Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature
| Autor: | Daniel Mimouni, Igor Snast, Yehonatan Noyman, Assi Levi, Ran Kaftory, Emmilia Hodak, Yonatan Edel, Shany Sherman, Moshe Lapidoth |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Adolescent Protoporphyria Erythropoietic Immunology Late onset Dermatology 030207 dermatology & venereal diseases 03 medical and health sciences Young Adult 0302 clinical medicine Immunology and Allergy Medicine Humans Radiology Nuclear Medicine and imaging Photosensitivity Disorders Allele Index case Alleles Genetic testing Aged medicine.diagnostic_test biology business.industry General Medicine Ferrochelatase Middle Aged medicine.disease Rash 030220 oncology & carcinogenesis Child Preschool Mutation Free erythrocyte protoporphyrin biology.protein Erythropoietic protoporphyria medicine.symptom business |
| Zdroj: | Photodermatology, photoimmunologyphotomedicineREFERENCES. 37(5) |
| ISSN: | 1600-0781 |
| Popis: | Background Inherited genetic erythropoietic protoporphyria (EPP) is characterized by a photosensitive rash that emerges during infancy or early childhood. Acquired EPP can erupt at any age, even during adulthood, and is associated with hematological disorders. A third, less-studied type of EPP is also inherited but appears later in life (during adulthood). Purpose To evaluate the characteristics of inherited genetic late-onset (IGLO) EPP. Methods A systematic comprehensive search of the literature was conducted using PubMed, Google Scholar, ScienceDirect, and clinicaltrials.gov databases. Studies describing patients with IGLO EPP were included. Additionally, we present an index case of a patient, treated at our clinic in whom inherited genetic EPP was diagnosed at age 21 years. Results The search yielded 1514 citations. Five publications were eligible for review. Along with our case, 7 patients (4 males) were included in the analysis. Mean age at disease onset was 34.2 years (range 18-69, median 30). Most patients presented with mild pruritus and rash in a photosensitive distribution. Mean level of free erythrocyte protoporphyrin IX (FEP) was 8.6 μmol/L. A mutant ferrochelatase gene (FECH) in trans to a hypomorphic FECH allele was found in 3 of the 4 patients who underwent genetic testing. Conclusion We describe the distinct features of IGLO EPP. This work emphasizes that a diagnosis of inherited genetic EPP should not be ruled out in adults with new-onset photosensitive manifestations. |
| Databáze: | OpenAIRE |
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