Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients

Am J Med. 1979 Aug;67(2):277-86. doi: 10.1016/0002-9343(79)90403-0.

Abstract

PIP: Porphyria cutanea tarda is the most common disorder of porphyrin metabolism in the United States and Europe. This report presents the clinical, laboratory and pathologic features of 40 patients with porphyria cutanea tarda. Each patient was followed up for variable times during 1960-76 at the Clinical Research Center and the Dermatology Service of the Columbia-Presbyterian Medical Center; at the New York University Medical Center; or at the Rockefeller University Hospital. Earlier age at onset; diminution of alcohol ingestion as the major etiologic factor; and, an increased incidence in females indicate new environmental influences. The most frequently associated etiologic factor, aside from alcohol intake, was use of estrogens for contraception; postmenopausal syndrome; or treatment of prostatic carcinoma. Cutaneous findings in the patients included bullae (85%); increased skin fragility (75%); facial hypertrichosis (63%); hyperpigmentation (55%); sclerodermoid changes (18%); and, dystrophic calcification with ulceration (8%). Diabetes mellitus was found in 15%; systemic lupus erythematosus in 5%; elevated serum iron level in 62%; and, abnormal liver function test results in 60%. Histologic abnormalities were seen in liver biopsies of 34 patients. Phlebotomy is the treatment of choice. In 32 patients so treated, clinical remissions averaged 30.9 months. 31% (10 patients) had a relapse but additional phlebotomies resulted in 2nd remissions. Chloroquine and plasmaphoresis treatments were also briefly discussed.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Alcohol Drinking
  • Bloodletting
  • Child
  • Chloroquine / therapeutic use
  • Contraceptives, Oral / adverse effects
  • Diabetes Complications
  • Estrogens / adverse effects
  • Female
  • Humans
  • Iron / blood
  • Liver Function Tests
  • Lupus Erythematosus, Systemic / complications
  • Male
  • Middle Aged
  • Porphyrias / diagnosis*
  • Porphyrias / etiology
  • Porphyrias / therapy
  • Porphyrins / metabolism

Substances

  • Contraceptives, Oral
  • Estrogens
  • Porphyrins
  • Chloroquine
  • Iron