what's up, doc?

What's Up, Doc?

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What's Up Doc

Stay connected to not miss out on our What’s UP, Doc? section. We will post a patient question along with a physician response. The response will come from an esteemed member of the UPA Scientific Advisory Board.

Do you have a question you would like to ask a Porphyria Expert?  Send us an email at info@porphyria.org. We’d love to hear from you!

Friday, December 2

What’s UP Doc - Question of the week:
Are there guidelines for managing erythropoietic protoporphyria (EPP) and x-linked porphyria (XLP)?

UPA Scientific Advisory Board members are also members of the NIH-sponsored Porphyrias Consortium. Together, a team of these experts recently developed and published guidelines to manage EPP and XLP titled Evidence-Based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-Linked porphyria. These guidelines were highlighted this week by NIH!

study image

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare, inherited, metabolic disorders characterized by build-up of porphyrins. Porphyrins are substances that bind metals to form complexes, such as the iron found in red blood cells. The hallmark symptoms include phototoxicity (severe pain during light exposure) and photosensitivity (skin hyperreactivity to light). Due to the rarity of EPP and XLP, physicians often have limited expertise with these disorders, which can lead to delays in diagnosis.

In this study, researchers developed evidence-based consensus guidelines for the diagnosis, monitoring, and management of EPP and XLP. First, the team conducted a systematic literature review. Next, they divided topics among subcommittees of experts to reach a consensus on guidelines.

The new guidelines discuss biochemical and genetic testing for diagnosis, prevention of symptoms, management of acute phototoxicity, and pharmacologic (drug or medication) and non-pharmacologic treatment options. Researchers also discuss management, including the importance of ongoing monitoring, guidance on pregnancy and surgery, and the safety of other therapies. Authors note that these guidelines can aid in early diagnosis and management of these disorders.

Dickey AK, Naik H, Keel SB, Levy C, Beaven SW, Elmariah SB, Erwin AL, Goddu RJ, Hedstrom K, Leaf RK, Kazamel M, Mazepa M, Philpotts LL, Quigley J, Raef H, Rudnick SR, Saberi B, Thapar M, Ungar J, Wang B, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria. J Am Acad Dermatol. 2022 Aug 27:S0190-9622(22)02611-1. doi: 10.1016/j.jaad.2022.08.036. Epub ahead of print. PMID: 36041558.

The publication will soon be widely available!


Friday, October 28

What’s UP Doc - Question of the week:
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?

To respond to this question, we turned to Dr. Herbert Bonkovsky (Atrium Wake Forest Baptist Health, Winston-Salem, NC), who was the physician that first used Panhematin in a patient with Acute Intermittent Porphyria. UPA was able to record Dr. Bonkovsky’s recollection of the patient and the experience. Enjoy this video response!

To read more about Dr. Bonkovsky click here.

Monday, September 19

What’s UP Doc - Question of the week:
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?

Thank you to Dr. Sioban Keel who wrote a detailed response to this question, submitted by a patient member.

Thanks for this question. Vitamin D deficiency is associated with osteoporosis and some other findings. Vitamin D is a fat soluble vitamin and it is not naturally found in many foods. Vitamin D content of some seafood is high. Here is a link to the Dietary Guidelines of American that lists some Vitamin D dense food sources:


The major source of vitamin D for people is not from the diet. It is from its synthesis in the skin. In the skin, something called 7-dehydrocholesterol is converted to vitamin D (specifically, cholecalciferol or vitamin D3) by exposure to UV light. As patients with protoporphyria are forced to avoid sunlight to prevent phototoxic reactions, there is increased prevalence of vitamin D deficiency in protoporphyria patients.

To understand how your medical provider tests for vitamin D deficiency, you need to know that in a person, Vitamin D3 is converted enzymatically in the liver to 25-hydroxyvitamin D, the major circulating form of vitamin D, and then in the kidney to 1,25-dihydroxyvitamin D, the active form of vitamin D.

The form of vitamin D that is measured in the doctor’s office is most commonly, 25-hydoxyvitamin D.

Many experts agree that 25-hydroxyvitamin D levels below 20 ng/mL are suboptimal for bone health.

