{"id":12637,"date":"2024-10-11T18:16:44","date_gmt":"2024-10-11T16:16:44","guid":{"rendered":"https:\/\/valintermed.com\/?p=12637"},"modified":"2024-10-11T18:16:44","modified_gmt":"2024-10-11T16:16:44","slug":"protoporfiriya","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/","title":{"rendered":"Protoporphyria"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Protoporphyria is a rare inherited disorder that results from a defect in hemoglobin synthesis. The disorder is caused by a deficiency of specific enzymes involved in the biosynthesis of porphyrins, which are essential precursors to hemoglobin. Protoporphyria is characterized by an accumulation of porphyrins, particularly protoporphyrin IX, in the body, which can cause a variety of clinical manifestations, including photosensitivity, anemia, and skin problems. The disease has several forms, the most well-known of which are typical protoporphyria and erythropoietic protoporphyria. Symptoms vary depending on the form of the disease and may include acute abdominal pain, liver dysfunction, and other systemic manifestations.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\" >Genetic predisposition to this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of medications used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/protoporphina\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Protoporphyria was first described in the late 19th century, but already in the early years of studying blood diseases, cases comparable to protoporphyria were identified. At that time, the disease was perceived as a rare affliction about which there was insufficient information. In the 1960s, active research began, during which the genetic basis of the disease was established. Interesting fact: during the clinical study of protoporphyria, it was found that some patients could have hypersensitivity to sunlight, which largely determined the first clinical observations. There is also evidence that some historical figures had symptoms similar to protoporphyria, although this cannot be said with certainty, since diagnostics were not available at that time.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Protoporphyria is a rare disease with an average prevalence of 1 in 100,000 to 1 in 200,000 people in high-population countries. The disease is most common in people of Northern European descent, with lower prevalence in African and Asian populations. It is known that in conditions of high insolation, the symptoms of protoporphyria can manifest themselves much more clearly. As a rule, the disease is hereditary, with the probability of transmission from affected parents being about 25% in the presence of a recessive gene.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\"><\/span>Genetic predisposition to this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Protoporphyria is caused by mutations in genes responsible for the synthesis of enzymes involved in the metabolism of porphyrins. The main gene associated with the development of this disease is the FECH gene, located on chromosome 18. Mutations in this gene lead to a deficiency of the enzyme responsible for the final stage of hemoglobin synthesis. As a rule, these mutations are recessive, and two defective alleles are required for the manifestation of the disease. Mutations in genes responsible for the activity of other enzymes in the synthesis pathway are also found. Genetic counseling is recommended for all members of families where cases of the disease have been registered in order to assess the risk and identify carriers of mutant alleles.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The main risk factors for protoporphyria include:<\/p>\n<ul>\n<li>Genetic predisposition \u2013 a family history of protoporphyria;<\/li>\n<li>Environmental factors \u2013 solar radiation, which can provoke an exacerbation of the condition;<\/li>\n<li>Psycho-emotional stress \u2013 some studies show a link between stress and exacerbations of symptoms;<\/li>\n<li>Certain medications - some medications can make your condition worse if you have a predisposition to the disease;<\/li>\n<li>The presence of concomitant diseases, such as hepatitis, which can worsen the clinical picture of protoporphyria.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Diagnosis of protoporphyria includes several stages and methods:<\/p>\n<ul>\n<li><strong>Main symptoms:<\/strong> Patients experience photosensitivity, swelling and inflammation of the skin, anemia, abdominal pain and liver dysfunction.<\/li>\n<li><strong>Laboratory tests:<\/strong> Analysis of porphyrin levels in serum, urine and faeces is the most important diagnostic method. Protoporphyrin levels may be significantly elevated.<\/li>\n<li><strong>Radiological examinations:<\/strong> Ultrasound and magnetic resonance imaging may be useful in assessing the condition of the liver and other organs.<\/li>\n<li><strong>Other types of diagnostics:<\/strong> Genetic testing to determine mutant alleles and genetic counseling.<\/li>\n<li><strong>Differential diagnosis:<\/strong> It is important to conduct a differential diagnosis with other forms of porphyria, dermatological diseases and hepatitis.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Treatment of protoporphyria involves a comprehensive approach taking into account the individual characteristics of the patient:<\/p>\n<ul>\n<li><strong>General treatment:<\/strong> Reduce time spent in the sun, use protective creams and clothing to prevent photodermatitis.<\/li>\n<li><strong>Pharmacological treatment:<\/strong> Use of beta-carotene, which can reduce skin sensitivity. Also prescribed are drugs that improve liver function.<\/li>\n<li><strong>Surgical treatment:<\/strong> In particularly severe cases, surgery, including a liver transplant, may be considered.<\/li>\n<li><strong>Other types of treatment:<\/strong> Phototherapy and the use of new technologies such as gene therapy are being actively researched but are still in the development stage.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of medications used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>Beta-carotene;<\/li>\n<li>Zolulin;<\/li>\n<li>Indomethacin;<\/li>\n<li>Metronidazole;<\/li>\n<li>Drugs that improve liver function (eg, essential phospholipids).<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Monitoring of protoporphyria includes regular follow-up examinations to assess the patient&#039;s condition:<\/p>\n<ul>\n<li><strong>Control stages:<\/strong> Regular testing of porphyrin levels, liver function tests, and complete blood counts are necessary.<\/li>\n<li><strong>Forecast:<\/strong> Early diagnosis and treatment can significantly improve quality of life and reduce the number of exacerbations.<\/li>\n<li><strong>Complications:<\/strong> Improper management of the disease can lead to serious complications, including liver failure, metabolic disorders, and other systemic disturbances.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Protoporphyria can manifest itself at any age, but the age at which clinical symptoms begin to develop varies:<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<ul>\n<li>In infants and young children, symptoms may be vague and misinterpreted as dermatological or infectious diseases;<\/li>\n<li>In adolescents, symptoms may be more severe due to hormonal changes;<\/li>\n<li>In older people, protoporphyria can be combined with other diseases, which complicates diagnosis.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What are the main symptoms of protoporphyria?<\/strong> The main symptoms are photosensitivity, abdominal pain, anemia, dermatological disorders.<\/li>\n<li><strong>How is protoporphyria diagnosed?<\/strong> Diagnosis includes laboratory tests for porphyrin levels, genetic tests, and clinical assessment.<\/li>\n<li><strong>What treatment is recommended for protoporphyria?<\/strong> Treatment includes drug therapy, lifestyle changes, and in severe cases, surgery.<\/li>\n<li><strong>What is the prevention of exacerbations of protoporphyria?<\/strong> Prevention is based on avoiding sunlight, following a regimen and monitoring the condition of the liver.<\/li>\n<li><strong>Does age affect the course of protoporphyria?<\/strong> Yes, age can influence the presentation of symptoms and associated medical conditions, which is important to consider when treating.<\/li>\n<\/ul>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Protoporphyria is a rare inherited disorder that results from a disorder in the synthesis of hemoglobin. The disorder is associated with a deficiency of specific enzymes involved in<\/p>","protected":false},"author":1,"featured_media":22064,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-12637","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12637","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=12637"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12637\/revisions"}],"predecessor-version":[{"id":14442,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12637\/revisions\/14442"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/22064"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=12637"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=12637"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=12637"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}