What is Hereditary Coproporphyria?
The extremely rare form of porphyria was first described in 1955. According to clinical signs, the disease resembles acute intermittent porphyria.
Causes of Hereditary Coproporphyria
The disease is genetically determined, is transmitted by an autosomal dominant type, usually has a hidden course.
Pathogenesis during hereditary Coproporphyria
With this pathology, there is a violation of the activity of the enzyme coproporphyrinogen oxidase. At the same time, an increase in the synthesis of 5-aminolevulinic acid is detected in the liver.
Symptoms of Hereditary Coproporphyria
The most frequent symptom of the disease are abdominal pain, sometimes there are mental disorders, paresis, but they are more rare and not as severe as in acute intermittent porphyria. Blood pressure may increase, tachycardia is observed. Some patients have signs of bullous photodermatitis.
Diagnosis of Hereditary Coproporphyria
In the urine of patients with hereditary coproporphyria, an increase in the amount of 6-aminolevulinic acid and porphobilinogen is found in the period of exacerbation, although their level is lower than in acute intermittent porphyria.
The amount of coproporphyrin is sharply increased in urine and in feces. The content of uroporphyrin urine and protoporphyrin feces within normal limits. Erythrocyte porphyrin content is not increased. During remission, the content of porphobilinogen and 6-aminolevulinic acid in the urine may be normal, but the content of coproporphyrin in the urine and feces remains elevated in remission.
Treatment of Hereditary Coproporphyria
Treatment of exacerbations in hereditary coproporphyria does not differ from the treatment of acute intermittent porphyria. In severe crises, large concentrations of glucose are used, adenosine monophosphate (adenyl, phosphadene) and riboxin are used, and in severe crises, hematin is used. When skin manifestations use sunscreen.
The prognosis for hereditary coproporphyria is significantly better than for acute intermittent porphyria. The disease does not give such severe crises, as in the case of acute intermittent porphyria, remission occurs more often, rarely there are repeated exacerbations.