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Photodermatology, Photoimmunology &... Sep 2021Inherited genetic erythropoietic protoporphyria (EPP) is characterized by a photosensitive rash that emerges during infancy or early childhood. Acquired EPP can erupt at... (Review)
Review
BACKGROUND
Inherited genetic erythropoietic protoporphyria (EPP) is characterized by a photosensitive rash that emerges during infancy or early childhood. Acquired EPP can erupt at any age, even during adulthood, and is associated with hematological disorders. A third, less-studied type of EPP is also inherited but appears later in life (during adulthood).
PURPOSE
To evaluate the characteristics of inherited genetic late-onset (IGLO) EPP.
METHODS
A systematic comprehensive search of the literature was conducted using PubMed, Google Scholar, ScienceDirect, and clinicaltrials.gov databases. Studies describing patients with IGLO EPP were included. Additionally, we present an index case of a patient, treated at our clinic in whom inherited genetic EPP was diagnosed at age 21 years.
RESULTS
The search yielded 1514 citations. Five publications were eligible for review. Along with our case, 7 patients (4 males) were included in the analysis. Mean age at disease onset was 34.2 years (range 18-69, median 30). Most patients presented with mild pruritus and rash in a photosensitive distribution. Mean level of free erythrocyte protoporphyrin IX (FEP) was 8.6 μmol/L. A mutant ferrochelatase gene (FECH) in trans to a hypomorphic FECH allele was found in 3 of the 4 patients who underwent genetic testing.
CONCLUSION
We describe the distinct features of IGLO EPP. This work emphasizes that a diagnosis of inherited genetic EPP should not be ruled out in adults with new-onset photosensitive manifestations.
Topics: Adolescent; Adult; Aged; Alleles; Child, Preschool; Ferrochelatase; Humans; Male; Middle Aged; Mutation; Photosensitivity Disorders; Protoporphyria, Erythropoietic; Young Adult
PubMed: 33556208
DOI: 10.1111/phpp.12667 -
Obstetrics and Gynecology Jul 2020
PubMed: 32590716
DOI: 10.1097/AOG.0000000000003959 -
Clinica Chimica Acta; International... Jan 2019Objective interpretation of laboratory test results used to diagnose and monitor diabetes mellitus in part requires the application of biological variation data (BVD).... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Objective interpretation of laboratory test results used to diagnose and monitor diabetes mellitus in part requires the application of biological variation data (BVD). The quality of published BVD has been questioned. The aim of this study was to quality assess publications reporting BVD for diabetes-related analytes using the Biological Variation Data Critical Appraisal Checklist (BIVAC); to assess whether published BVD are fit for purpose and whether the study design and population attributes influence BVD estimates and to undertake a meta-analysis of the BVD from BIVAC-assessed publications.
METHODS
Publications reporting data for glucose, HbA, adiponectin, C-peptide, fructosamine, insulin like growth factor 1 (IGF-1), insulin like growth factor binding protein 3 (IGFBP-3), insulin, lactate and pyruvate were identified using a systematic literature search. These publications were assessed using the BIVAC, receiving grades A, B, C or D, where A is of highest quality. A meta-analysis of the BVD from the assessed studies utilised weightings based upon BIVAC grades and the width of the data confidence intervals to generate global BVD estimates.
RESULTS
BIVAC assessment of 47 publications delivered 1 A, 3 B, 39C and 4 D gradings. Publications relating to adiponectin, C-peptide, IGF-1, IGFBP-3, lactate and pyruvate were all assessed as grade C. Meta-analysis enabled global BV estimates for all analytes except pyruvate, lactate and fructosamine.
CONCLUSIONS
This study delivers updated and evidence-based BV estimates for diabetes-related analytes. There remains a need for delivery of new high-quality BV studies for several clinically important analytes.
Topics: Adiponectin; Blood Glucose; C-Peptide; Diabetes Mellitus; Fructosamine; Glycated Hemoglobin; Humans; Insulin; Insulin-Like Growth Factor Binding Protein 3; Insulin-Like Growth Factor I; Lactic Acid; Pyruvic Acid
PubMed: 30389455
DOI: 10.1016/j.cca.2018.10.031 -
Photodermatology, Photoimmunology &... Jan 2020Erythropoietic protoporphyria (EPP) is a semi-dominantly inherited porphyria presenting with photosensitivity during early childhood. Acquired EPP has been reported;...
