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Stay connected & don't miss out on our What’s UP, Doc? section. We will post patient questions along with physician responses. Responses come from esteemed members 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!
Thank you to everyone who joined our livestream with Dr. Bruce Wang (UCSF) on Saturday, February 18, 2023!
We had some great questions on topics like:
The recording is now available on the Porphyria Together group.
What’s UP Doc - Question of the week:
Are there guidelines for managing erythropoietic protoporphyria (EPP) and x-linked porphyria (XLP)?
Response
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!
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!
https://www.porphyria.org/about-upa/scientific-advisory-board/
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?
Response
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.
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?
Response
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
