Preparing for your appointmentBy Mayo Clinic Staff
If you have signs and symptoms of porphyria, you're likely to start by seeing your primary care provider. However, because porphyria can be difficult to diagnose, you may be referred to a doctor who specializes in blood disorders (hematologist).
Here's some information to help you get ready, and what to expect from your doctor.
What you can do
Before your appointment, make a list of:
- Any symptoms you're experiencing, including any that may seem unrelated to the reason for your appointment
- Key personal information, including any major stresses or recent life changes
- All medications, vitamins or other supplements that you're taking, including dosages
Preparing a list of questions before your appointment will help you make the most of your time. For porphyria, some basic questions to ask your doctor include:
- What's the most likely cause of my symptoms?
- What are other possible causes?
- What kinds of tests do I need? Do I need genetic testing?
- How severe is my condition?
- What's the best course of action?
- What are the alternatives to the primary approach that you're suggesting?
- I have another health condition. How can I best manage these together?
- 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 have? What websites do you recommend?
- Should my family members be screened?
- Will I need a medical alert bracelet?
Don't hesitate to ask any other questions during your appointment.
What to expect from your doctor
Your doctor is likely to ask you a number of questions, such as:
May 20, 2014
- 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?
- Information for professionals. The Porphyrias Consortium. https://rarediseasesnetwork.epi.usf.edu/porphyrias/professionals/index.htm. Accessed Feb. 7, 2014.
- Learning about porphyria. National Human Genome Research Institute. https://www.genome.gov/19016728. Accessed Feb. 7, 2014.
- Porphyria. National Digestive Diseases Information Clearinghouse (NDDIC). http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/. Accessed Feb. 7, 2014.
- Anderson KE. Porphyrias: An overview. http://www.uptodate.com/home. Accessed Feb. 7, 2014.
- Overview of porphyrias. The Merck Manuals: The Merck Manual for Health Care Professionals. http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/overview_of_porphyrias.html. Accessed Feb. 7, 2014.
- Porphyria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/porphyria. Accessed Feb. 7, 2014.
- Riggin, EA. Decision Support System. Mayo Clinic, Rochester, Minn. Nov. 21, 2013.
- Panhematin hemin for injection (prescribing information). Lebanon, N.J.: Recordati Rare Diseases, Inc.; 2013. http://www.aiporphyria.com/. Accessed Feb. 12, 2014.
- Porphyrin tests. Lab Tests Online. http://labtestsonline.org/understanding/analytes/porphyrins/tab/sample. Accessed Feb. 17, 2014.
- Tracy JA, et al. Porphyria and its neurologic manifestations. Handbook of Clinical Neurology. 2014;120:839.
- Pittelkow MR (expert opinion). Mayo Clinic, Scottsdale, Ariz. March 17, 2014.
- Solberg LA Jr. (expert opinion). Mayo Clinic, Jacksonville, Fla. March 18, 2014.