Recognizing EPP: Diagnostic Red Flags, Psychosocial Burden, and Confirmatory Workup

In "Recognizing EPP: Diagnostic Red Flags, Psychosocial Burden, and Confirmatory Workup," Dr. Bonkovsky turns to what should have raised suspicion sooner and how to support a young patient.

Dr. Bonkovsky says the entire history should have raised red flags, because pediatricians, internists, and dermatologists must keep a high index of suspicion for rare disease. Labeling the problem solar urticaria or eczema means the diagnosis is missed and years go by, which raises the risk of hepatic complications such as protoporphyrin gallstones and acute cholecystitis. The right tests are whole blood protoporphyrin or carefully handled plasma protoporphyrin, and commercial laboratories should be avoided.

On psychosocial burden, he advises clinicians to listen and to be sympathetic. Some patients with natural pigment can build a tan gradually from spring into summer, which may improve tolerance without implants, although this is not easy. He acknowledges there is little more to offer beyond clinical trials or, he hopes, approved therapy soon.

He then walks through the confirmatory workup. Total erythrocyte protoporphyrin shows a markedly elevated metal-free fraction, and genetic testing identifies known pathogenic ferrochelatase variants that confirm classical EPP. ALT and AST are mildly elevated, which is unusual and concerning in a 15-year-old. Bilirubin is normal, hemoglobin is 11.2, and 25-hydroxyvitamin D is low at 18 nanograms per milliliter, consistent with chronic sun avoidance. He would replace vitamin D.

The treatment plan emphasizes sun avoidance, opaque clothing, wide-brimmed hats, and mineral sunscreens containing zinc oxide or titanium dioxide, which work where conventional sunscreens do not. Despite consistent adherence, she still has breakthrough burning and swelling, even on overcast days, and Phoenix has more than 300 sunny days a year. Dr. Bonkovsky suggests the family might consider moving until she can enter a trial or approved therapies become available.

"EPP Treatment Planning: Vitamin D, Glycine Transporter Inhibition, and Liver Monitoring" follows the same patient into treatment planning, where Dr. Bonkovsky reviews guideline-based care, bitopertin trial data, and liver surveillance.