Porphyria is a rare disease that affects fewer than 200,000 people in the U.S. Many physicians are, therefore, unfamiliar with it and its treatment. This could be a major problem, particularly in a medical emergency. If you have the disease, working with your primary doctor to develop and maintain a treatment plan can help ensure that you get the best care possible.
What is porphyria?
Porphyria refers to a group of disorders in which affected individuals cannot make hemoglobin, the protein that binds oxygen in red blood cells. Due to this inability, porphyrins — chemicals the body normally uses to make hemoglobin — accumulate in the body.
How do doctors treat it?
The treatment for porphyria depends on the severity of symptoms and the specific type of disease. Doctors usually treat acute porphyrias with heme infusions to slow the body’s production of porphyrins. In severe cases, patients may require a liver transplant.
If you have cutaneous porphyrias, you should take care to avoid sunlight as much as possible. Doctors may treat you by taking blood draws to reduce your iron levels.
A diet with average-to-high levels of carbohydrates may help reduce symptoms. Your doctor may also prescribe vitamin and mineral supplements.
What is a treatment plan?
In general, a treatment plan comprises a description of your disease and a list of common symptoms, underscoring those that you’ve been experiencing. Such a plan also has information about prescribed medications and supplements you currently take, including the dosage and possible side effects. If you’re on a special diet, your treatment plan should include that information too.
Your treatment plan should also contain the contact information of your primary care physician. Other emergency contacts, such as your healthcare proxy and a relative, should also be included.
Acute porphyria can be life-threatening, especially if the disease affects the muscles that control breathing. Some patients may also experience seizures, hallucinations, and other symptoms, which may make it difficult or impossible for them to explain their condition when they’re experiencing a medical emergency, underscoring the importance of having a treatment plan readily available.
Who gets a copy of your treatment plan?
If you provide emergency room personnel with your plan, they can contact your physician for any questions about your treatment. Another copy should go to your healthcare proxy, a legally designated individual who can, if necessary, make medical decisions on your behalf. Make sure you discuss the plan with your medical proxy.
If you are in school, you should make the school nurse or clinic aware of your condition, and give them a copy of your treatment plan. School officials need to be prepared to treat you if you need medical care while at school.
If you are employed, you should give a copy of your treatment plan to your workplace representatives so that, in the event of an emergency, they can call your emergency contacts.
How should your treatment plan be updated?
Review your treatment plan and update all necessary sections after each doctor’s visit. Were you prescribed new medications? Does your doctor have new recommendations? Are you trying a new treatment? Has your doctor changed the dosages of your current medications? Include all this information in your treatment plan.
After each update, make sure everyone with a copy of your treatment plan has the most current information.
Last updated: June 16, 2020
Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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