-
The Indian Journal of Medical Research Nov 2020
Topics: Humans; Liver Diseases; Protoporphyria, Erythropoietic
PubMed: 35345089
DOI: 10.4103/ijmr.IJMR_2254_19 -
Wideochirurgia I Inne Techniki... Jun 2022Erythropoietic protoporphyria is a hereditary defect in heme synthesis, causing protoporphyrin deposition and phototoxic reactions after exposure to light, especially at...
Erythropoietic protoporphyria is a hereditary defect in heme synthesis, causing protoporphyrin deposition and phototoxic reactions after exposure to light, especially at a wavelength of about 400 nm. Sensitivity to light may cause postoperative complications. Therefore, in open surgery protective filters are employed on surgical luminaires. The dangers of laparoscopy are little understood and the intensity of the light used can be high. To protect against phototoxic injury, we inserted an OG 530 filter in the video track. This filter blocks wavelengths below 470 nm. Three cholecystectomies and one sigmoidectomies were performed laparoscopically. The procedures were uneventful, and the patients suffered no adverse reactions, including phototoxic symptoms. The filter had a moderate influence on color perception and caused no significant restrictions on working conditions. We consider that it is appropriate to develop a relevant design to meet the suitable requirements for a durable filter holder in the laparoscopic video track.
PubMed: 35707342
DOI: 10.5114/wiitm.2022.115003 -
Cureus Mar 2022Erythropoietic protoporphyria is a rare skin condition that commonly presents in childhood. We report a case of a 35-year-old Hispanic male with a history of sun...
Erythropoietic protoporphyria is a rare skin condition that commonly presents in childhood. We report a case of a 35-year-old Hispanic male with a history of sun sensitivity, presenting with complaints of immediate burning and itching of the skin on his face and upper extremities upon sun exposure. On examination, there was minimal face erythema and calluses over the knuckles. Laboratory workup demonstrated substantially increased protoporphyrin (over 10 times the upper limit of normal) along with elevated liver enzyme levels. Liver biopsy confirmed stage 4 cirrhosis. Our patient's cutaneous manifestations were the primary complaint that led to the diagnosis of his terminal hepatic illness. We recommend screening for erythropoietic protoporphyria in patients who present with a life-long history of non-blistering, burning and itching of the skin, which begins immediately upon sun exposure.
PubMed: 35449677
DOI: 10.7759/cureus.23253 -
Digestive and Liver Disease : Official... Apr 2022In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition of protoporphyrins in hepatocytes and bile canaliculi...
BACKGROUND
In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition of protoporphyrins in hepatocytes and bile canaliculi may result in liver disease. Clinically EPP related liver disease ranges from mildly elevated liver enzymes to cirrhosis and acute cholestatic hepatic failure. The prevalence of liver disease in EPP, and factors predicting the risk of developing liver disease, have not been defined in a large series of unselected EPP patients.
AIM
To determine the prevalence of liver disease in EPP-patients.
METHODS
A single-center prospective unselected cohort study of 114 adult EPP patients, who underwent routine laboratory testing, abdominal ultrasonography and transient elastography to assess the presence of steatosis (controlled attenuation parameter,dB/m) and liver stiffness (kPa).
RESULTS
114 adult EPP patients were included. Elevated liver enzymes were found in 6.2% of the patients. Liver steatosis was detected in 29.0%, and significant fibrosis as assessed with liver stiffness measurements was present in 9.6% of patients. BMI positively predicted CAP-values (p = 0.026); and protoporphyrin IX levels (p = 0.043) positively predicted liver stiffness.
CONCLUSIONS
This study demonstrates a prevalence of hepatic steatosis and fibrosis in adult EPP-patients comparable to that found in the general population. Protoporphyrin IX levels correlate with increased liver stiffness in EPP.
Topics: Adult; Cohort Studies; Humans; Liver; Liver Diseases; Prospective Studies; Protoporphyria, Erythropoietic
PubMed: 34475006
DOI: 10.1016/j.dld.2021.08.007 -
Orphanet Journal of Rare Diseases Oct 2023A new active substance called "dersimelagon" (MT-7117) is being tested as an alternative treatment option for Erythropoietic protoporphyria (EPP). At the moment,...
A new active substance called "dersimelagon" (MT-7117) is being tested as an alternative treatment option for Erythropoietic protoporphyria (EPP). At the moment, dersimelagon is being tested both in the US and in Europe in a phase III placebo-controlled RCT. However, given the availability of an already approved treatment option for EPP the use of a placebo arm is questionable from an ethics point of view. We analyze the issue and suggest that a noninferiority active-control trial without placebo is an ethically and scientifically more valid design to test the efficacy of dersimelagon as well as other EPP treatments.
Topics: Humans; Europe; Protoporphyria, Erythropoietic; Randomized Controlled Trials as Topic; United States
PubMed: 37845740
DOI: 10.1186/s13023-023-02941-w -
The British Journal of Dermatology Aug 2018
Topics: Humans; Photosensitivity Disorders; Protoporphyria, Erythropoietic; Urticaria
PubMed: 29683481
DOI: 10.1111/bjd.16684 -
Clinical Gastroenterology and... Aug 2010
Topics: Adult; Female; Histocytochemistry; Humans; Liver; Microscopy; Protoporphyria, Erythropoietic
PubMed: 20226881
DOI: 10.1016/j.cgh.2010.02.019 -
The Australasian Journal of Dermatology Aug 1998Erythropoietic protoporphyria is a rare photodermatosis for which treatment options are limited. The present report describes the clinical features of a patient with... (Review)
Review
Erythropoietic protoporphyria is a rare photodermatosis for which treatment options are limited. The present report describes the clinical features of a patient with erythropoietic protoporphyria and liver function test abnormalities associated with treatment with beta-carotene. Subsequent treatment with narrow-band UVB phototherapy resulted in marked subjective improvement in photosensitivity, which was confirmed by abolition of demonstrated abnormalities on monochromator phototesting. The therapeutic options for photosensitivity in erythropoietic protoporphyria are reviewed and discussed.
Topics: Antioxidants; Canthaxanthin; Chemical and Drug Induced Liver Injury; Child; Feces; Humans; Male; Porphyria, Hepatoerythropoietic; Protoporphyrins; Ultraviolet Rays; Ultraviolet Therapy; beta Carotene
PubMed: 9737047
DOI: 10.1111/j.1440-0960.1998.tb01278.x -
Nutrition Reviews Mar 1964
Topics: Blood Chemical Analysis; Humans; Protoporphyria, Erythropoietic
PubMed: 14128454
DOI: 10.1111/j.1753-4887.1964.tb07763.x -
Clinical and Experimental Dermatology Jan 2024
Topics: Humans; Protoporphyria, Erythropoietic; alpha-MSH
PubMed: 37831089
DOI: 10.1093/ced/llad346