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Open Access Letter to the Editor

Clinical pathways for inborn errors of metabolism: warranted and feasible

Serwet Demirdas1, Imke N van Kessel1, Marjolein J Korndewal1, Carla EM Hollak2, Hanka Meutgeert3, Anja Klaren3, Margreet van Rijn4, Francjan J van Spronsen4, Annet M Bosch1* and Dutch working Group

Author Affiliations

1 Department of Pediatrics, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

2 Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

3 The Dutch Society for Adults and Children with an Inborn Error of Metabolism (VKS), Zwolle, The Netherlands

4 Division of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

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Orphanet Journal of Rare Diseases 2013, 8:37  doi:10.1186/1750-1172-8-37

The electronic version of this article is the complete one and can be found online at: http://www.ojrd.com/content/8/1/37


Received:10 December 2012
Accepted:21 February 2013
Published:25 February 2013

© 2013 Demirdas et al; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion. Clinical pathways are multidisciplinary tools to organise care which provide a clear route to the best care and improve communication. In 2010 the Dutch Society for Children and Adults with an Inborn Error of Metabolism (VKS) initiated development of clinical pathways for inborn errors of metabolism. In this letter to the editor we describe why it is warranted to develop clinical pathways for IEMs and shortly discuss the process of development for these pathways in the Netherlands.

Keywords:
Phenylketonuria; PKU; Clinical pathway

Introduction

Inborn errors of metabolism (IEMs) are known for their low prevalence and chronic need of medical care. Care provided is multidisciplinary and often based on expert opinion. In recent years, excellent guidelines on metabolic disorders have been developed and published [1-5]. In 2010 the Dutch Society for Children and Adults with an Inborn Error of Metabolism (VKS) initiated development of clinical pathways for 20 IEMs, with separate versions for professionals and patients. This letter discusses why clinical pathways for IEMs are warranted and feasible.

Background

Clinical pathways are a tool for multidisciplinary decision making and organization of care processes for well defined groups of patients [6]. Often they are based on guidelines [7-9]. Pathways optimize clinical outcomes whilst maximizing clinical efficiency [10]. For example, they describe which actions should be taken, when, and by whom [11]. It has been demonstrated that use of pathways decreases duration of inpatient care, increases interdisciplinary communication, enhances patient knowledge and self awareness, leads to significant better coordination of care and reduces costs [7,9,12-14].

Clinical pathways can be valuable for patients with IEMs. Firstly, low prevalence of IEMs leads to limited knowledge about best practice. In the absence of robust evidence, expert opinion and outcomes of clinical studies can support the establishment of a clinical pathway [12]. When frequently updated, it presents a reference to latest state of art in care [15,16] and provides guidance for further research. Secondly, a multidisciplinary approach is of great importance. The complexity of multidisciplinary care may lead to delay of care, overuse of diagnostics or therapy and miscommunication between caregivers [7]. Multidisciplinary cooperation using a clinical pathway will improve communication and provide a clear route to best care, based on consensus. Thirdly, clinical pathways may improve care for patients when used in local hospitals, while the physicians in academic referral centers can serve as consultants. Finally, clinical pathways become more important as transition to adult care increases [17], leading to more active participation of patients in their treatment.

The design of clinical pathways for inborn errors of metabolism

Design and consensus

The initiative for development of clinical pathways was taken by the patient society (VKS). Dutch expert pediatricians, internists and dieticians for each specific disorder in cooperation with the VKS created the pathways. The final version was discussed in a national consensus meeting. Separate versions were made for professionals and for patients, presenting the Dutch consensus. All advice is substantiated by a level of evidence [18], according to the scoring system of the Dutch Institute for Healthcare Improvement CBO. Level 1: 1 systematic review or 2 independent high quality randomized controlled trials (RCTs); level 2: 2 independent moderate RCTs or comparative trials; Level 3: 1 RCT, comparative or non-comparative trial; Level 4: expert opinion [19].

Clinical pathway for professionals

The first section of the version for professionals comprises a general introduction and concise strategy for diagnostics and treatment. Second and third sections contain more specific guidance for treatment and follow up in childhood and adulthood.

The pathways include responsibilities for each professional, advised frequency for outpatient visits and laboratory studies, and recommendations on follow up of known complications of the disorder. In the pediatric pathway one chapter is dedicated to transition from pediatric to adult care.

In the pathways all advice is substantiated by a level of evidence. Evidence levels 3 and 4 were common. Level 1 was rarely available and mostly resulted from trials evaluating a novel pharmaceutical agent. Most advice was therefore founded on expert opinion and trials of moderate quality.

