What’s UP Doc?

Question: My genetic test for AIP shows a VUS and I was told the variant was de novo- what does this mean?

Question: Our 17-year-old daughter has the gene for AIP. Should she avoid hormonal birth control? Are there safe options for her?

Question: Is there a way to make Panhematin infusions more comfortable? 

Question: Does porphyrin in stool fluoresce under UV/Wood light?

Question: When will we get a treatment for Congenital Erythropoietic Porphyria (CEP)?

Question: I think I might have Acute Intermittent Porphyria (AIP). My doctor ordered a urine porphyrin test, my porphyrins were high but then I was told that the results aren't considered diagnostic. Why not? And what tests should my doctor order?

Question: How will menopause affect my porphyria? Are estrogen treatments for menopause safe?

Question: I am having a planned laparoscopic surgery next week.  Should there be a filter on the light on the laparoscope?  If so, would you be able to tell me what filter would need to be used?  Can you also tell me what filters would be needed for the surgery lights in the operating room?

Question: If you have acute porphyria, why is it important to have your liver function checked annually? What can you do to prevent issues with your liver?

Question: I have AIP. I haven’t had a porphyria attack for several years and I don’t have a porphyria specialist. Is there anything I should ask my doctor to check for during my annual check-up?

Question: Are there guidelines for managing erythropoietic protoporphyria (EPP) and x-linked porphyria (XLP)?

Question: I have been treated with Panhematin for many years – and I’m interested in learning about how Panhematin was first used. Can you share that history with me and others?

Question: I’ve heard that vitamin d deficiency can cause osteoporosis, and that sunlight is the main way you get vitamin D. If you have to stay out of the sun to avoid a reaction, what are things you can do to keep your bones strong?

Question: I heard a doctor in a presentation say that people with porphyria should “look after their kidneys.” How do you do that?

Question: Can starting menopause make PCT worse/relapse? (because phlebotomies are a treatment and if you stop having periods maybe iron builds up?)

Question: I am thinking about starting Givlaari injections. What tests should I have done before and during my treatment?

Question: I have Variegate Porphyria – why am I confused during an attack?

Question: I understand that Porphyria is a rare disease and being recently diagnosed with AIP, I am trying to understand more and more. How many people in the US have porphyria? Which type of porphyria is the most common? The least common? How do you calculate these numbers?

Question: Can having tachycardia (fast, irregular heartbeat) due to AHP cause long term health issues? If you have tachycardia from AHP, are there things you can do to protect your heart?

What is the Porphyrias Consortium? Why is it so important? What do they do?

What are enzymes and why they are important in the porphyrias?

Question: Can you recommend a list of specialties for acute porphyria patients, and a list of specialties for cutaneous porphyria patients?

Question: What extra precautions should I take when I am having my teeth cleaned or any dental work? I have CEP and want to talk to my dentist in advance.

What should a person with Acute Hepatic Porphyria know about homosysteine and is there guidance for patients to follow?

Question: A lot of EPP patients are confused about taking iron supplements. What would you suggest?

United Porphyrias has received many questions about pain, most related to pain in the Acute Hepatic Porphyrias (AIP, VP, HCP, ADP). This week, we are addressing Pain in Acute Hepatic Porphyria in depth.

Question: My daughter (now age 26) has AIP. How will acute porphyria attacks impact her liver as she ages? She was diagnosed a few years ago and her last attack was several months ago. 

Question:  We know that extra porphyrins are what makes the skin hurt when my son has an EPP reaction but are they doing any damage on the inside of the body?

Question: I was diagnosed with acute intermittent porphyria about two years ago. I’m always worried about my next attack. What plan should I have in place in the event of another attack? At what point do you think I shouldn’t try to go it alone without help?