Vitamin D deficiency can be treated with supplementation. Multiple preparations of vitamin D and its metabolites are available for the treatment of vitamin D deficiency and there is debate around which formulation is optimal for supplementation. The two most commonly available forms of vitamin D supplements are cholecalciferol (aka vitamin D3) and ergocalciferol (aka vitamin D2). The amount of vitamin D required to treat vitamin D deficiency depends in part on a person’s starting level and their ability to absorb the supplement.

Evidence-based consensus guidelines for the diagnosis and management of EPP and XLP (Dickey AK et al. J Am Acad Dermatol 2022) recommend routine screening for vitamin D deficiency and supplementation as per population guidelines.

We encourage protoporphyria patients to talk to their primary care provider about vitamin D and other measures to maintain bone health (including calcium intake and weight-bearing exercise).

Sioban Keel, MD
Associate Professor of Medicine
Division of Hematology
University of Washington

Friday, July 15

What’s UP Doc - Question of the week:
I heard a doctor in a presentation say that people with porphyria should “look after their kidneys.” How do you do that?

This week our response was provided by Dr. Herbert Bonkovsky.

Persons with acute hepatic porphyries are at increased risk to develop chronic kidney disease. One likely cause of this is increased levels of ALA, which occur in some patients with AHPs.

Among other factors that can lead to chronic kidney damage are systemic arterial hypertension [high blood pressure], which should be looked for at least twice per year, such as during periodic visits with primary care providers. Many persons now have devices for monitoring BP. The idea is not more than 130/80 mmHg. Diabetes mellitus is another and major risk factor for development of chronic kidney disease, so avoiding obesity and avoiding foods with high glycemic indices are best. Avoidance of or prompt treatment of urinary tract infections is also important. Some medications can damage the kidneys and are better avoided if possible. For example amino glycoside antibiotics, chronic use of NSAIDs, chronic use of high doses of acetaminophen, which some patients take for chronic pain syndromes. Givosiran is known to lead to some adverse renal effects, so any patients chronically receiving givosiran should have urinalysis, urine protein and creatinine, and CMP with estimation of GFR performed at least every 6 months. If evidence of progressive increase in serum creatinine or urinary protein occurs, or decrease in eGFR, greater than 10% below baseline, additional evaluation should be undertaken by a medical kidney specialist [nephrologist].

To read more about Dr. Bonkovsky click here.

Friday, June 24

What’s UP Doc - Question of the week:
Can starting menopause make PCT worse/relapse? (because phlebotomies are a treatment and if you stop having periods maybe iron builds up?)

This week our response was provided by Dr. Herbert Bonkovsky.

While what the writer asks is, perhaps, possible occasionally, in practice this had not proven to be much of a factor in increasing clinical features of PCT. In 50+ years of clinical practice, we have not encountered such an occurrence. More important risk factors for PCT are alcohol, hemochromatosis, chronic hepatitis C, and estrogen use. And treatment with low-dose hydroxychloroquine and/or therapeutic phlebotomies to keep serum ferritin within the range of 25-100 ng/mL are highly effective, regardless of menopausal status.

To read more about Dr. Bonkovsky click here.

Friday, June 17

What’s UP Doc - Question of the week:
I am thinking about starting Givlaari injections. What tests should I have done before and during my treatment?

This week our response was provided by Dr. Bruce Wang of UCSF.

Prior to starting Givlaari: confirm AHP diagnosis both biochemically (urine ALA and PBG) and genetically. There should be multiple ALA and PBG results since patients should only consider Givlaari if they have experienced multiple acute attacks. This helps establish the patient’s own baseline as well as levels during attacks. Additional baseline tests before starting Givlaari include blood tests for liver function, creatinine and homocysteine.

Before each Givlaari injection (within a few days): urine test for ALA, PBG, and creatinine. The goal is to ensure that ALA and PBG are well controlled at the current Givlaari interval.

Other tests to consider while on Givlaari: Patients should be tested for liver function tests to look for liver toxicity, serum creatinine for renal toxicity, and homocysteine levels. The optimum frequency and intervals remain to be determined.

To read more about Dr. Wang click here.

See the archive of questions from January - May 2022