Porphyria Diagnosis

The porphyrias are a group of inborn errors of metabolism due to by enzymatic defects in the heme biosynthetic pathway. Resulting accumulations of intermediary metabolites cause characteristic clinical manifestations including neurological and psychological symptoms and cutaneous photosensitivity. Though most of these disorders have genetic causes, environmental cause may make worse symptoms and significantly impact the severity and course of disease. Early diagnosis together with education and counseling of the patient regarding the nature of the ailment and avoidance of precipitating factors are essential for successful management.

Some of the medicines used to treat a sudden (acute) attack of porphyria may include:

  • Hematin given through a vein
  • Pain medication
  • Propranolol to control the heartbeat
  • Sedatives to help you feel sleepy and less anxious

Other treatments may include:

  • Chloroquine
  • Removal of blood
  • Beta-carotene supplements
  • Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins

Each type of porphyria is treated in a different way. Porphyria Treatment may include avoiding triggers, receiving heme through a vein, taking medicines to reduce symptoms, or having blood drawn to reduce iron in the body. People who have serious attacks may need to be hospitalized.