Porphyrias
Porphyrias isn’t a single condition but refers to a set of inherited but rare blood-related disorders. Those suffering from these conditions have difficulties making a specific substance known as heme within their bodies. This substance is composed of various chemicals in the body called porphyrin and is linked to iron. Heme is also a part of hemoglobin, the proteins found in RBCs responsible for carrying oxygen. It’s also responsible for their color. Unfortunately, people with porphyria lack the enzymes needed to create heme. Because of this, porphyrin accumulates in the blood and tissues, causing various symptoms ranging in severity.
While the symptoms most common in the condition are sensitivity to light, abdominal pain, and issues with the nervous system and muscles, they can also cause insomnia, vomiting, constipation, seizures, hallucinations, confusion, and reddish brown urine. Unfortunately, there’s still no cure for these types of diseases. However, the symptoms can be managed through treatments like beta blockers, opioids, hematin, and gene therapies. It’s also recommended to avoid recreational drugs, stress, excessive drinking, and specific antibiotics.