Clinical pathway for patients

The first section of the patient version contains general information on the disorder and its treatment. The second and third sections address treatment and follow up in childhood and adulthood. The purpose of the pathway for patients is to provide insight into current consensus of best practice and an overview of all professionals involved. It provides clarity on responsibilities, including that of the patient/parents who take a prominent place in the treatment team.

For active patient participation, patients must be provided evidence based information in an appropriate and comprehensible form [20]. The fact that the patient versions are based on the professional pathway ensures that they are in accordance with available evidence, and comprehensibility is secured by cooperation with the VKS.

We demonstrated that development of clinical pathways for IEMs is feasible and we were able to reach national consensus. At this time, Dutch pathways are publically available for 20 diseases including urea cycle defects, organic acidurias, mitochondrial fatty acid oxidation disorders, galactosemia, phenylketonuria, tyrosinemia, glycogen storage disorders, congenital disorder of glycosylation type 1a, and Niemann Pick type c [21].

Abbreviations

VKS: Dutch society for children and adults with an inborn error of metabolism; IEMs: Inborn errors of metabolism; PKU: Phenylketonuria.

Competing interests

None of the authors, or any of the members in the working group, have financial or non-financial competing interests to declare.

Authors’ contributions

SD has made substantial contributions to conception and design, has been involved in drafting of the manuscript and has given final approval of the version to be published. INK has made substantial contributions to conception and design, has been involved in drafting of the manuscript and has given final approval of the version to be published. MJK has made substantial contributions to conception and design, has been involved in drafting of the manuscript and has given final approval of the version to be published. CEMH has been involved in drafting of the manuscript and has given final approval of the version to be published. HM has made substantial contributions to conception and design, has been involved in drafting of the manuscript and has given final approval of the version to be published. AK has been involved in drafting of the manuscript and has given final approval of the version to be published. MR has been involved in drafting of the manuscript and has given final approval of the version to be published. FJS has been involved in drafting of the manuscript and has given final approval of the version to be published. AMB has made substantial contributions to conception and design, has been involved in drafting of the manuscript and has given final approval of the version to be published. All members of the The Dutch working Group on clinical pathways for inborn errors of metabolism have given final approval of the version to be published.

Authors’ information

Dutch working Group on clinical pathways for inborn errors of metabolism.

Folkert. W. Asselbergs1, Christiaan Blank2, Terry G.J. Derks 8, Eugène F. Diekman2, Monique E. Dijsselhof6, Marc Engelen7, Peter M. van Hasselt2, Nienke M. ter Horst6, Dorine A.M. van den Hurk3, Mirian C.H. Janssen9, Francois P.J. Karstens11, Elles van der Louw12, Eva Morava10, Joost Nicolai 14, Ludo van de Pol2, Bwee Tien Poll-The 5, Estela Rubio-Gozalbo15, G. Peter A. Smit8, Jessica de Ruijter5, Corrie Timmer3, Catharina M.L. Touw 8, Gepke Visser2, Harold W. de Valk4, Frits A. Wijburg5, Monique Williams13.

Departments of Cardiology1, Pediatrics2, Dietetics3 and Internal Medicine 4, University Medical Center, Utrecht, The Netherlands.

Department of Pediatrics5, Dietetics6, Neurology7, Emma Children’s Hospital, Academic Medical Center, Amsterdam, The Netherlands.

Section of metabolic diseases8, Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Department of Internal Medicine9 and Pediatrics10, Unitversity Medical Center st Radboud, Nijmegen.

Department of Internal Medicine11, Dietetics12 and Pediatrics13, Erasmus MC, Rotterdam, The Netherlands.

Department of Neurology14 and Pediatrics15, University Hospital Maastricht, Maastricht, The Netherlands.

References

  1. Zand DJ, Brown KM, Lichter-Konecki U, Campbell JK, Salehi V, Chamberlain JM: Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism.

    Pediatrics 2008, 122:1191-1195. PubMed Abstract | Publisher Full Text OpenURL

  2. Kolker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, Garcia CA, et al.: Diagnosis and management of glutaric aciduria type I–revised recommendations.

    J Inherit Metab Dis 2011, 34:677-694. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  3. Haeberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Sanjurjo CP, Santer R, et al.: Suggested Guidelines for the Diagnosis and Management of Urea Cycle Disorders.

