Version July 2025
INTRODUCTION —
This topic was written by an individual patient diagnosed with porphyria cutanea tarda (PCT). It is intended to offer clinicians insight into the experience of a single individual from that individual's point of view, which may enhance clinical practice and health care delivery. This description of a particular patient's experience is not intended to be comprehensive or to provide recommendations regarding diagnosis, treatment, and/or medication information. It is not intended to be medical advice or to be a substitute for the medical advice, diagnosis, or treatment of a health care provider based on the health care provider's examination and assessment of a patient's specific and unique circumstances.
For related clinical topics, please see:
●(See "Porphyrias: Overview of classification and evaluation".)
●(See "Porphyria cutanea tarda and hepatoerythropoietic porphyria: Management and prognosis".)
UpToDate also offers patient education materials. "The Basics" topics are short overviews written in plain language, at the 5th to 6th grade reading level, that answer the main questions a patient is likely to have about their condition. You can share this content directly with your patients:
●(See "Patient education: Porphyrias (The Basics)".)
●(See "Patient education: Porphyria cutanea tarda (The Basics)".)
DIAGNOSIS
What is PCT? — As I understand it, porphyria cutanea tarda (PCT) is a breakdown in the way my body synthesizes blood and handles iron. I don't process iron the right way. Sunlight and ultraviolet (UV) light can very strongly impact the quality of my life because it can create these huge lesions on my skin.
In some cases, people are born with it active, and in other cases, people have a genetic predisposition that can be triggered by a variety of factors. That's what happened with me. I was just over 50 years old when I started getting small lesions on my wrists and hands.
How it started — It was in late 2017 or early 2018. I had just gone to New England for my 50th birthday, and I started getting small lesions on my wrists and my hands. They were little white dots with a little bit of pink around the edges. They looked like tiny pimples; it was odd. I started to seek a diagnosis shortly after that.
I went to see my primary care physician, and he was not impressed. I asked him for a referral to a dermatologist, which took three and a half months to get scheduled. During that time, the blisters got larger and multiplied. They started to slough off under my clothing and spread to my elbow areas and on the top of my hands.
The dermatologist really had nothing for me. They suggested a couple of creams, sunscreen. I was so disappointed. It seemed like they were more concerned about my appearance than about what was causing this.
Then I saw a second dermatologist. They also didn't have a perspective on it. They reviewed some of the things it could be. I don't remember what they were, but they were more like contact allergies. I was again surprised and grew really frustrated.
In the meantime, I didn't realize how the rest of my skin looked. It had happened incrementally over time; my skin was becoming incredibly inflamed and irritated and pink. I had some wild, painful acne, even on my eyelids and scalp, and I hadn't had acne since I was a kid.
Finally getting an answer that made sense — Finally, I went to a local "doc in a box" called "Emergency MD." The doctor who ran that practice was awesome. Very personable, very engaged. He treated me like a real person. He was reading my information, and he took a look at my hands and my arms.
He said, "You're taking topiramate," and I said, "I am." He asked me how much I was taking and how long I was taking it. It had been for about five years, for anxiety and panic attacks. It was coordinated through a psychiatrist and a therapist. Then I had back pain, and the psychiatrist suggested I double the dose. Looking back on the calendar, that was about three months before I had the first dot on my hand.
I understand that topiramate is a trigger for acute porphyrias and is rarely if ever a trigger for PCT, which is what I have. The conversation about topiramate could have been a red herring that serendipitously led me to a porphyria expert who made the correct diagnosis.
Next the doc asked me, "Do you like beer?" I answered, "I love beer." I would have three to six beers with dinner several times a week.
He said, "Here's the deal, sir. With beer, and a rare side effect on topiramate, it's possible it could trigger porphyria cutanea tarda." As noted above, this may have been an inaccurate statement by the doctor, but it pointed me in the right direction nonetheless.
He had his tablet, and he flipped the tablet around and he showed me 10 little images of a bulla forming and sloughing. I said, "Oh my God, that's it right there! That's exactly it."
I was overjoyed and horrified. It was a weird time. I was thrilled to have a diagnosis, but it was a life-altering moment. It radically changed my life.
