Abstract

SYSTEMATIC REVIEW OF PORPHYRIA

Akhila P.*, Sreethu P. and Bincy Vargheese

ABSTRACT

The porphyrias are a group of rare diseases in which chemical substances called porphyrins accumulate with high metabolism. The body requires porphyrins to produce heme, which carries oxygen in the blood. But in the porphyrias, there is a deficiency (inherited or acquired) of the enzymes that transform the various porphyrins into others, leading to abnormally high levels of one or more of these substances. This manifests with neurological symptoms or skin problems, or both. Porphyrias are classified in two ways, by symptoms and by pathophysiology. Symptomatically, acute porphriyas cause brain and nerve involvement, often with severe abdominal pain, vomiting, neuropathy, and mental disturbances. Coetaneous porphyrias cause skin problems, often exposure to sunlight, because porphyries react with light. Physiologically, porphyrias are classified as hepatic or erythropoietic based on the sites of accumulation of heme precursors, either in the liver or in the bone marrow and red blood cells. Administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, and perform the bone marrow or hematopoietic stem cell transplants therapies for congenital erythropoietic protoporphyria. These developments are reviewed to update the latest advances in these diverse disorders.

Keywords: Porphyria, Coetaneous porphyrias, erythropoietic porphyrias.