Hematoporphyria

Hematoporphyria was originally called purple disease, and it is a rare disease. Most of the diseases are caused by genetic defects caused by lack of enzymes in the heme synthesis pathway, which lead to disorders of porphyrin metabolism. The clinical manifestations are mainly light-sensitive skin damage, abdominal pain and neuropsychiatric symptoms. Porphyrin precursors may be the material basis for abdominal and neuropsychiatric symptoms. The sympathetic nervous system plays a role in the pathogenesis of abdominal pain and increased blood pressure. According to the site of porphyrin metabolism disorder, it can be divided into erythropoietic hematoporphyria and hepatic hematoporphyria.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.