Topic > Porphyria - 1080

“Extreme pain, paralysis and malaise took over my body, because for weeks the doctors seemed to think that I had made it up, that I was crazy or anorexic. They eventually discovered that it was porphyria, inherited from my father... We learned that antibiotics prescribed for a minor infection had probably triggered it in my case, but I subsequently had attacks generally in the premenstrual period. These attacks varied in severity, but the pain and vomiting were omnipresent... My weight gradually decreased, as I was unable to gain it back in the short periods of time between attacks, which led to an attack that left me left almost completely paralyzed." (Elizabeth, 2011) Porphyria is a hereditary disease that requires transmission from a single parent. Porphyria is made up of eight different forms, but they all present an abnormal accumulation of porphyrins, caused by heme , a part of red blood cells that gives them their color and carries oxygen (drugs). Heme irregularities affect the chemical porphyrin, which gives the disease its name. Porphyria attacks nerve and muscle symptoms abnormal skin rashes in sunlight, as well as seizures, nausea, and other symptoms People with porphyria usually should avoid being in the sun without protection and should keep stress levels low, as this can cause symptoms or an attack of porphyria. Porphyria occurs when heme is disrupted. Heme synthesis involves eight different enzymes, which create eight different forms of porphyria. The destruction of heme causes the accumulation of porphyrin in various places in the body. It eventually causes liver problems, which makes the urine dark. This is why most cases of porphyria have liver problems (American Porphyria Foundation). P...... middle of document ...... utanea late similar symptoms. About 5,000 people have reported having symptoms of skin blistering. In Gaston Leroux's original novel, The Phantom of the Opera, the ghost's facial deformity is believed to be caused by porphyria (American Porphyria Foundation). Porphyria is a serious disease that can leave people in severe pain, paralysis, or even death. . However, if diagnosed and treated correctly, it can be a manageable disease. Most deaths that occur are in those who don't know they have it when they are exposed to alcohol, toxins, or dietary changes. However, people with this disease are able to learn and persevere with their condition and adapt to living a normal, comfortable life. New research is enabling the development of new drugs that can limit people's attacks. Tests are also implicated in detecting porphyria at an early age.