The disease called Erythropoietic protoporphyria or (EPP) is considered a rare condition and grouped under Porphyria. The pathogenic variants in mutations that happen in FECH gene caused EPP that can lead to the activity impairment of ferrocheletase (FECH). This gene is an essential enzyme for the production of heme. If such case occurs, it may lead to protoporphyrin accumulation in the various parts of the body bone marrow, blood plasma, red blood cells, skin and even in the liver. The accumulation can also lead to extreme light sensitivity, spleen enlargement, abdominal pain and damage of the liver. There is an autosomal recessive when it comes to inheritance cases.
Patients diagnosed with this kind of disease need to prevent UV light exposure like the sun, vitamin D supplements, tanning creams and use protective clothes as much as possible. Afamelanotide (Scenesse) is a popular medicine which is a hormone that can stimulate synthetic a melanocyte. Melanocyte is responsible for producing the skin darkening pigment called melanin. In 2014, this treatment has been approved by the European Medicines Agency to be used for EPP treatment. In the US, it is still waiting to be approved by the FDA.
The medicine works by ensuring sun exposure will be painless. It has already improved the life quality of patients with EPP. Complications in the liver can be treated with cholestyramine and other types of porphyrin absorbents, plasmapheresis. This is a method where the blood’s liquid part or the plasma will be separated from the blood cells. Sometimes, the use of intravenous heme is considered to beneficial. For liver damages/diseases, there may be a need to perform transplantation.
Some symptoms of the disease include itching, photosensitive skin, gallstones, liver dysfunction, fluid retention, a healthy liver tissue is re
placed by scar tissue, liver failure, and increased plasma triglycerides.
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