Learning the implications — The doc said, "I'm sorry buddy, but once it's on, it's on, so bye-bye beer, and bye-bye topiramate, and you need to see a specialist." The topiramate may have been a red herring, since this medication is known to trigger acute porphyrias and not PCT (see 'Finally getting an answer that made sense' above), but the diagnosis of PCT was in fact correct.
I started doing my research, and I found the Porphyria Foundation (its name at the time) and got connected with a porphyria specialist a five-hour drive from my home.
Meanwhile, I saw a dermatologist who said, "This definitely presents like you've got porphyria." He had me get biopsies (picture 1) and a bunch of laboratory tests (picture 2). When the results came back, he gave me the news that it needed to be confirmed genetically, but he had 100 percent confidence in the diagnosis. He also tested me for hepatitis C virus (HCV) and human immunodeficiency virus (HIV) – both were negative – since these can exacerbate PCT.
The porphyria expert did more tests to confirm the genetic predisposition, repeated the HCV and HIV tests (both were negative again), and exclude hereditary hemochromatosis (another PCT risk factor), and we started to work on a plan. Overall, it took about 10 months to get to the diagnosis, and then another three months after that to get the genetic testing.
By the time that I had a confirmed diagnosis, I had started to work on greatly reducing all the bad stuff:
●Iron
●Shielding from the sun (picture 3)
●Stopped the topiramate (as noted above, this may not have been necessary)
●Greatly reduced my alcohol intake
This combination of changes resulted in the resolution of my symptoms.
When I saw the porphyria expert, I had extremely high ferritin, so I also started phlebotomy. (See 'Phlebotomy and other treatments' below.)
Skin symptoms — The skin symptoms started small, with tiny dots on my hands and elbows, and then it progressed to all of my sun-exposed skin. Then the blisters developed. (See 'How it started' above.)
Pain started around the end of the first year. The pain is on my hands, wrists, neck, ears, face. If there was a breach in my skin covering, like the brim of the hat wasn't pulled down low enough, it had a really hot sensation, like a very hot hair dryer directly on my skin. It can happen right away. It's more than the feeling of sun on a warm day; it's painful.
I also got extra hair on my face. My beard moved up my cheeks. I have hair sprouting out of my rib cage. My brow skin thickened and eyelids droop.
Now that I've had the phlebotomies, I haven't had a blister in several years. (See 'Phlebotomy and other treatments' below.)
RADICAL CHANGES
Sun protection — I spend a tremendous amount of time outside for work.
I work with farmers. I'm a local food systems advocate in the southeast United States trying to get small local production farms and organic foods into the local market. I've built a not-for-profit food hub to buy local and sell directly to food service providers. I had to develop relationships with hundreds of small farmers.
Being outdoors in the sun is inevitable in the work that I do. When I would go to a farm, I would invariably be stuck standing in the middle of a sunny field. No matter what you do to try to get a farmer to go stand in the shade, it ain't gonna happen. That was just a very ordinary part of my life.
Once this diagnosis was made, I didn't know what I was going to do. I didn't know how I was going to move normally in the world anymore.
Also, I was living in South Carolina, walking around in shorts and flip flops. My husband and I used to walk downtown every day, and we would usually walk about two and a half miles around on the trails and through the parks through the neighborhoods every day.
I realized that I have to wear full covering.
I discovered a clothing brand that sells ultraviolet protection factor (UPF) fabric. They create all sorts of different clothing for keeping the sun off your skin. This helps me move around outside without getting overheated. Whenever I go outdoors, I add these garments to keep the sun off my skin (picture 3).
This is my new normal. It's inconvenient, but I've grown accustomed to the relative comfort and the constant looks from people who do not understand.
Phlebotomy and other treatments — In addition to the skin covering, I got a bunch of phlebotomies, probably 10 total in the first year. I was initially getting a phlebotomy every three weeks or so. After those phlebotomies, my skin really started to improve. The inflammation on my face took another year to resolve.
I had a compounded salve prescribed by the dermatologist. It's a miracle, a magic bullet.