BACKGROUND
Erythropoietic protoporphyria (EPP) is a semi-dominantly inherited porphyria presenting with photosensitivity during early childhood. Acquired EPP has been reported; however, data regarding this rare disorder are scarce.
PURPOSE
To evaluate the characteristics of acquired EPP.
METHODS
A comprehensive search of PubMed, Google Scholar, ScienceDirect, and clinicaltrials.gov databases was performed by three reviewers. Studies describing patients with acquired EPP were included. Additionally, we present an index case of a 26-year-old patient who acquired clinically and biochemically typical EPP in association with myelodysplastic syndrome (MDS).
RESULTS
We included 20 case reports describing 20 patients. Most (80%) patients were male of mean age 58 ± 13 years. In all patients, acquired EPP was associated with hematological disease, most commonly MDS (85%) followed by myeloproliferative disease (10%). In 86% of cases, hematological disease led to abnormality or somatic mutation in chromosome 18q (the locus of the ferrochelatase gene). The mean erythrocyte protoporphyrin IX concentration was very high (4286 μg/dL). Most (90%) patients presented with photosensitivity, 20% experienced blistering, and 25% presented with hepatic insufficiency, both uncommon in EPP. In 55% of patients, hematological disease was diagnosed after occurrence of cutaneous symptoms. Beta-carotene led to partial control of symptoms in 5 patients and resolution in another patient. Azacitidine treatment of MDS led to resolution of cutaneous symptoms in three patients.
CONCLUSION
We present the distinct features of acquired EPP and highlight that any patient presenting with new-onset photosensitivity, irrespective of age should be evaluated for porphyria.
Topics: Adult; Aged; Azacitidine; Chromosomes, Human, Pair 18; Erythrocytes; Female; Ferrochelatase; Genetic Loci; Humans; Male; Middle Aged; Mutation; Myelodysplastic Syndromes; Photosensitivity Disorders; Protoporphyria, Erythropoietic; Protoporphyrins; beta Carotene
PubMed: 31374130
DOI: 10.1111/phpp.12501 -
Cancers Feb 2023We thank Dr. Lissing and colleagues for providing us with these helpful comments [...].
We thank Dr. Lissing and colleagues for providing us with these helpful comments [...].
PubMed: 36831530
DOI: 10.3390/cancers15041187 -
Cancers Jan 2023We read with interest this review by Ramai et al. [...].
We read with interest this review by Ramai et al. [...].
PubMed: 36765753
DOI: 10.3390/cancers15030795 -
Clinica Chimica Acta; International... Aug 2019Biological variation (BV) data can be used to set analytical performance specifications (APS) for lipid assays. Poor performance will impact upon the efficacy of...
Biological variation data for lipid cardiovascular risk assessment biomarkers. A systematic review applying the biological variation data critical appraisal checklist (BIVAC).
BACKGROUND
Biological variation (BV) data can be used to set analytical performance specifications (APS) for lipid assays. Poor performance will impact upon the efficacy of international guidelines for cardiovascular risk assessment (CVR) and relevant clinical decision limits. This systematic review applies the Biological Variation Data Critical Appraisal Checklist (BIVAC) to published studies of BV of CVR biomarkers enabling metanalysis of the data.
METHODS
Studies of BV of total cholesterol, HDL-cholesterol, LDL-cholesterol, triglycerides and apolipoproteins A and B, retrieved using a systematic literature search, were evaluated and graded using the BIVAC. Meta-analysis of CV and CV estimates were performed utilizing weightings based upon BIVAC grades and the width of the data confidence intervals.
RESULTS
Applying the BIVAC, ten publications were graded as D, 43 as C, 5 as B and 1 as A (fully compliant). A total of 196 CV and 87 CV estimates were available for the different lipid measurands. The meta-analysis-derived BV data estimates were generally concordant with those in the online 2014 BV database.
CONCLUSIONS
Application of BIVAC identifies BV data suitable for many important applications including setting APS. Additionally, this review identifies a need for new BIVAC compliant studies to deliver BV reference data in different subpopulations.
Topics: Biomarkers; Cardiovascular Diseases; Checklist; Humans; Lipids; Risk Assessment
PubMed: 31103621
DOI: 10.1016/j.cca.2019.05.013