Diagnosing Acute Porphyrias

Sandberg, Sverre; Elder, George H.

doi:10.1373/clinchem.2003.027623

Cited by 15 publications

(16 citation statements)

References 14 publications

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“…In a relevant clinical setting, some use the finding of increased concentrations of PBG per se to confirm the diagnosis of an acute attack (19,20 ). The European Porphyria Initiative (EPI) (3 ) and Sandberg and Elder (7 ) state that in an attack, the PBG concentration in urine is usually at least 10-fold higher than the upper reference limit, whereas other suggestions are a 2-to 4-fold increase in an individual (4 ) or a 20-to 200-fold increase compared with reference values (4,21 ) or the finding of increased concentrations of 88 -884 mol/L (22 ). Our data show that for, e.g., a patient with a urinary PBG baseline concentration of 5.0 mol/mmol creatinine, a change to a value between 2.5 and 7.5 mol/mmol creatinine (50%) in a short-term setting can be explained Clinical Chemistry 52, No.…”

Section: Discussionmentioning

confidence: 99%

Estimation and Application of Biological Variation of Urinary δ-Aminolevulinic Acid and Porphobilinogen in Healthy Individuals and in Patients with Acute Intermittent Porphyria

2006

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Background: Diagnosis of an attack of acute intermittent porphyria (AIP) is based on the demonstration of increased concentrations of porphobilinogen (PBG) and ␦-aminolevulinic acid (ALA) in urine, but many AIP patients also have high baseline concentrations in remission. The aim of this study was to estimate the biological variations of ALA, PBG, and porphyrins in healthy individuals and AIP patients to improve interpretation of test results. Methods: Fifteen healthy individuals and 15 AIP patients were included, and biological variations were calculated based on urine samples collected weekly for 10 consecutive weeks. For the AIP patients, long-term variations were also estimated based on 7 samples collected through a 2-year period. Results: The porphyrin variances were inhomogeneously distributed; biological variations of porphyrins were therefore not calculated. The within-subject biological variations of ALA and PBG were 16%-20% in the short-term settings and for PBG, 25% in the long-term setting, giving reference change values of ϳ50% and 70%, respectively. The probability of detecting a 100% real change in PBG was 97% in the short-term setting and 80% in the long-term setting. Conclusions: In an AIP patient, a 2-fold increase in PBG, independent of the baseline concentration, will be detected with a probability >80% and is most likely related to the patient's disease and not caused only by

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Section: Discussionmentioning

confidence: 99%

Estimation and Application of Biological Variation of Urinary δ-Aminolevulinic Acid and Porphobilinogen in Healthy Individuals and in Patients with Acute Intermittent Porphyria

2006

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“…The biochemical hallmark of an acute porphyria attack is the increase in urine excretion of PBG that increases to more than 10 times the normal reference range (0–1.5 µmol/mmol creatinine) during an attack 8. Following an attack, urine PBG excretion decreases slowly, particularly in attacks associated with AIP and it can be difficult to diagnose subsequent illness as reports suggest that concentrations can remain elevated for years in patients with AIP,9 – 11 although this is not well documented.…”

Section: Introductionmentioning

confidence: 99%

Urinary excretion of porphyrins, porphobilinogen and δ-aminolaevulinic acid following an attack of acute intermittent porphyria

Marsden

Rees

2013

J Clin Pathol

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“…Currently genetic analysis is considered the Fgold standard_. Therefore, the identification of the VP-causing mutation in a particular family is 100% sensitive and specific for that family (Sandberg and Elder 2004).…”

Section: Discussionmentioning

confidence: 99%

Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands

Bonnin¹,

Picornell

Orfila

et al. 2009

J of Inher Metab Disea

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Variegate porphyria (VP) (an autosomal dominant disease), is clinically characterized by skin photosensitivity and/or acute neurovisceral crises and biochemically by high levels of faecal protoporphyrin and coproporphyrin. It results from the partial deficiency of protoporphyrinogen oxidase (PPOX gene). Genetic heterogeneity has been reported in this gene, although no genotype-phenotype correlation has been evidenced. We have sequenced 27 members of a single large Majorcan family with several individuals that exhibit VP symptoms: two of the eight patients had only skin symptoms (25%), one patient had only acute visceral crises (12.5%), one patient had both manifestations (12.5%) and the rest were completely asymptomatic (50%). In eight individuals, a T>A transversion at the intron 6 consensus splicing site was found (IVS6+2T>A), but only four of them presented clinical symptoms. We have also detected four polymorphic positions, three non-coding and one non-synonymous coding: c.-414A>C; IVS2+121G>C; c.1188G>A and IVS12+34C>T. Although IVS12+34C>T change has been reported to cause VP, generalized linear model (GLM) analyses showed no significant association between these SNPs and phenotypic manifestations. Only three mtDNA haplogroups were detected in this family: H, K and U(5a1). Two of them are relatively common in Balearic Islands. Our family evidenced a positive correlation between the clinically overt VP and haplogroup H. Thus, it seems that, in this family, the haplogroup H could be involved in the expression of the disease. The GLM analyses evidenced an association between haplogroup H, mutation IVS6+2T>A and clinically overt variegate porphyria.

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Diagnosing Acute Porphyrias

Cited by 15 publications

References 14 publications

Estimation and Application of Biological Variation of Urinary δ-Aminolevulinic Acid and Porphobilinogen in Healthy Individuals and in Patients with Acute Intermittent Porphyria

Estimation and Application of Biological Variation of Urinary δ-Aminolevulinic Acid and Porphobilinogen in Healthy Individuals and in Patients with Acute Intermittent Porphyria

Urinary excretion of porphyrins, porphobilinogen and δ-aminolaevulinic acid following an attack of acute intermittent porphyria

Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands

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