Porphyria occurs in three forms. Congenital porphyria
appears early in childhood as a fault of the pigment metabolism, possibly
inherited as a mendelian recessive. There is hypersensitivity of the skin to
sunlight in spring and summer showing as hydroa aestivale. Blisters develop on
exposed parts of the face and extremities and may heal with scarring. There is
a reddish or purplish brown discoloration of the teeth and bones due to impregnation
with uroporphyrin I. Large amounts of uroporphyrin are excreted in the urine
giving it a reddish color and causing it to fluoresce when exposed to
ultraviolet light; fluorescence of the fingernails and teeth also shows. A
variety of congenital porphyria is porphyria cutanea tarda.
Porphyria cutanea tarda is a relatively
rare inherited fault of pyrrole metabolism characterized by the excretion of
various types of porphyrin, mostly uroporphyrin. There are two types. The
erythropoietic type is a form of blood dyscrasia with the site of origin in the
bone marrow. There are mutilating photosensitivity, splenomegaly, hemolytic
anemia, erythrodontia, hypertrichosis and melanosis. Treatment is by
splenectomy. The hepatic type arises in the liver, apparently due to a genetic
enzymatic disturbance. There is no evidence of consanguinity, but there are
signs of impaired liver function. Many of the patients that Brunsting reported
in childhood had red hair that turned dark or black in later life. There was
frequently a history in older people of the darkening of gray hair. There were
blisters and crusted lesions, not always related to exposure to light.
Sclerodermatous patches were often noted. There was a history of colic,
hypertension, melanosis, paresis or paralysis, and aggravation by drugs and
alcohol. In the hepatic type there is no hemolytic disease.
Acute porphyria
manifests itself by gastrointestinal symptoms and nervous system involvement.
There is often agonizing abdominal pain that may come and go rather
rhythmically. It may be in the upper abdomen or in the loins and associated
with vomiting, constipation, icteric tinge to the conjunctivae, anxiety,
crying, perplexed syndromes, paralyses and convulsions.
There may be
spotted pigmentation, but the skin is little affected and patients rarely show
light sensitivity. The urine has a characteristic pink color, which does not
develop immediately but is most evident after forty-eight hours. Porphyrins are
excreted in excessive amounts. Uroporphyrin III is excreted in very large
amounts chiefly during attacks. Smaller amounts of coproporphyrin III or I are
found occasionally. Microscopically there may be patchy degeneration of the
myelinated fibers of the nerve roots of the cord white matter. Petechial
hemorrhages and areas of focal necrosis occur in the brain. The etiology is
obscure, and no treatment has been established. Glucose and thiamine may be
given intravenously.
Chronic
porphyria includes those cases that cannot be classified as congenital or
acute, but exhibit the clinical symptoms of both in a milder form. The face and
neck have a bluish cast. In chronic porphyria the skin is sensitive to light
Sclerodermatous thickening occurs in the cheeks and back of the neck.
Gastrointestinal, nervous and mental symptoms occur, either singly or in
combination. Acute toxic porphyrinuria caused by certain toxic substances and
drugs should not be included. Chronic porphyria is characterized by excessive
excretion of coproporphyrin III and I and uroporphyrin III and I. Chronic
porphyria is a disturbance of metabolism with hereditary aspects, and may be latent
for a long time, as in diabetes. Chronic alcoholism is often a precipitating
factor. In almost all cases there is failure to demonstrate hypersensitivity to
any of the fractions of the spectrum by artificial tests. The treatment of
porphyria, in a broad sense, is that of cirrhosis of the liver. Intramuscular
injections of 2 to 5 cc. of crude liver extract two or three times a week are
beneficial.