Patient empowerment and access to medicines: Insights from a scientist-patient suffering from erythropoietic protoporphyria
نویسندگان
چکیده
منابع مشابه
Laparoscopic Cholecystectomy in a Patient with Erythropoietic Protoporphyria
Erythropoietic protoporphyria (EPP) is an inherited defect in haem synthesis causing dangerous phototoxic reactions following exposure to wavelengths of light around 400nm. It can cause catastrophic post-operative complications following open surgery, in which environment various safety measures are now routinely employed. The dangers at laparoscopy have never been discussed in the literature, ...
متن کاملErythropoietic protoporphyria. IV. Protection from sunlight.
Dihydroxyacetone and lawsone, in a vanishing cream base, applied to the skin was found to protect patients with erythropoietic protoporphyria against sunlight. The use of the same ingredients in a 50% isopropyl alcohol/water solution did not induce adequate light protection. The chemically induced ultraviolet light filter in the stratum corneum allowed these patients to change their lives from ...
متن کاملErythropoietic protoporphyria
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported worldwide, with prevalence between 1:75,000 and 1:200,000. It usually manifests in early infancy upon the first sun exposures. EPP is characterised by...
متن کاملAfamelanotide for Erythropoietic Protoporphyria.
BACKGROUND Erythropoietic protoporphyria is a severe photodermatosis that is associated with acute phototoxicity. Patients with this condition have excruciating pain and a markedly reduced quality of life. We evaluated the safety and efficacy of an α-melanocyte-stimulating hormone analogue, afamelanotide, to decrease pain and improve quality of life. METHODS We conducted two multicenter, rand...
متن کاملA new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria.
We investigated the molecular defect of the ferrochelatase gene in a Japanese patient with erythropoietic protoporphyria (EPP), and identified a novel 16 base pair (574-589) deletion within exon 5. This deletion resulted in a frame-shift mutation and created a premature stop codon at amino acid position 198. The same molecular defect was also identified in his mother and a brother who had sympt...
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ژورنال
عنوان ژورنال: Medicine Access @ Point of Care
سال: 2019
ISSN: 2399-2026,2399-2026
DOI: 10.1177/2399202619865167