12/15. The 50 most commonly reported comorbidities and 50 most commonly prescribed medications in the PKU population were analyzed. Differences between groups were tested using 95% confidence interval (CI) of prevalence ratio (PR) values.; RESULTS: The analysis included 377 adult PKU patients (<5 of which were receiving sapropterin dihydrochloride) and 3,770 matched controls. Of the 50 most common comorbidities in the PKU population, those with a statistically significant PR>1.5 vs controls included major depressive disorders (PR=2.3), chronic ischemic heart disease (PR=1.7), asthma (PR=1.7), dizziness and giddiness (PR=1.8), unspecified diabetes mellitus (PR=1.7), infectious gastroenteritis and colitis (PR=1.7), and reaction to severe stress and adjustment disorders (PR=1.6). The most commonly prescribed Anatomical Therapeutic Chemical (ATC) subcodes among PKU patients (vs the control population) are for systemic antibacterials (34.7% vs 32.8%), anti-inflammatory and antirheumatic (29.4% vs 27.5%), renin-angiotensin agents (30.0% vs 27.0%), acid-related disorders (29.4% vs 20.2%), and beta-blockers (24.9% vs 19.9%).; CONCLUSION: The overall clinical burden on patients with PKU is exacerbated by a significantly higher risk of numerous comorbidities and hence, prescribing of the requisite medication, both for recognized (e.g. major depressive disorders) and more unexpected comorbidities (e.g. ischemic heart disease).
Erscheinungsjahr
2019
Zeitschriftentitel
Orphanet journal of rare diseases
Band
14
Ausgabe
1
Art.-Nr.
181
ISSN
1750-1172
eISSN
1750-1172
Page URI
https://pub.uni-bielefeld.de/record/2936722

Zitieren

Trefz KF, Muntau AC, Kohlscheen KM, et al. Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data. Orphanet journal of rare diseases. 2019;14(1): 181.
Trefz, K. F., Muntau, A. C., Kohlscheen, K. M., Altevers, J., Jacob, C., Braun, S., Greiner, W., et al. (2019). Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data. Orphanet journal of rare diseases, 14(1), 181. doi:10.1186/s13023-019-1153-y
Trefz, K. F., Muntau, A. C., Kohlscheen, K. M., Altevers, J., Jacob, C., Braun, S., Greiner, W., Jha, A., Jain, M., Alvarez, I., et al. (2019). Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data. Orphanet journal of rare diseases 14:181.
Trefz, K.F., et al., 2019. Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data. Orphanet journal of rare diseases, 14(1): 181.
K.F. Trefz, et al., “Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.”, Orphanet journal of rare diseases, vol. 14, 2019, : 181.
Trefz, K.F., Muntau, A.C., Kohlscheen, K.M., Altevers, J., Jacob, C., Braun, S., Greiner, W., Jha, A., Jain, M., Alvarez, I., Lane, P., Schroder, C., Rutsch, F.: Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data. Orphanet journal of rare diseases. 14, : 181 (2019).
Trefz, K F, Muntau, A C, Kohlscheen, K M, Altevers, J, Jacob, C, Braun, S, Greiner, Wolfgang, Jha, A, Jain, M, Alvarez, I, Lane, P, Schroder, C, and Rutsch, F. “Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.”. Orphanet journal of rare diseases 14.1 (2019): 181.

40 References

Daten bereitgestellt von Europe PubMed Central.

