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Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients.
Medicine (Baltimore). 2010 Mar; 89(2):69-74.M

Abstract

Porphyria cutanea tarda is the most frequent porphyria and occurs in both sporadic and familial forms. We conducted the current study in a series of 152 consecutive patients with porphyria cutanea tarda attending the Porphyria Unit of the Hospital Clinic of Barcelona, Spain, to update the clinical manifestations of the disease and to study the sex differences, the proportion of familial forms, and the role of different risk factors in this population. Patients were classified as familial and sporadic cases according to erythrocyte uroporphyrinogen-decarboxylase activity and uroporphyrinogen-decarboxylase genotyping. In our cohort, skin fragility and blisters on the hands were the most frequent clinical manifestations. Women more frequently had facial hypertrichosis (84.8%; p = 0.004), affected areas other than the hands and face (33.3%; p = 0.008), and pruritus (27.3%; p = 0.041) compared with men. Of our patients, 11.8% did not present the typical clinical onset of the disease, with facial hypertrichosis and hyperpigmentation the more frequent complaints in these cases. Analysis of risk factors showed a high prevalence of hepatitis C virus infection (65.8%) and alcohol abuse (59.9%), both being more frequent in men (p < 0.001). Hepatitis C virus infection was the only risk factor that showed differences between the sporadic and familial forms in the logistic regression model (odds ratio, 0.05; 95% confidence interval, 0.006-0.46). In conclusion, atypical forms of presentation of porphyria cutanea tarda should be considered in order to prevent delayed diagnosis. We note the sustained role of hepatitis C virus infection in the precipitation of sporadic porphyria cutanea tarda. Therefore, in countries with a high prevalence of hepatitis C virus infection, the absence of such infection in a patient with porphyria cutanea tarda may suggest a possible familial case.

Authors+Show Affiliations

Department of Dermatology, Hospital Clinic, Universitat de Barcelona, 170 Villarroel Street, 08036. Barcelona, Spain. carlosmunozsantos@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20517178

Citation

Muñoz-Santos, Carlos, et al. "Familial and Sporadic Porphyria Cutanea Tarda: Clinical and Biochemical Features and Risk Factors in 152 Patients." Medicine, vol. 89, no. 2, 2010, pp. 69-74.
Muñoz-Santos C, Guilabert A, Moreno N, et al. Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. Medicine (Baltimore). 2010;89(2):69-74.
Muñoz-Santos, C., Guilabert, A., Moreno, N., To-Figueras, J., Badenas, C., Darwich, E., & Herrero, C. (2010). Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. Medicine, 89(2), 69-74. https://doi.org/10.1097/MD.0b013e3181d50928
Muñoz-Santos C, et al. Familial and Sporadic Porphyria Cutanea Tarda: Clinical and Biochemical Features and Risk Factors in 152 Patients. Medicine (Baltimore). 2010;89(2):69-74. PubMed PMID: 20517178.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. AU - Muñoz-Santos,Carlos, AU - Guilabert,Antonio, AU - Moreno,Nemesio, AU - To-Figueras,Jordi, AU - Badenas,Celia, AU - Darwich,Esteve, AU - Herrero,Carmen, PY - 2010/6/3/entrez PY - 2010/6/3/pubmed PY - 2010/6/22/medline SP - 69 EP - 74 JF - Medicine JO - Medicine (Baltimore) VL - 89 IS - 2 N2 - Porphyria cutanea tarda is the most frequent porphyria and occurs in both sporadic and familial forms. We conducted the current study in a series of 152 consecutive patients with porphyria cutanea tarda attending the Porphyria Unit of the Hospital Clinic of Barcelona, Spain, to update the clinical manifestations of the disease and to study the sex differences, the proportion of familial forms, and the role of different risk factors in this population. Patients were classified as familial and sporadic cases according to erythrocyte uroporphyrinogen-decarboxylase activity and uroporphyrinogen-decarboxylase genotyping. In our cohort, skin fragility and blisters on the hands were the most frequent clinical manifestations. Women more frequently had facial hypertrichosis (84.8%; p = 0.004), affected areas other than the hands and face (33.3%; p = 0.008), and pruritus (27.3%; p = 0.041) compared with men. Of our patients, 11.8% did not present the typical clinical onset of the disease, with facial hypertrichosis and hyperpigmentation the more frequent complaints in these cases. Analysis of risk factors showed a high prevalence of hepatitis C virus infection (65.8%) and alcohol abuse (59.9%), both being more frequent in men (p < 0.001). Hepatitis C virus infection was the only risk factor that showed differences between the sporadic and familial forms in the logistic regression model (odds ratio, 0.05; 95% confidence interval, 0.006-0.46). In conclusion, atypical forms of presentation of porphyria cutanea tarda should be considered in order to prevent delayed diagnosis. We note the sustained role of hepatitis C virus infection in the precipitation of sporadic porphyria cutanea tarda. Therefore, in countries with a high prevalence of hepatitis C virus infection, the absence of such infection in a patient with porphyria cutanea tarda may suggest a possible familial case. SN - 1536-5964 UR - https://www.unboundmedicine.com/medline/citation/20517178/Familial_and_sporadic_porphyria_cutanea_tarda:_clinical_and_biochemical_features_and_risk_factors_in_152_patients_ L2 - http://dx.doi.org/10.1097/MD.0b013e3181d50928 DB - PRIME DP - Unbound Medicine ER -