Porphyria cutanea tarda in a Swedish population: risk factors and complications.

There are varying reports on the prevalence of risk factors in porphyria cutanea tarda (PCT). We reviewed 84 patients with PCT in a restricted uptake area in Gothenburg, Sweden and evaluated different potential risk factors for the disease and complications. Besides a thorough medical history, the patients were investigated with urinary porphyrin analyses, transferrin saturation, ferritin and liver tests. Subsamples of patients were tested for antibodies to hepatitis C virus (n = 68), haemochromatosis gene mutations (n = 58) and with the oral glucose tolerance test (n = 31). We found a prevalence of about 1 patient with PCT in 10 000 inhabitants. Nineteen (23%) patients reported heredity for PCT. Identified risk factors were alcohol abuse (38% of male patients), oestrogen treatment (55% of female patients), anti-hepatitis C virus positivity (29% of male patients), diabetes (17%) or impaired glucose tolerance (45% of tested patients) and haemochromatosis gene mutations (57% of tested patients). All patients positive for anti-hepatitis C virus belonged to the non-hereditary group. During follow-up we observed a high incidence of stroke, no case of hepatocellular carcinoma and a normal life expectancy.

Serum organochlorines and urinary porphyrin pattern in a population highly exposed to hexachlorobenzene.

BACKGROUND: Porphyria cutanea tarda (PCT) is caused by hexachlorobenzene (HCB) in several species of laboratory mammals, but the human evidence is contradictory. In a study among adults of a population highly exposed to HCB (Flix, Catalonia, Spain), the prevalence of PCT was not increased. We aimed at analysing the association of individual urinary porphyrins with the serum concentrations of HCB and other organochlorine compounds in this highly exposed population. METHODS: A cross-sectional study on total porphyrins was carried out in 1994 on 604 inhabitants of the general population of Flix, older than 14 years. Of them, 241 subjects (comprising a random sample and the subgroup with the highest exposure) were included for the present study. The porphyrin profile was determined by high-pressure liquid chromatography. Serum concentrations of HCB, as well as common organochlorine compounds, were determined by gas chromatography coupled to electron capture detection. RESULTS: Coproporphyrin I (CPI) and coproporphyrin III (CPIII) were the major porphyrins excreted, while uroporphyrins I and III were only detected in 2% and 36% of the subjects respectively, and heptaporphyrins I and III in 1% and 6%, respectively. CPI and CPIII decreased with increasing HCB concentrations (p < 0.05). This negative association was not explained by age, alcohol, smoking, or other organochlorine compounds. No association was found between uroporphyrin I and III excretion, nor heptaporphyrin excretion, and HCB. CPIII increased with smoking (p < 0.05). CONCLUSION: HCB exposure in this highly exposed population did not increase urinary concentrations of individual porphyrins.

Abnormal uroporphyrin levels in chronic hepatitis C virus infection.

A strong association between hepatitis C virus (HCV) infection and porphyria cutanea tarda (PCT) has been observed, but the implications of the viral infection in the metabolism of porphyrins in patients without clinical manifestations of PCT are not known. The levels of porphyrin in plasma and uroporphyrin (URO) and coproporphyrin (COPRO) in 24-hour urine were measured in 156 patients with chronic HCV infection showing no clinical evidence of PCT. Levels of URO higher than the upper limit were observed in 35 of 156 patients (22.4%). The range and the mean values +/- standard deviation were 26-1,196 microg/24 hours and 82 +/- 204 microg/24 hours. Increased levels of COPRO and plasma porphyrin were observed in 12 of 156 patients (7.7%) and 2 of 156 patients (1.3%) respectively. There were no differences between patients with increased URO levels and patients with normal URO levels in terms of gender, age, risk factors for HCV infection, alcohol abuse, or hepatitis B viral infection. Transferrin saturation (p = 0.040), gamma glutamyl transpeptidase (p < 0.0001), aspartate aminotransferase (p = 0.006), and alanine aminotransferase (p = 0.040) were significantly higher in patients with abnormal URO than in patients with normal URO. The frequency of cirrhosis was higher, but not significantly different, in patients with increased URO (16.7%) compared with patients with normal URO (3.8%). The authors demonstrated that even without a clinical manifestation of PCT it is possible to detect abnormalities in the metabolism of porphyrins in patients with chronic HCV infection. The implications of these findings deserve additional investigation.

