Development of chronic hepatic porphyria (porphyria cutanea tarda) with inherited uroporphyrinogen decarboxylase deficiency under exposure to dioxin.

Abstract

Exposure to dioxin triggered a clinically manifest chronic hepatic porphyria (porphyria cutanea tarda) in two patients (brother and sister) with hereditary uroporphyrinogen decarboxylase deficiency. The patients showed a decrease of erythrocyte uroporphyrinogen decarboxylase activity to approximately 50% of controls even in reinvestigations after three years, whereas clinical symptoms and porphyrinuria had improved considerably. Only a subclinical phase of chronic hepatic porphyria persisted. Subnormal uroporphyrinogen decarboxylase activity could be determined in altogether nine family members. The remission of porphyria cutanea tarda into a subclinical phase occurred after chloroquine therapy. Subclinical phases of chronic hepatic porphyria (type A) in other family members remitted without special therapy. Among the 60 persons dioxin-exposed by the Seveso accident, a secondary coproporphyrinuria was found in 22% of examined patients with transition to a subclinical chronic hepatic porphyria in 5 cases. The changes had subsided completely after one year. A persistence of the transition state in 3 cases is probably due to alcohol influence. None of these cases developed a porphyria cutanea tarda. The investigations showed that a hereditary disposition is necessary for biochemical and clinical expression of chronic hepatic porphyria after a unique dioxin exposure. This is not given in the sporadic cases: after a unique dioxin exposure they indeed develop a symptomatic disturbance of porphyrin metabolism but not a clinically relevant chronic hepatic porphyria. We conclude that a unique acute exposure to dioxin can trigger the chronic hepatic porphyria disease process in persons with an underlying genetic abnormality of uroporphyrinogen decarboxylase.

• Authors: M Doss, H Sauer, R von Tiepermann, A M Colombi
• Journal: The International journal of biochemistry (Int J Biochem) Vol. 16 Issue 4 Pg. 369-73 ( 1984) ISSN: 0020-711X [Print] England
• PMID: 6714509 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Dioxins
• Polychlorinated Dibenzodioxins
• Porphyrins
• Carboxy-Lyases
• Uroporphyrinogen Decarboxylase

Topics

• Adult
• Carboxy-Lyases (deficiency)
• Chronic Disease
• Dioxins (poisoning)
• Female
• Humans
• Liver Diseases (etiology)
• Male
• Middle Aged
• Occupational Diseases (chemically induced)
• Polychlorinated Dibenzodioxins (poisoning)
• Porphyrias (etiology)
• Porphyrins (urine)
• Uroporphyrinogen Decarboxylase (deficiency)