Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
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ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
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Advances in Clinical and Experimental Medicine

2016, vol. 25, nr 2, March-April, p. 361–368

doi: 10.17219/acem/58955

Publication type: review

Language: English

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Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria

Urszula Szlendak1,2,D,E,F, Ksenia Bykowska2,A,D,E,F, Agnieszka Lipniacka2,D,E,F

1 Department of Immunogenetics of the Institute of Haematology and Transfusion Medicine, Warszawa, Poland

2 Department of Haemostasis and Metabolic Disorders of the Institute of Haematology and Transfusion Medicine, Warszawa, Poland


Porphyrias are diverse disorders that arise from various inherited enzyme defects in the heme biosynthesis pathway, except for porphyria cutanea tarda (PCT), in which the enzyme deficiency in most cases is acquired. The biosynthetic blocks resulting from the defective enzymes are largely expressed either in the liver or bone marrow, the sites where the majority of heme is produced. Although the pathophysiologic mechanisms of the clinical manifestations of the porphyrias are not fully understood, two cardinal features prevail: skin photosensitivity and neurologic symptoms of intermittent autonomic neuropathy, acute neurovisceral attacks, and disorders of the nervous system. The primary diagnosis of the proband is based on biochemical testing, which is not always able to identify acute porphyrias, especially in asymptomatic family carriers when heme precursors and porphyrins excretion is normal, low-normal and high-reduced values of enzyme activity overlap, and hematological diseases responsible for abnormal blood cells distribution coexist. Molecular analysis of gene mutations responsible for each type of porphyria is the best diagnostic approach for symptomatic as well as presymptomatic gene carriers.

Key words

acute hepatic porphyrias, porphyria cutanea tarda, erythropoietic porphyrias

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