Porphyria cutanea tarda. Don't forget to look at the urine.

Diagnosis of porphyria cutanea tarda is usually fairly straightforward because of the characteristic clinical findings. Blisters and erosions develop acutely on sun-exposed skin, sometimes accompanied by hypertrichosis, abnormal pigmentation, and milia formation. Iron stores are usually elevated, and liver transaminases and blood glucose levels are often above normal as well. Gross examination of the urine can provide a valuable clue, since urine of porphyria cutanea tarda patients is red to brown in natural light and pink to red in fluorescent light. Biopsy of a bullous lesion is useful to rule out other diseases. Confirmation of porphyria cutanea tarda requires measurement of porphyrin levels in a 24-hour urine collection. Once the diagnosis is confirmed, it appears reasonable to screen all patients with porphyria cutanea tarda for hepatitis C and possibly B, but especially those less than 30 years old who have extremely high liver transaminase levels. Therapeutic measures for porphyria cutanea tarda include avoidance of exacerbating factors, especially ultraviolet light, ethanol, and certain medications. Phlebotomy or chloroquine therapy is reserved for patients in whom conservative measures fail.

[Prevalence of porphyria cutanea tarda in Madrid and relationship between urine porphyrin and ethanol intake in a multiple linear regression model]. / Prevalencia de porfiria cutánea tarda en Madrid y asociación entre la porfirinuria y el consumo de etanol en un modelo de regresión lineal múltiple.

BACKGROUND: The application of a simple fluorometric analytical method enabled us to quantify the urinary porphyrin excretion and to establish the prevalence of porphyria cutanea tarda (PCT) in the town of Madrid, Spain, in a cross-sectional study. PATIENTS AND METHODS: The study assessed 1,613 subjects from three districts in Madrid, in whom further variables potentially related to porphyrinuria such as ethanol intake or -in women-oral contraceptive use were measured and recorded. RESULTS: The estimated prevalence of the disease was 1.24 cases per 1,000 inhabitants (95% confidence interval 0.15-4.47 per thousand). After excluding from the study sample all cases with existent disease, an analysis was performed to ascertain an unilateral tolerance interval for urinary porphyrin concentration in the adult population; this level was established at 181.2 micrograms/l. The effect of ethanol intake on porphyrinuria was considered significant using a multiple linear regression model adjusted for the control variables gender, age and body mass index. In fertile women, contraceptive use did not attain statistical significance when that variable was included in a multiple regression model. CONCLUSIONS: A high prevalence has been estimated for PCT in the Madrid population. A significant association was further found between alcohol intake and porphyrinuria in non-porphyric adults.

[Treatment of porphyria cutanea tarda with chloroquine and its effect on associated liver disease: retrospective analysis]. / Tratamiento de la porfiria cutánea tarda con cloroquina y su efecto sobre la hepatopatía asociada: análisis retrospectivo.

BACKGROUND: Chloroquine may improve cutaneous symptoms and liver disease manifestations in patients with porphyria cutanea tarda. AIM: To retrospectively analyze the effects of choloroquine in patients with porphyria cutanea tarda. PATIENTS AND METHODS: Five patients (one female), aged 45 to 65 years old, were studied. The duration of the disease ranged from 2 to 15 years. One patient was alcoholic and other was a hepatitis C virus carrier. All patients received chloroquine 125 mg twice weekly. Before, during and after treatment, cutaneous signs, serum bilirubin, hepatic enzymes and urine copro and uroporphyrin were assessed. Four patients were subjected to a liver biopsy before starting chloroquine. RESULTS: All patients had increased levels of urine porphyrins, four had abnormal serum liver enzymes. All liver biopsies showed variable hemosiderosis, two patients had a chronic active hepatitis (one with cirrhosis), one a chronic persistent hepatitis and one had mild rague alterations. During chloroquine treatment, cutaneous symptoms improved in all patients, transaminases and gamma glutamyl transferase decreased. In three, urine uroporphyrin increased initially and normalized afterwards. Choloroquine was well tolerated. CONCLUSIONS: Chloroquine improved cutaneous symptoms, urine uroporphyrin and serum liver enzyme levels in treated patients.