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA; American College of Medical Genetics and Genomics Therapeutics Committee., Genet. Med. 16(2), 2013
PMID: 24385074
How practical are recommendations for dietary control in phenylketonuria?
Walter JH, White FJ, Hall SK, MacDonald A, Rylance G, Boneh A, Francis DE, Shortland GJ, Schmidt M, Vail A., Lancet 360(9326), 2002
PMID: 12114043
Vitamin and mineral status in patients with hyperphenylalaninemia.
Crujeiras V, Aldamiz-Echevarria L, Dalmau J, Vitoria I, Andrade F, Roca I, Leis R, Fernandez-Marmiesse A, Couce ML., Mol. Genet. Metab. 115(4), 2015
PMID: 26123187
The micronutrient status of patients with phenylketonuria on dietary treatment: an ongoing challenge.
Evans S, Daly A, MacDonald J, Preece MA, Santra S, Vijay S, Chakrapani A, MacDonald A., Ann. Nutr. Metab. 65(1), 2014
PMID: 25196394
The metabolic syndrome--a new worldwide definition.
Alberti KG, Zimmet P, Shaw J; IDF Epidemiology Task Force Consensus Group., Lancet 366(9491), 2005
PMID: 16182882
Arterial stiffness assessment in patients with phenylketonuria.
Hermida-Ameijeiras A, Crujeiras V, Roca I, Calvo C, Leis R, Couce ML., Medicine (Baltimore) 96(51), 2017
PMID: 29390507
Fish-Free Diet in Patients with Phenylketonuria Is Not Associated with Early Atherosclerotic Changes and Enhanced Platelet Activation.
Htun P, Nee J, Ploeckinger U, Eder K, Geisler T, Gawaz M, Bocksch W, Fateh-Moghadam S., PLoS ONE 10(8), 2015
PMID: 26291823
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.
Couce ML, Vitoria I, Aldamiz-Echevarria L, Fernandez-Marmiesse A, Roca I, Llarena M, Sanchez-Pintos P, Leis R, Hermida A., Orphanet J Rare Dis 11(1), 2016
PMID: 27612877
Plasma cholesterol in adults with phenylketonuria.
Williams RA, Hooper AJ, Bell DA, Mamotte CD, Burnett JR., Pathology 47(2), 2015
PMID: 25551302
Is overweight an issue in phenylketonuria?
Rocha JC, MacDonald A, Trefz F., Mol. Genet. Metab. 110 Suppl(), 2013
PMID: 24055312
Body mass index in adult patients with diet-treated phenylketonuria.
Robertson LV, McStravick N, Ripley S, Weetch E, Donald S, Adam S, Micciche A, Boocock S, MacDonald A., J Hum Nutr Diet 26 Suppl 1(), 2013
PMID: 23551621
Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey.
Gokmen Ozel H, Ahring K, Belanger-Quintana A, Dokoupil K, Lammardo AM, Robert M, Rocha JC, Almeida MF, van Rijn M, MacDonald A., Mol Genet Metab Rep 1(), 2014
PMID: 27896128
Metabolic syndrome in children and adolescents with phenylketonuria.
Kanufre VC, Soares RD, Alves MR, Aguiar MJ, Starling AL, Norton RC., J Pediatr (Rio J) 91(1), 2014
PMID: 25458873
The Confidential Inquiry into premature deaths of people with intellectual disabilities in the UK: a population-based study.
Heslop P, Blair PS, Fleming P, Hoghton M, Marriott A, Russ L., Lancet 383(9920), 2013
PMID: 24332307
Prevalence of heart failure in nursing homes: a systematic literature review.
Daamen MA, Schols JM, Jaarsma T, Hamers JP., Scand J Caring Sci 24(1), 2010
PMID: 20070599
Heart failure in nursing home residents; a cross-sectional study to determine the prevalence and clinical characteristics.
Daamen MA, Hamers JP, Gorgels AP, Brunner-La Rocca HP, Tan FE, van Dieijen-Visser MP, Schols JM., BMC Geriatr 15(), 2015
PMID: 26675117
Chronic kidney disease in adolescent and adult patients with phenylketonuria.
Hennermann JB, Roloff S, Gellermann J, Vollmer I, Windt E, Vetter B, Plockinger U, Monch E, Querfeld U., J. Inherit. Metab. Dis. 36(5), 2012
PMID: 23138985
Oxidative stress, aging, and diseases.
Liguori I, Russo G, Curcio F, Bulli G, Aran L, Della-Morte D, Gargiulo G, Testa G, Cacciatore F, Bonaduce D, Abete P., Clin Interv Aging 13(), 2018
PMID: 29731617
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
Cleary M, Trefz F, Muntau AC, Feillet F, van Spronsen FJ, Burlina A, Belanger-Quintana A, Gizewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A., Mol. Genet. Metab. 110(4), 2013
PMID: 24090706
Oxidative stress in phenylketonuria: future directions.
