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, herbs or other supplements that you're taking, including dosages
- Questions to ask your doctor
Questions to ask your doctor may include:
- What's the most likely cause of my symptoms?
- What are other possible causes?
- What kinds of tests do I need?
- 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 precautions or restrictions I should follow?
- Do I need genetic testing? If so, should my family members be screened?
- Are there any brochures or other printed material that I can have? What websites do you recommend?
Don't hesitate to ask other questions during your appointment.
What to expect from your doctor
Your doctor is likely to ask you several questions. Be ready to answer them to spend time on areas you want to focus on. Some questions your doctor may ask include:
- When did you first begin experiencing symptoms?
- Have your symptoms been continuous or occasional?
- What, if anything, seems to improve your symptoms?
- What, if anything, appears to worsen your symptoms?
- Do any family members have similar symptoms?
July 15, 2017
- National Library of Medicine. Porphyria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/porphyria. Accessed Feb. 22, 2017.
- Porphyria. National Institute of Diabetes and Digestive and Kidney Diseases. https://www.niddk.nih.gov/health-information/liver-disease/porphyria. Accessed Feb. 22, 2017.
- Learning about porphyria. National Human Genome Research Institute. https://www.genome.gov/19016728/learning-about-porphyria/. Accessed Feb. 22, 2017.
- Overview of porphyrias. Merck Manual Professional Version. http://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/porphyrias/overview-of-porphyrias. Accessed Feb. 22, 2017.
- Porphyria. Lab Tests Online. https://labtestsonline.org/understanding/conditions/porphyria/. Accessed Feb. 22, 2017.
- Overview of porphyrias. The Porphyrias Consortium. https://www.rarediseasesnetwork.org/cms/porphyrias/Learn-More/Disorder-Definitions. Accessed Feb. 22, 2017.
- Porphyria. The Porphyrias Consortium. https://www.rarediseasesnetwork.org/cms/porphyrias/Healthcare-Professionals/Disorder-Definitions. Accessed Feb. 22, 2017.
- Anderson KE. Porphyrias: An overview. https://www.uptodate.com/home. Accessed Feb. 22, 2017.
- Stein PE, et al. Update review of the acute porphyrias. British Journal of Haematology. 2017;176:527.
- Tracy JA, et al. Porphyria and its neurologic manifestations. Handbook of Clinical Neurology. 2014;120:839.
- Horner ME, et al. Cutaneous porphyrias part I: Epidemiology, pathogenesis, presentation, diagnosis, and histopathology. International Journal of Dermatology. 2013;52:1464.
- Tintle S, et al. Cutaneous porphyrias part II: Treatment strategies. International Journal of Dermatology. 2014;53:3.
- Davis DMR (expert opinion). Mayo Clinic, Rochester, Minn. June 28, 2017.