Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.
J Am Acad Dermatol
; 89(6): 1227-1237, 2023 12.
Article
in En
| MEDLINE
| ID: mdl-36041558
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Practice Guidelines as Topic
/
Dermatitis, Phototoxic
/
Genetic Diseases, X-Linked
/
Protoporphyria, Erythropoietic
/
Liver Diseases
Type of study:
Diagnostic_studies
/
Guideline
/
Screening_studies
/
Systematic_reviews
Limits:
Humans
Language:
En
Journal:
J Am Acad Dermatol
Year:
2023
Type:
Article