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. 2010 Mar;8(3):297-302, 302.e1.
doi: 10.1016/j.cgh.2009.11.017. Epub 2009 Nov 27.

Associations among behavior-related susceptibility factors in porphyria cutanea tarda

Sajid Jalil  1 , James J Grady, Chul Lee, Karl E Anderson
Affiliations

Associations among behavior-related susceptibility factors in porphyria cutanea tarda

Sajid Jalil et al. Clin Gastroenterol Hepatol. 2010 Mar.

Abstract

Background & aims: Porphyria cutanea tarda (PCT) is the most common of the human porphyrias and results from an acquired deficiency of hepatic uroporphyrinogen decarboxylase (UROD). Some susceptibility factors have been identified; we examined associations among multiple factors in a large cohort of patients.

Methods: Multiple known or suspected susceptibility factors and demographic and clinical features of 143 patients (mean age 52 years, 66% male, 88% Caucasian) with documented PCT (mean onset at 41 +/- 8.8 years) were tabulated; associations were examined by contingency tables, classification and regression tree (CART) analysis, and logistic regression.

Results: The most common susceptibility factors for PCT were ethanol use (87%), smoking (81%), chronic hepatitis C virus (HCV) infection (69%), and HFE mutations (53%; 6% C282Y/C282Y and 8% C282Y/H63D). Of those who underwent hepatic biopsy or ultrasound, 56% had evidence of hepatic steatosis. Of those with PCT, 66% of females took estrogen, 8% were diabetic, 13% had human immunodeficiency virus (HIV) infection, and 17% had inherited uroporphyrinogen decarboxylase (UROD) deficiency (determined by low erythrocyte UROD activity). Three or more susceptibility factors were identified in 70% of patients. HCV infection in patients with PCT was significantly associated with other behavior-related factors such as ethanol use (odds ratio [OR], 6.3) and smoking (OR, 11.9).

Conclusions: Susceptibility factors for PCT were similar to previous studies; most patients had 3 or more susceptibility factors. Associations between PCT and HCV, ethanol or smoking could be accounted for by a history of multiple substance abuse; other factors are distributed more randomly among patients.

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Figures

Figure1
Figure1
Varying numbers of coexisting susceptibility factors in 143 patients with porphyria cutanea tarda. Patients who were assessed for all the susceptibility factors listed in Table 1 (solid portions of bars) had more identified factors than those who were incompletely assessed (open portions of bars).
Figure 2
Figure 2
Classification and regression tree (CART) exploration of associations among susceptibility factors in porphyria cutanea tarda. HCV infection was used as the target variable and the predictive contributions of smoking, alcohol use and HIV infection are shown.
Figure 3
Figure 3
Frequencies of susceptibility factors related to behavior among 139 patients with porphyria cutanea tarda. Risk factors both related and unrelated to behavior were present in 70 patients (solid bar), only behavior-related risk factors (alcohol use, smoking, hepatitis C and HIV infection) in 63 (gray bar), and only those not related to behavior (HFE mutations, decreased erythrocyte UROD activity and estrogen use) in 6 (open bar).
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