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Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias.

Abstract Laboratory diagnosis of erythropoietic protoporphyria (EPP) requires a marked increase in total erythrocyte protoporphyrin (300-5000 μg/dL erythrocytes, reference interval <80 μg/dL) and a predominance (85%-100%) of metal-free protoporphyrin [normal, mostly zinc protoporphyrin (reference intervals for the zinc protoporphyrin proportion have not been established)]; plasma porphyrins are not always increased. X-linked protoporphyria (XLP) causes a similar increase in total erythrocyte protoporphyrin with a lower fraction of metal-free protoporphyrin (50%-85% of the total).
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title clinical chemistry
Publication Year Start

 



PMID- 26482161
OWN - NLM
STAT- MEDLINE
DCOM- 20160309
LR  - 20161201
IS  - 1530-8561 (Electronic)
IS  - 0009-9147 (Linking)
VI  - 61
IP  - 12
DP  - 2015 Dec
TI  - Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring
      of Protoporphyrias.
PG  - 1453-6
LID - 10.1373/clinchem.2015.245456 [doi]
AB  - BACKGROUND: Laboratory diagnosis of erythropoietic protoporphyria (EPP) requires 
      a marked increase in total erythrocyte protoporphyrin (300-5000 mug/dL
      erythrocytes, reference interval &lt;80 mug/dL) and a predominance (85%-100%) of
      metal-free protoporphyrin [normal, mostly zinc protoporphyrin (reference
      intervals for the zinc protoporphyrin proportion have not been established)];
      plasma porphyrins are not always increased. X-linked protoporphyria (XLP) causes 
      a similar increase in total erythrocyte protoporphyrin with a lower fraction of
      metal-free protoporphyrin (50%-85% of the total). CONTENT: In studying more than 
      180 patients with EPP and XLP, the Porphyrias Consortium found that erythrocyte
      protoporphyrin concentrations for some patients were much higher (4.3- to
      46.7-fold) than indicated by previous reports provided by these patients. The
      discrepant earlier reports, which sometimes caused the diagnosis to be missed
      initially, were from laboratories that measure protoporphyrin only by
      hematofluorometry, which is intended primarily to screen for lead poisoning.
      However, the instrument can calculate results on the basis of assumed hematocrits
      and reports results as "free" and "zinc" protoporphyrin (with different reference
      intervals), implying separate measurements of metal-free and zinc protoporphyrin.
      Such misleading reports impair diagnosis and monitoring of patients with
      protoporphyria. SUMMARY: We suggest that laboratories should prioritize testing
      for EPP and XLP, because accurate measurement of erythrocyte total and metal-free
      protoporphyrin is essential for diagnosis and monitoring of these conditions, but
      less important for other disorders. Terms and abbreviations used in reporting
      erythrocyte protoporphyrin results should be accurately defined.
CI  - (c) 2015 American Association for Clinical Chemistry.
FAU - Gou, Eric W
AU  - Gou EW
AD  - University of Texas Medical Branch, Galveston, TX;
FAU - Balwani, Manisha
AU  - Balwani M
AD  - Icahn School of Medicine at Mt. Sinai, New York, NY;
FAU - Bissell, D Montgomery
AU  - Bissell DM
AD  - University of California at San Francisco, San Francisco, CA;
FAU - Bloomer, Joseph R
AU  - Bloomer JR
AD  - University of Alabama at Birmingham, Birmingham, AL;
FAU - Bonkovsky, Herbert L
AU  - Bonkovsky HL
AD  - Wake Forest University, Winston-Salem, NC;
FAU - Desnick, Robert J
AU  - Desnick RJ
AD  - Icahn School of Medicine at Mt. Sinai, New York, NY;
FAU - Naik, Hetanshi
AU  - Naik H
AD  - Icahn School of Medicine at Mt. Sinai, New York, NY;
FAU - Phillips, John D
AU  - Phillips JD
AD  - University of Utah, Salt Lake City, UT;
FAU - Singal, Ashwani K
AU  - Singal AK
AD  - University of Alabama at Birmingham, Birmingham, AL;
FAU - Wang, Bruce
AU  - Wang B
AD  - University of California at San Francisco, San Francisco, CA;
FAU - Keel, Sioban
AU  - Keel S
AD  - University of Washington, Seattle, WA.
FAU - Anderson, Karl E
AU  - Anderson KE
AD  - University of Texas Medical Branch, Galveston, TX; [email protected]
LA  - eng
GR  - K23 DK095946/DK/NIDDK NIH HHS/United States
GR  - P30 DK026743/DK/NIDDK NIH HHS/United States
GR  - U54 DK083909/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20151019
PL  - United States
TA  - Clin Chem
JT  - Clinical chemistry
JID - 9421549
RN  - 0 (Protoporphyrins)
RN  - 0 (Reagent Kits, Diagnostic)
RN  - 15442-64-5 (zinc protoporphyrin)
RN  - C2K325S808 (protoporphyrin IX)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Diagnosis, Differential
MH  - Erythrocytes/*chemistry
MH  - Female
MH  - Fluorometry/methods
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Lead Poisoning/blood/*diagnosis
MH  - Male
MH  - Porphyrias/blood/*diagnosis
MH  - Protoporphyria, Erythropoietic/blood/*diagnosis
MH  - Protoporphyrins/*blood
MH  - Reagent Kits, Diagnostic/standards
MH  - Reference Values
PMC - PMC4744648
MID - NIHMS754777
EDAT- 2015/10/21 06:00
MHDA- 2016/03/10 06:00
CRDT- 2015/10/21 06:00
PHST- 2015/06/21 00:00 [received]
PHST- 2015/08/31 00:00 [accepted]
PHST- 2015/10/21 06:00 [entrez]
PHST- 2015/10/21 06:00 [pubmed]
PHST- 2016/03/10 06:00 [medline]
AID - clinchem.2015.245456 [pii]
AID - 10.1373/clinchem.2015.245456 [doi]
PST - ppublish
SO  - Clin Chem. 2015 Dec;61(12):1453-6. doi: 10.1373/clinchem.2015.245456. Epub 2015
      Oct 19.