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Porphyria Acute Testing Algorithm

The document outlines a testing algorithm for diagnosing acute porphyria, detailing symptoms and potential types such as Acute Intermittent Porphyria and Variegate Porphyria. It describes various laboratory tests to differentiate between conditions and the significance of sample collection timing. The algorithm emphasizes the importance of family studies and genetic testing for accurate diagnosis.

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4 views1 page

Porphyria Acute Testing Algorithm

The document outlines a testing algorithm for diagnosing acute porphyria, detailing symptoms and potential types such as Acute Intermittent Porphyria and Variegate Porphyria. It describes various laboratory tests to differentiate between conditions and the significance of sample collection timing. The algorithm emphasizes the importance of family studies and genetic testing for accurate diagnosis.

Uploaded by

maged
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

Porphyria (Acute) Testing Algorithm

Symptoms:
■ Neurovisceral attacks (abdominal pain, neuropathy, psychiatric symptoms)

■ Tachycardia and hypertension

Possible acute porphyria:


■ Acute intermittent porphyria (AIP)

■ Variegate porphyria (VP)a

■ Hereditary coproporphyria (HCP)b

■ Aminolevulinic acid dehydratase deficiency porphyria (ADP)

Excludes acute
YES
porphyrias
■ PQNRU / Porphyrins, Quantitative, Normal results-were samples
Isolated ALA increase Random, Urinec collected during an acute episode?
Includes porphobilinogen NO
■ PBALP / Porphobilinogen and
To differentiate ADP from tyrosinemia type I and heavy metal Retest during acute episode
Aminolevulinic Acid, Plasmad
intoxication order:
■ ALAD / Aminolevulinic Acid Dehydratase, Whole Bloode

■ OAU / Organic Acids Screen, Random, Urine

■ HMUCR / Heavy Metal/Creatinine Ratio, with Reflex, Random, Urine


Increased porphobilinogen, possible increases
OR in uroporphyrin, coproporphyrin, and/or ALA
■ HMDB / Heavy Metals Screen with Demographics, Blood

Decreased ALAD activity Normal ALAD activity


Perform:
■ PBGD_ / Porphobilinogen Deaminase, Whole Blood f

■ FQPPS / Porphyrins, Feces


Confirms ADP Excludes ADP
a. 80% of patients with VP have
cutaneous symptoms
Decreased Increased coproporphyrin Increased coproporphyrin Normal PBGD activity and b. 20% of patients with HCP have
Consider CGPH / Custom Gene cutaneous symptoms
PBGD activity III/I ratio (<10) and III/I ratio (>10) and fecal porphyrin profile
Panel, Hereditary, Next-Generation c. Specimens collected during
protoporphyrin coproporphyrin III
Sequencing, Varies (ALAD Gene symptomatic period will be most
informative
List ID: IEMCP-D81317) or APGP /
Acute Porphyria Gene Panel, Varies d. Plasma specimen for those unable to
AIP – Family studies VP – Family studies HCP – Family studies ■ Excludes VP and HCP give urine
may be warranted may be warranted may be warranted ■ AIP not excludedg e. ALAD test is not useful for lead
intoxication cases
f. 5% of AIP patients have normal PBGD
activity in erythrocytes
Consider CGPH (HMBS Consider CGPH (PPOX Consider CGPH (CPOX Consider APGP
g. Specimens collected during
Gene List ID: IEMCP- Gene List ID: IEMCP- Gene List ID: IEMCP- asymptomatic period will be most
WCJKC9) or APGP XD2GBN) or APGP BQFCG2) or APGP informative.

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 05/2024

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