Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria - 11/11/23

Doi : 10.1016/j.jaad.2022.08.036

Amy K. Dickey, MD, MSC ^a,^b, Hetanshi Naik, PhD, MS, CGC ^c, Siobán B. Keel, MD ^d, Cynthia Levy, MD ^e, Simon W. Beaven, MD, PhD ^f, Sarina B. Elmariah, MD, PhD, MPH ^b,^g, Angelika L. Erwin, MD, PhD ^h, Robert J. Goddu, BS ⁱ, Karli Hedstrom, MPH ^c, Rebecca K. Leaf, MD ^b,^j, Mohamed Kazamel, MD ^k, Marshall Mazepa, MD ^l, Lisa Liang Philpotts, RN, MSLS ^m, John Quigley, MD ⁿ, Haya Raef, MD, MS ^a,^g, Sean R. Rudnick, MD ^o, Behnam Saberi, MD ^b,^p, Manish Thapar, MD ^q, Jonathan Ungar, MD ^r, Bruce Wang, MD ^s, Manisha Balwani, MD, MS ^c,^⁎
on behalf of the
Porphyrias Consortium of the Rare Diseases Clinical Research Network
^a Division of Pulmonary and Critical Care Medicine, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts
^b Harvard Medical School, Boston, Massachusetts
^c Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York
^d Division of Hematology, University of Washington School of Medicine, Seattle, Washington
^e Division of Digestive Health and Liver Diseases, University of Miami Miller School of Medicine, Miami, Florida
^f Vatche & Tamar Manoukian Division of Digestive Diseases, David Geffen School of Medicine, University of California Los Angeles Medical Center, Los Angeles, California
^g Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts
^h Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, Ohio
ⁱ Division of Continuing Education, University of Colorado Boulder, Boulder, Colorado
^j Division of Hematology and Oncology, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts
^k Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama
^l Division of Hematology and Oncology, University of Minnesota Medical Center, Minneapolis, Minnesota
^m Treadwell Library, Massachusetts General Hospital, Boston, Massachusetts
ⁿ Division of Hematology/Oncology, Department of Medicine, University of Illinois Chicago, Chicago, Illinois
^o Department of Internal Medicine, Section on Gastroenterology and Hepatology, Atrium Health Wake Forest Baptist, Winston-Salem, North Carolina
^p Division of Gastroenterology, Beth Israel Deaconess Medical Center, Boston, Massachusetts
^q Division of Gastroenterology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania
^r Department of Dermatology, Mount Sinai Hospital, New York, New York
^s Department of Medicine, University of California San Francisco Medical Center, San Francisco, California

^∗Correspondence to: Manisha Balwani, MD, MS, Professor, Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences and Medicine, 1428 Madison Ave, 1st Floor, New York, NY 10029.ProfessorDivision of Medical Genetics and GenomicsDepartment of Genetics and Genomic Sciences and Medicine1428 Madison Ave, 1st FloorNew YorkNY10029

Abstract

Erythropoietic protoporphyria and X-linked protoporphyria are rare genetic photodermatoses. Limited expertise with these disorders among physicians leads to diagnostic delays. Here, we present evidence-based consensus guidelines for the diagnosis, monitoring, and management of erythropoietic protoporphyria and X-linked protoporphyria. A systematic literature review was conducted, and reviewed among subcommittees of experts, divided by topic. Consensus on guidelines was reached within each subcommittee and then among all members of the committee. The appropriate biochemical and genetic testing to establish the diagnosis is reviewed in addition to the interpretation of results. Prevention of symptoms, management of acute phototoxicity, and pharmacologic and nonpharmacologic treatment options are discussed. The importance of ongoing monitoring for liver disease, iron deficiency, and vitamin D deficiency is discussed with management guidance. Finally, management of pregnancy and surgery and the safety of other therapies are summarized. We emphasize that these are multisystemic disorders that require longitudinal monitoring. These guidelines provide a structure for evidence-based diagnosis and management for practicing physicians. Early diagnosis and management of these disorders are essential, particularly given the availability of new and emerging therapies.

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Key words : consensus, cutaneous porphyria, diagnosis, erythropoietic protoporphyria, EPP, evidence-based, guidelines, management, photodermatoses, protoporphyria, X-linked protoporphyria, XLP

Abbreviation used : ALAD, ALAS2, CPOX, DTT, EPP, FECH, MC1R, NSAIDS, PBGD, PPOX, PRISMA, ULN, UROD, UROS, XLP

Plan

Management of dermatologic symptoms

Management of anemia

Monitoring liver function

Miscellaneous guidelines

Conclusion

	Funding sources: The Porphyrias Consortium (U54DK083909) is part of Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), NCATS. This consortium is funded through collaboration between NCATS and NIDDK. Dr Dickey has received funding from a NIAMS K23 grant 1K23AR079586-01.
	IRB approval status: Not applicable.
	Reprints not available from the authors.

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Vol 89 - N° 6

P. 1227-1237 - décembre 2023 Retour au numéro

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Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria - 11/11/23

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