erythropoietic protoporphyria
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2021 ◽  
Vol 8 ◽  
Author(s):  
Alvise Sernicola ◽  
Elena Cama ◽  
Maria Guglielmina Pelizzo ◽  
Enrico Tessarolo ◽  
Annamaria Nicolli ◽  
...  

Introduction: Subjects with erythropoietic protoporphyria rely on broad-spectrum sunscreens with high sun protection factor, which is not informative on efficacy in the absorption spectrum of protoporphyrin IX, spanning visible radiation and peaking around 408 nm. Photoactivation of protoporphyrin IX is responsible for painful skin photosensitivity in erythropoietic protoporphyria.The authors assessed the protective efficacy of six sunscreens in vitro in the absorption spectrum of protoporphyrin IX.Method: Transmittance measurements were performed in the 300–850 nm wavelengths on samples of six photoprotective products applied to polymethyl methacrylate plates. Porphyrin protection factor was calculated in the 300–700 nm region to provide a measurement for the efficacy of each product based on the action spectrum of protoporphyrin IX.Results: Product A showed the highest porphyrin protection factor among tested products with a median value of 4.22. Product A is a sunscreen containing organic filters, titanium dioxide and synthetic iron oxides, pigmentary grade active ingredients that absorb visible radiation. Other products showed inefficient protection in the visible, with transmittance between 75 and 95% at 500 nm. The low porphyrin protection factor of inorganic filter product B was attributed to particle micronization, as declared by the manufacturer.Conclusion: Adding porphyrin protection factor to sunscreen labeling could help patients with erythropoietic protoporphyria and other photosensitivity disorders identify products tailored on their specific needs. The development of sunscreens providing protection from visible radiation and excellent cosmetical tolerability could improve the lifestyle of patients with erythropoietic protoporphyria.


Author(s):  
Lydia Pathman ◽  
Martin Bennett ◽  
Yves d’Udekem ◽  
Roderic Phillips

Author(s):  
Ida M. Heerfordt ◽  
Sílvia Fontenete ◽  
Catharina M. Lerche ◽  
Hans Christian Wulf

Author(s):  
Colin P Farrell ◽  
Gaël Nicolas ◽  
Robert J. Desnick ◽  
Charles J. Parker ◽  
Jerome Lamoril ◽  
...  

The Mendelian inheritance pattern of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria is autosomal dominant, but the clinical phenotype is heterogeneous. Within the general population, penetrance is low, but among first-degree relatives of a symptomatic proband, penetrance is higher. These observations suggest that genetic factors, in addition to mutation of the specific enzyme of the biosynthetic pathway of heme, contribute to the clinical phenotype. Recent studies by others suggested that the genotype of the transporter protein ABCB6 contribute to the porphyria phenotype. Identifying the molecule(s) that are transported by ABCB6 has been problematic and has led to uncertainty with respect to how or if variants/mutants contribute to phenotypic heterogeneity. Knockout mouse models of Abcb6 have not provided a direction for investigation as homozygous knockout animals do not have a discrete phenotype. To address the proposed link between ABC6 genotype and porphyria phenotype, a large cohort of patients with acute hepatic porphyria and erythropoietic protoporphyria was analyzed. Our studies showed that ABCB6 genotype did not correlate with disease severity. Therefore, genotyping of ABCB6 in patients with acute hepatic porphyria and erythropoietic protoporphyria is not warranted.


2021 ◽  
Author(s):  
ZIMING JIANG ◽  
Xianyong Jiang ◽  
Miao Chen

Abstract Erythropoietic protoporphyria (EPP) is a rare autosomal recessive disease presented with protoporphyrin deposition, photosensitivity and even liver damage. Avatrombopag, a thrombopoietin receptor agonists, has been applied for immune thrombocytopenia and periprocedural thrombocytopenia in patients with chronic liver disease. Here, we reported the first case of a 19-year-old man with acquired aplastic anemia associated with congenital EPP. EPP has led to a severe cirrhosis and liver dysfunction in this patient, which limited hematopoietic stem cell transplantation and immunosuppressive therapy to cure aplastic anemia. We administered Avatrombopag as the first-line therapy. After 8 months, we observed that avatrombopag induced complete response of aplastic anemia safely.


2021 ◽  
Vol 2021 (3) ◽  
Author(s):  
Vanni Caruso ◽  
Biao-Xin Chai ◽  
Adrian J. L. Clark ◽  
Roger D. Cone ◽  
Alex N. Eberle ◽  
...  

Melanocortin receptors (provisional nomenclature as recommended by NC-IUPHAR [41]) are activated by members of the melanocortin family (α-MSH, β-MSH and γ-MSH forms; δ form is not found in mammals) and adrenocorticotrophin (ACTH). Endogenous antagonists include agouti and agouti-related protein. ACTH(1-24) was approved by the US FDA as a diagnostic agent for adrenal function test, whilst NDP-MSH was approved by EMA for the treatment of erythropoietic protoporphyria. Several synthetic melanocortin receptor agonists are under clinical development.


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