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Erythropoietic Protoporphyria (EPP)
Published in Charles Theisler, Adjuvant Medical Care, 2023
In erythropoietic protoporphyria (EPP), cells are unable to change the chemical por-phyrin into heme which is essential for transporting oxygen and for breaking down certain compounds in the liver. This is due to an inherited deficiency of the enzyme ferrochelatase which causes a buildup of the chemical protoporphyrin in the skin, bone marrow, red blood cells, blood plasma, skin, and eventually the liver. This results in photosensitivity (i.e., the skin is damaged by sunlight). The first symptoms usually appear in infancy or early childhood and present as an uncomfortable or painful burning sensation of the skin after sun exposure that may be accompanied by swelling and redness.1 The major complaint from this disorder is severe pain on exposure to sunlight and some types of artificial light, such as fluorescent lights (phototoxicity).2 The hands, arms, and face are the most commonly affected areas. Microcytic hypo-chromic anemia, gallstones, liver damage, and enlargement of the spleen are common in patients with EPP.1 Life expectancy is shortened.1
Non-Melanoma Skin Cancer
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Irene De Francesco, Sean Whittaker, Stephen L. Morris
One advantage of PDT is that multiple BCC tumors can be treated simultaneously, but it is a relatively inconvenient treatment option. Treatment involves a two-stage process requiring several office visits. After the topical agent is applied, patients must wait several hours (e.g., 14–18 hours for ALA; 3 hours for methyl-ALA) before the light-application phase of the treatment can be initiated. This second stage of treatment must be performed within a certain time frame after agent application. Furthermore, because single PDT treatments demonstrate poor efficacy in BCC, multiple visits may be required. Increased photosensitivity during the first stage of treatment provides additional inconvenience, because patients must avoid sunlight and bright indoor lighting. Treatment with PDT is typically associated with localized adverse events, including stinging or burning, erythema, and edema.116 Treatment with PDT is contraindicated in patients with porphyria, known allergies to porphyrins, and photosensitivity to the wavelengths of the applied light sources.116 Further development of PDT for BCC will make this a more practical and useful modality, such as, for example, the current use of methyl-ALA providing a shorter pre-exposed application phase of 3 hours.
Liver Diseases
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
At present the treatment of all forms of porphyria can only be symptomatic. Treatments include the reduction of photosensitivity by avoiding sunlight, sunscreens, and antibiotic treatment of infected lesions. The hepatic involvement can be moderated by abstaining from alcohol, drugs (particularly barbiturates), estrogens, and oral contraceptives.
Porphyria: awareness is the key to diagnosis!
Published in Acta Clinica Belgica, 2022
Benjamin Heymans, Wouter Meersseman
Furthermore, there are two specific modalities to treat PCT: regular phlebotomy and hydroxychloroquine. Both have more or less the same efficacy and need the same persistence to induce remission [10]. On the one hand, phlebotomy is the preferred option in case of iron accumulation in the liver. It is often continued till the ferritin level is at the lower border of normal. Adverse events of phlebotomy may be anaemia and syncope. Note that iron chelators are also used sometimes but that they are considered to be less effective than regular phlebotomy [11]. On the other hand, a low dose chloroquine or hydroxychloroquine once a week is an effective alternative. These molecules have shown to mobilize the reservoir of porphyrins in the hepatocytes and will accelerate the urinary elimination of these molecules. This strategy can however lead to more severe photosensitivity in the first months of treatment. Other side effects of chloroquine and hydroxychloroquine are mainly retinopathy and liver injury. The latter makes this option contraindicated in advanced liver failure.
Factors affecting adherence and patient satisfaction with treatment: a cross-sectional study of 500 patients with acne vulgaris
Published in Journal of Dermatological Treatment, 2021
Yıldız Hayran, Pınar İncel Uysal, Ayşe Öktem, Güneş Gür Aksoy, Neslihan Akdoğan, Başak Yalçın
86.2% of the patients reported side effects of the treatments. 92.6% of the side effect were mild and 7.4% were moderate to severe side effects that needed interference. Side effects varied by treatment regimen. 28.5% of the patients using oral antibiotic reported side effects. The most common side effects were gastrointestinal ones such as nausea, vomiting and diarrhea, which were seen in 26.5% of the patients. One patient using doxycycline described mild photosensitivity. Xerosis was the most common side effect in patients using topical and systemic retinoid treatments. 86.6% of the patients using topical isotretinoin and 95.6% of the patients using systemic isotretinoin reported xerosis. Other common side effects were stinging (56.1%), pruritus (52.2%), erythema (38.9%) in patients with topical isotretinoin treatment, and cheilitis (94.9%), myalgia (30.3%), and xerophthalmia (28.2%) in patients with oral treatment.
Neurological and neuropsychiatric manifestations of porphyria
Published in International Journal of Neuroscience, 2019
Yiji Suh, Jason Gandhi, Omar Seyam, Wendy Jiang, Gunjan Joshi, Noel L. Smith, Sardar Ali Khan
HC results when coproporphyrinogen III oxidase does not function properly. Coproporphyrinogen III oxidase is a mitochondrial enzyme that is responsible for catalyzing the sixth step of heme biosynthesis. This defect in enzyme is inherited as an autosomal dominant disorder [9]. When patients with HC are tested, it is revealed threat their δ-aminolaevulinic acid synthase is increased and coproporhyringogen oxidase is depressed. This supports the inference that an enzyme is malfunctional within the heme biosynthetic pathway, causing this disease to manifest [10]. This defect can cause gastrointestinal and neuropsychiatric symptoms as well as skin lesions. Skin photosensitivity are also sometimes present. A study by Brodie et al. determined that around 23% of people had neurologic manifestations, 23% had psychiatric disorders, 29% were sensitive to light, and 80% had pain within the abdominal regions [11].