My current primary care doctor really understands this condition and helped me coordinate with the different specialists, which has been a bit of a nightmare due to lack of consistency. The first five years I had to coordinate everything, and the difficulty in booking appointments in specialist offices was an enormous stress.
At the time of this writing, my physician is very happy with my laboratory results and other health indicators. It's been a year since I've had a phlebotomy. My ferritin and transferrin saturation are only slightly above normal, so we'll likely do one phlebotomy a year moving forward. My vitamin B12 and folate levels are good, and all the other laboratory results are normal.
Role of diet
●Alcohol – I greatly reduced alcohol, as this is one of the major factors that exacerbates PCT. (See 'Learning the implications' above.)
●Food groups – I radically changed my diet. I worked with a physician nutrition specialist to create a temporary elimination diet and reintroduced food groups slowly, noting any items (mainly iron-supplemented processed foods like pasta and commercial bread) that were not affecting my skin or causing cramping and spasms, and then added things back in. Currently I'm eating a pretty normal diet.
●Vitamins – After I was diagnosed, especially for the first 1.5 years, it was clear that I would need supplemental vitamins, especially vitamin D. Individuals who need to avoid sunlight can become vitamin D deficient. I also took other vitamins and supplements including vitamin B12 (since my levels were low) and folic acid.
Some physicians in the porphyria community claim that diet plays no role in management of the disease, but as a patient this seems to me to be a blind spot. The above changes, including good nutrition, were critical to my well-being. With these changes, my cognition is better, and I have returned to feeling well rested and energized.
My current primary care physician integrates nutrition into my care, and this holistic approach works well for me. I greatly appreciate the way my physician respects and supports my interest in these areas. I understand that nutrition cannot "cure" PCT, but it can mitigate negative effects of PCT and its treatment. I wish more clinicians paid attention to nutrition. (See 'Frustrations and regrets' below.)
WIDER PERSPECTIVE
Frustrations and regrets — The main frustration has been the lack of professional medical care. I have this rare disease. It's real, but it was incredibly difficult to coordinate my care, to schedule things across the specialists, to get the right referrals. Especially the nutritional aspects (see 'Role of diet' above). It was a big deal to me. People were nice and sympathetic, but often they did the bare minimum, and the onus is fully on me, the patient.
If I had it to do over, I would have spent more time with the real porphyria expert and been more aggressive about getting engaged with the porphyria community. I would have gotten more knowledge about what was happening in my body and what I could do to minimize it. I would have found somebody far more qualified to coach me earlier in my journey. The complexity should be addressed more actively with better education, better information, clearer guidance.
For doctors, I wish they could instill confidence that they understand what the patient is going through. It's frightening and confusing and life altering. It's not like a cold or flu or broken bone. This is going to markedly change your life. I understand that specialists are very focused, but I wish they would pay more attention to the emotional and practical realities and be more proactive to address the whole person in the context of their specialization.
Have compassion and concern that the patient understands what is happening. It may be perfunctory for you, but it's not for me. Patients want to know that the doctor is really doing what is in their best interest, not just performing a test and checking a box.
Advocacy — I have gotten very involved in advocacy through what is now called the United Porphyrias Association.
The advocacy is one-on-one and in groups.
As examples:
●One person did not realize the impact of alcohol and was still drinking red wine and bourbon every night. He is in far less pain and has fewer bad laboratory test results now that he reduced his alcohol intake. (See 'Role of diet' above.)
●I advise people to invest in getting yourself to one of the few porphyria researchers, even if you have to fly across the country. Meet with them and develop a plan. Get to know their staff and if there are protégés adjacent to their practice, as they are very rare physicians, and many are quite past typical retirement age. (See 'Learning the implications' above.)
●In another setting, I met with 100 people, farmers who came all the way from Iowa, to talk about how to choose what to wear, how ultraviolet (UV) rays go through certain materials, and the need to use covers and not rely on sunscreen that can be diluted or misapplied, or not manufactured to the same standards for ultraviolet protection (UPF). (See 'Sun protection' above.)
Through this work I have helped individuals across the country who are looking for answers, which has been very rewarding.
