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!

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