[The hepatic porphyrias: experience with 105 cases].
Hepatic porphyria is a rare metabolic syndrome caused by abnormal enzyme activity in heme biosynthesis. Between 1974 and 1991; 105 patients have met criteria for diagnosis of hepatic porphyria based on typical clinical findings and/or laboratory abnormalities. According to type, 42% had porphyria cutanea tarda, 21% porphyria variegate, 15% protoporphyria, 6.7% acute intermittent porphyria, 6.7% coproporphyria and 1.9% porphyria due to porphobilinogen deficit. A proper classification was not established in 6.7% of patients. Porphyria cutanea tarda was more common in males (70%) and porphyria variegata, in females (90%). A family history of the disease was present in 33% of patients; 20% of patients were of European descent and 4% of Mapuche descent. Diagnosis was usually established in the third decade, somewhat later in porphyria cutanea tarda (45 years of age) and very early in protoporphyria. 10% of patients were asymptomatic and 29 patients developed at least one porphyric crisis. These were related to pregnancy in 6 patients, to hormone administration in 7, to antibiotics in 5. No cause was established in 21 cases. Severe crisis were successfully treated with Hematin. Venipuncture was used to treat 50% of patients with porphyria cutanea tarda with 95% success. Thus, hepatic porphyria is recognized with increasing frequency and can be treated successfully in most cases.
Armas
R
R
Departamento de Medicina Occidente, Universidad de Chile, Santiago.
Wolff
C
C
Krause
P
P
Chaná
P
P
Parraguez
A
A
Soto
J
J
D000293:Adolescent; D000328:Adult; D002648:Child; D002677:Chile / Q000453:epidemiology; D005260:Female; D006418:Heme / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D017094:Porphyrias, Hepatic / Q000145:classification* / Q000453:epidemiology / Q000378:metabolism / Q000628:therapy; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology; D012189:Retrospective Studies
D006418:Heme
Las porfirias hepáticas: experiencia con 105 casos.