    Orphanet J Rare Dis 2012, 7:32. PubMed Abstract | BioMed Central Full Text | PubMed Central Full Text OpenURL

  4. Haute Autorité de Santé; Phénylcétonurie; Protocole national de diagnostic et de soins.

    http://www.has-sante.fr/portail/upload/docs/application/pdf/2010-05/ald_17_pnds_pcu_web.pdf webcite

    PubMed Abstract | Publisher Full Text OpenURL

  5. The National Society for Phenylketonuria (United Kingdom) Limited; Management of PKU. A concensus document for the diagnosis and management of children, adolescents and adults with phenylketonuria.

    http://www.nspku.org/sites/default/files/publications/Management%20of%20PKU.pdf webcite

    PubMed Abstract | Publisher Full Text OpenURL

  6. European Pathway Association; Clinical/care pathways.

    http://www.e-p-a.org/000000979b08f9803/index.html webcite

    PubMed Abstract | Publisher Full Text OpenURL

  7. Panella M, Marchisio S, Di SF: Reducing clinical variations with clinical pathways: do pathways work?

    Int J Qual Health Care 2003, 15:509-521. PubMed Abstract | Publisher Full Text OpenURL

  8. Every NR, Hochman J, Becker R, Kopecky S, Cannon CP: Critical pathways: a review. Committee on Acute Cardiac Care, Council on Clinical Cardiology, American Heart Association.

    Circulation 2000, 101:461-465. PubMed Abstract | Publisher Full Text OpenURL

  9. Hauck LD, Adler LM, Mulla ZD: Clinical pathway care improves outcomes among patients hospitalized for community-acquired pneumonia.

    Ann Epidemiol 2004, 14:669-675. PubMed Abstract | Publisher Full Text OpenURL

  10. Rotter T, Kinsman L, James E, Machotta A, Willis J, Snow P, Kugler J: The effects of clinical pathways on professional practice, patient outcomes, length of stay, and hospital costs: Cochrane systematic review and meta-analysis.

    Eval Health Prof 2012, 35:3-27. PubMed Abstract | Publisher Full Text OpenURL

  11. Campbell H, Hotchkiss R, Bradshaw N, Porteous M: Integrated care pathways.

    BMJ 1998, 316:133-137. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  12. Vanhaecht K, De WK, Panella M, Sermeus W: Do pathways lead to better organized care processes?

    J Eval Clin Pract 2009, 15:782-788. PubMed Abstract | Publisher Full Text OpenURL

  13. Banasiak NC, Meadows-Oliver M: Inpatient asthma clinical pathways for the pediatric patient: an integrative review of the literature.

    Pediatr Nurs 2004, 30:447-450. PubMed Abstract OpenURL

  14. Neubauer MA, Hoverman JR, Kolodziej M, Reisman L, Gruschkus SK, Hoang S, Alva AA, McArthur M, Forsyth M, Rothermel T, et al.: Cost effectiveness of evidence-based treatment guidelines for the treatment of non-small-cell lung cancer in the community setting.

    J Oncol Pract 2010, 6:12-18. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  15. De BL, Depreitere R, De WK, Vanhaecht K, Vlayen J, Sermeus W: Defining pathways.

    J Nurs Manag 2006, 14:553-563. PubMed Abstract | Publisher Full Text OpenURL

  16. Deneckere S, Euwema M, Van HP, Lodewijckx C, Panella M, Sermeus W, Vanhaecht K: Care pathways lead to better teamwork: results of a systematic review.

    Soc Sci Med 2012, 75:264-268. PubMed Abstract | Publisher Full Text OpenURL

  17. Van Spronsen FJ, Burgard P: The truth of treating patients with phenylketonuria after childhood: the need for a new guideline.

    J Inherit Metab Dis 2008, 31:673-679. PubMed Abstract | Publisher Full Text OpenURL

  18. Bossard N, Boissel FH, Boissel JP: Level of evidence and therapeutic evaluation: need for more thoughts.

    Fundam Clin Pharmacol 2004, 18:365-372. PubMed Abstract | Publisher Full Text OpenURL

  19. Centraal BegeleidingsOrgaan (CBO); Evidence based guideline development.

    http://www.cbo.nl/thema/Richtlijnen/EBRO-handleiding/A-Levels-of-evidence/ webcite

    PubMed Abstract | Publisher Full Text OpenURL

  20. Coulter A: Evidence based patient information. is important, so there needs to be a national strategy to ensure it.

    BMJ 1998, 317:225-226. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  21. Volwassenen, Kinderen en Stofwisselingsziekten; Zorgpaden voor stofwisselingsziekten.

    http://www.stofwisselingsziekten.nl/ziekte_informatie/zorgpaden_voor_stofwisselingsziekten webcite

    OpenURL