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.
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