Literature DB >> 26224896

Regional Variation in Analytical Techniques used in the Diagnosis and Monitoring of Porphyria: a Case for Harmonisation?

Christiaan W Sies1, Virginia Cronin2, Christopher M Florkowski1, Jan Gill3, Janine Grant2, Victor Poulos4, John Zoanetti5.   

Abstract

BACKGROUND: The Royal College of Pathologists of Australasia (RCPA) Porphyrin Quality Assurance Program assesses the measurement of urine, faecal, plasma and whole blood porphyrins and their components plus urinary porphobilinogen and delta aminolaevulinic acid and has laboratories enrolled from around the world. It was observed that there was a wide scatter in results submitted to some subsections of the program.
METHODS: A detailed questionnaire covering the analytical techniques used in the diagnosis of porphyria was sent to all laboratories enrolled in the RCPA Porphyrin Quality Assurance Program. Additionally, self-enrolment data over a five year period was examined for trends/changes in standardisation, reagent sources and analytical technique.
RESULTS: Twenty of the 45 laboratories enrolled in the Porphyrin Quality Assurance Program completed the survey, providing a snapshot of the analytical techniques used world-wide. Post survey self enrolment data indicated only little or no noticeable changes to analytical standardisation of techniques despite the continual lack of agreement of results in subsections of the External Quality Assurance program.
CONCLUSIONS: While some aspects of porphyria testing are relatively consistent between laboratories, other diagnostic techniques vary widely. A wide variety of individualised reference intervals and reporting techniques is currently in use world-wide. While most of the participants in the survey are regional reference centres specialising in the diagnosis of porphyria and, as such, their diagnostic capability is not in question, international guidelines or global harmonisation of analytical techniques should allow better inter-laboratory comparisons to be made, ultimately improving diagnostic accuracy.

Entities:  

Year:  2015        PMID: 26224896      PMCID: PMC4504156     

Source DB:  PubMed          Journal:  Clin Biochem Rev        ISSN: 0159-8090


  12 in total

Review 1.  Diagnosis and management of porphyria.

Authors:  H Thadani; A Deacon; T Peters
Journal:  BMJ       Date:  2000-06-17

Review 2.  ACP Best Practice No 165: front line tests for the investigation of suspected porphyria.

Authors:  A C Deacon; G H Elder
Journal:  J Clin Pathol       Date:  2001-07       Impact factor: 3.411

3.  European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program.

Authors:  Aasne K Aarsand; Jørild H Villanger; Egil Støle; Jean-Charles Deybach; Joanne Marsden; Jordi To-Figueras; Mike Badminton; George H Elder; Sverre Sandberg
Journal:  Clin Chem       Date:  2011-09-21       Impact factor: 8.327

Review 4.  Porphyrias.

Authors:  Raili Kauppinen
Journal:  Lancet       Date:  2005 Jan 15-21       Impact factor: 79.321

Review 5.  Laboratory investigation of the porphyrias.

Authors:  G H Elder; S G Smith; S J Smyth
Journal:  Ann Clin Biochem       Date:  1990-09       Impact factor: 2.057

Review 6.  The diagnosis and follow-up of porphyria.

Authors:  S Ratnaike; D Blake
Journal:  Pathology       Date:  1995-04       Impact factor: 5.306

7.  Rapid and accurate random urinary porphyrin quantitation.

Authors:  S B Boynton; K S Roth
Journal:  Clin Chim Acta       Date:  1994-04       Impact factor: 3.786

8.  Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria.

Authors:  Aasne K Aarsand; Per Hyltoft Petersen; Sverre Sandberg
Journal:  Clin Chem       Date:  2006-04       Impact factor: 8.327

9.  Rapid procedure for fecal porphyrin assay.

Authors:  W H Lockwood; V Poulos; E Rossi; D H Curnow
Journal:  Clin Chem       Date:  1985-07       Impact factor: 8.327

10.  Patterns of porphyrin excretion in feces as determined by liquid chromatography; reference values and the effect of flora suppression.

Authors:  G J Beukeveld; B G Wolthers; J J van Saene; T H de Haan; L W de Ruyter-Buitenhuis; R H van Saene
Journal:  Clin Chem       Date:  1987-12       Impact factor: 8.327

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