Porphyria is a rare blood disease, with less than 20,000 cases in the U.S. every year. Because of this rarity, many people are unaware that the symptoms they experience have a name and can be treated. A news article ran by KOCO 5 News about a man with porphyria helped to bring awareness to this disease and led others to realize that they also had the disease. This news story goes to show the importance of awareness for rare diseases, as it can not only help people recognize what they have, but it can also help to connect them with the right healthcare professionals for them.
About Porphyria
Porphyria is a rare blood disease that results from a buildup of natural chemicals that make porphyrin, which are necessary for the function of hemoglobin. Hemoglobin is important as it carries oxygen to tissue and organs and binds iron. If the levels of porphyrin are too high, significant issues occur. Porphyria is inherited for the majority of cases, with one or both parents passing down the gene, as there are dominant and recessive forms of this disease. Even if one does inherit these genes, it does not always equate to having the symptoms. Latent porphyria can occur, and it is often the case when people carry the abnormal genes. While the genetic factors are the greatest factor in having porphyria, there are environmental factors as well. These triggers include excessive exposure to sunlight, certain medications, recreational drugs or alcohol, dieting, smoking, physical or emotional stress, or menstrual hormones. Any of these things may encourage the body to produce a buildup of porphyrin. Two categories of porphyria exist: acute and cutaneous. Acute affects the nervous system while cutaneous affects the skin, but types of porphyria exists with symptoms from both of these categories. As there are various types of this disease, symptoms vary from person to person. Symptoms that appear with acute porphyria include severe abdominal pain, pain in the chest, legs, and back, constipation, diarrhea, vomiting and nausea, pain, tingling, or weakness of the muscles, discolored urine or problems with urination, mental changes such as hallucinations or anxiety, problems with breathing, seizures, heart palpitations, and high blood pressure. Symptoms of cutaneous porphyria affect the skin and are a result of sensitivity to sunlight. These symptoms are burning pain from exposure to sunlight, sudden swelling and pain of the skin, blisters, changes in skin color, itching, and excessive hair growth. If these symptoms are not treated during an attack, they can result in permanent damage of the skin or life-threatening complications.
KOCO 5 News Connecting People with Porphyria
KOCO 5 News ran a story in May about a man named Colin McEwen and his experience with porphyria. The story detailed his symptoms, his struggle to find the correct diagnosis, and his discovery of the right doctor for him. This doctor, Dr. Sanjaykumar Hapani, has now said that he has received eight calls in the four months after McEwen’s story was released, which led to two new patients with porphyria. One of these patients is Courtney Mathia. Her story is different from McEwen’s as she was aware of porphyria, as her grandfather also had the disease. Her issue was finding the correct doctor to treat her. She describes her journey to find the right doctor for her as ‘frustrating,’ as many doctors did not even know what porphyria is due to its rarity. It was finding McEwen’s story that connected her to Dr. Hapani, an event that was ‘life-changing.’
Treatment for Porphyria
Currently there is no cure for porphyria. Lifestyle changes can be made to avoid some of the triggers, which can cause attacks. Treatment for certain symptoms also exists, such as drugs to help with seizures. If somebody with porphyria does have a severe attack, doctors stress the importance of hospitalization.
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