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Kevin Karivelil Porphyria Cutanea Tarda Porphyrias are a group of rare genetic disorders that are passed down

through families, in which an important part of hemoglobin, called heme, is not made properly. These hemes are important because they are relied on for the transportation of oxygen throughout the blood. There are several types of this disease; however, the most common is called porphyria cutanea tarda. (PCT) Cause PCT is an autosomal dominant disorder caused by a mutation in the UROD gene. Only one parent needs the defective allele in order for the disorder to be present in their children. However, PCT is more likely to be acquired/triggered by environmental factors, such as: barbiturates, fasting, excessive drinking or smoking, excess iron levels, and overexposure to sun rays. Effect on Body Systems Heme is found in all of the bodys tissue, so a lack of this component causes weakened body tissues, especially in the liver and lungs, two organs that rely on a healthy amount of heme to function. The heart and kidney may also show weakened or irregular activities. Symptoms Porphyrias involve three major symptoms that tend to progress in ascending order: 1. Abdominal pain or cramping 2. Extreme sensitivity to sunlight that causes blistering, itching and swelling of the skin 3. Potential nerve damage and seizures *The 1st and 3rd symptoms are more common in acute cases of porphyria, while the 2nd is more prevalent in chronic cases. Treatment Since PCT is a chronic disorder and symptoms slowly worsen over time, there is no specific treatment other than to avoid the environmental triggers. Cure? Porphyrias are life-long disorders with symptoms that come and go, and currently, there is no cure. However, careful avoidance of trigger factors means that most people with the disease can still lead a normal life. Additonal Info There are currently over 20 clinical trials concerning porphyrias being conducted by the US National Institutes of Health in order to better understand the disease and discover a cure. Medical centres that have taken a leading role in understanding and combatting this family of disorder are: The American Porphyria Foundation(1982-present) and the European Porphyria Network (2007-present).