Preparing for your appointmentBy Mayo Clinic staff
If you have signs and symptoms of porphyria, you're likely to start by seeing your family doctor or a general practitioner. However, because porphyria can be difficult to diagnose, when you call to set up an appointment, you may be referred immediately to a doctor who specializes in blood disorders (hematologist).
It's a good idea to be well prepared for your appointment. Here's some information to help you get ready, and what to expect from your doctor.
What you can do
- Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet or not take any medications.
- Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
- Write down key personal information, including any major stresses or recent life changes.
- Make a list of all medications, vitamins and supplements that you're taking.
- Write down questions to ask your doctor.
Preparing a list of questions before your appointment will help you make the most of your time together. List your questions from most important to least important. For porphyria, some basic questions to ask your doctor include:
- What's the most likely cause of my symptoms?
- Other than the most likely cause, what are other possible causes?
- What kinds of tests do I need? Do I need genetic testing?
- How severe is my condition?
- What is the best course of action?
- What are the alternatives to the primary approach that you're suggesting?
- I have another health condition. Do I need to make any changes to my medication now that I've been diagnosed with porphyria?
- Are there any dietary restrictions I need to follow?
- What precautions do I need to take when spending time outdoors?
- Do I need to be concerned about taking medications in the future?
- Are there any brochures or other printed material that I can take with me? What websites do you recommend?
- Should my family members be screened?
- Will I need a medical alert bracelet?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions that occur to you during your appointment.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Your doctor may ask:
- When did you first begin experiencing symptoms?
- Have your symptoms been continuous or occasional?
- How severe are your symptoms?
- What, if anything, seems to improve your symptoms?
- What, if anything, appears to worsen your symptoms?
- Do any family members have similar symptoms?
What you can do in the meantime
Avoid the following:
- Sunlight (wear sunscreen and protective clothing when outdoors)
- Any unnecessary drugs, including over-the-counter medications
- Fasting and dehydration
- Puy H, et al. Porphyrias. The Lancet. 2010;375:924.
- Learning about porphyria. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=19016728. Accessed March 22, 2011.
- Porphyria. National Digestive Diseases Information Clearinghome (NDDIC). http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/Porphyria.pdf. Accessed March 22, 2011.
- Anderson KF. Porphyrias: An overview. http://www.uptodate.com/home/index.html. Accessed March 22, 2011.
- Porphyrias. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/print/sec12/ch155/ch155a.html. Accessed March 22, 2011.
- Desnick RJ, et al. The porphyrias. In: Fauci AS, et al. Harrison's Online. 17th ed. New York, N.Y.: The McGraw-Hill Companies; 2008. http://www.accessmedicine.com/content.aspx?aID=2883658. Accessed March 22, 2011.
- Singal AK, et al. Porphyria cutanea tarda and hepatoerythropoietic porphyria. http://www.uptodate.com/home/index.html. Accessed March 22, 2011.
- Wolanskyj AP (expert opinion). Mayo Clinic, Rochester, Minn. April 5, 2011.