How to cure Protoporphyria?
The term protoporphyria now encompasses two clinically similar disorders that most often result from hereditary mutations in one of three different genes. The most common is erythropoietic protoporphyria (EPP). It is an inherited disorder caused by partial deficiency in mitochondrial ferrochelatase (FECH), the terminal enzyme of heme biosynthesis. The resultant accumulated excess of its substrate, metal-free protoporphyrin, causes two principal manifestations: (1) an acute cutaneous photosensitivity typically first appearing during childhood and (2) hepatobiliary disease
@sucheta For protoporphyria uncomplicated by hepatobiliary disease, the major problem is lifelong cutaneous photosensitivity. Avoiding sunlight is the mainstay of management. Opaque topical sunscreens or ultraviolet (UV) B phototherapy may improve the tolerance of light. Symptom prevention was impossible until 2006 when afamelanotide, a melanocyte-stimulating hormone analogue that induces epidermal melanin skin-tanning and has an anti-inflammatory effect on the skin, became available. Afamelanotide is a newer therapy based on the observation that sun-related symptoms are inversely related to skin pigmentation in people with protoporphyria. This congener of α-melanocyte–stimulating hormone increases production of eumelanin. It is supplied as a sustained-release subcutaneous implant. Skin darkening starts within a few days after placement of the implant and persists for 3-4 weeks