Rocha JC, Martins MJ., J. Inherit. Metab. Dis. 35(3), 2011
PMID: 22116469
Oxidative stress in phenylketonuria: what is the evidence?
Ribas GS, Sitta A, Wajner M, Vargas CR., Cell. Mol. Neurobiol. 31(5), 2011
PMID: 21516352
Phenylalanine induces oxidative stress and decreases the viability of rat astrocytes: possible relevance for the pathophysiology of neurodegeneration in phenylketonuria.
Preissler T, Bristot IJ, Costa BM, Fernandes EK, Rieger E, Bortoluzzi VT, de Franceschi ID, Dutra-Filho CS, Moreira JC, Wannmacher CM., Metab Brain Dis 31(3), 2015
PMID: 26573865
Oxidative stress in patients with phenylketonuria.
Sirtori LR, Dutra-Filho CS, Fitarelli D, Sitta A, Haeser A, Barschak AG, Wajner M, Coelho DM, Llesuy S, Bello-Klein A, Giugliani R, Deon M, Vargas CR., Biochim. Biophys. Acta 1740(1), 2005
PMID: 15878743
Evidence that DNA damage is associated to phenylalanine blood levels in leukocytes from phenylketonuric patients.
Sitta A, Manfredini V, Biasi L, Tremea R, Schwartz IV, Wajner M, Vargas CR., Mutat. Res. 679(1-2), 2009
PMID: 19665577
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.
Burton BK, Jones KB, Cederbaum S, Rohr F, Waisbren S, Irwin DE, Kim G, Lilienstein J, Alvarez I, Jurecki E, Levy H., Mol. Genet. Metab. 125(3), 2018
PMID: 30266197
Adult phenylketonuria outcome and management.
Trefz F, Maillot F, Motzfeldt K, Schwarz M., Mol. Genet. Metab. 104 Suppl(), 2011
PMID: 21944883
Regional Differences in the Prevalence of Cardiovascular Disease.
Dornquast C, Kroll LE, Neuhauser HK, Willich SN, Reinhold T, Busch MA., Dtsch Arztebl Int 113(42), 2016
PMID: 27866565
Characteristics and external validity of the German Health Risk Institute (HRI) Database.
Andersohn F, Walker J., Pharmacoepidemiol Drug Saf 25(1), 2015
PMID: 26530279
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Belanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ., Orphanet J Rare Dis 12(1), 2017
PMID: 29025426
Validating recommendations for coronary angiography following acute myocardial infarction in the elderly: a matched analysis using propensity scores.
Normand ST, Landrum MB, Guadagnoli E, Ayanian JZ, Ryan TJ, Cleary PD, McNeil BJ., J Clin Epidemiol 54(4), 2001
PMID: 11297888
Updating and validating the Charlson comorbidity index and score for risk adjustment in hospital discharge abstracts using data from 6 countries.
Quan H, Li B, Couris CM, Fushimi K, Graham P, Hider P, Januel JM, Sundararajan V., Am. J. Epidemiol. 173(6), 2011
PMID: 21330339
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.
Burgard P, Bremer HJ, Buhrdel P, Clemens PC, Monch E, Przyrembel H, Trefz FK, Ullrich K., Eur. J. Pediatr. 158(1), 1999
PMID: 9950308
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Burton BK, Grange DK, Milanowski A, Vockley G, Feillet F, Crombez EA, Abadie V, Harding CO, Cederbaum S, Dobbelaere D, Smith A, Dorenbaum A., J. Inherit. Metab. Dis. 30(5), 2007
PMID: 17846916
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.
Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB; Sapropterin Study Group, Burton BK, Crombez EA, Grange DK, Gruskin DJ, Harmatz P, Hennermann JB, Levy HL, Lipson MH, Longo N, Casanova MM, Milanowski A, Randolph LM, Trefz F, Vockley J, Whitley CB, Wolff JA., J. Pediatr. 154(5), 2009
PMID: 19261295
Quality of life in noncompliant adults with phenylketonuria after resumption of the diet.
Bik-Multanowski M, Didycz B, Mozrzymas R, Nowacka M, Kaluzny L, Cichy W, Schneiberg B, Amilkiewicz J, Bilar A, Gizewska M, Lange A, Starostecka E, Chrobot A, Wojcicka-Bartlomiejczyk BI, Milanowski A., J. Inherit. Metab. Dis. 31 Suppl 2(), 2008
PMID: 18956249
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).
Thomas J, Levy H, Amato S, Vockley J, Zori R, Dimmock D, Harding CO, Bilder DA, Weng HH, Olbertz J, Merilainen M, Jiang J, Larimore K, Gupta S, Gu Z, Northrup H; PRISM investigators., Mol. Genet. Metab. 124(1), 2018
PMID: 29653686

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