{"id":13136,"date":"2024-08-23T04:36:54","date_gmt":"2024-08-23T02:36:54","guid":{"rendered":"https:\/\/valintermed.com\/?p=13136"},"modified":"2024-08-23T04:36:54","modified_gmt":"2024-08-23T02:36:54","slug":"bolezn-tanzhera","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/tanner-disease\/","title":{"rendered":"Tangier disease"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Tangier disease is a rare hereditary disorder characterized by very low levels of high-density lipoproteins (HDL) and cholesterol metabolism disorders. The main cause of the disease is a mutation in the ABCA1 gene, which is involved in the transport of cholesterol and phospholipids from cells to HDL. This leads to the accumulation of cholesterol in tissues, especially in lymphoid tissue, liver and spleen, which in turn can cause various clinical manifestations, such as lymph node hypertrophy, jaundice and anemia. Tangier disease is also associated with an increased risk of atherosclerosis and cardiovascular disease, despite low total cholesterol levels.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 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\/tanner-disease\/#%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\/tanner-disease\/#%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\/tanner-disease\/#%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\/tanner-disease\/#%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\/tanner-disease\/#%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\/tanner-disease\/#%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\/tanner-disease\/#%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\/tanner-disease\/#%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\/tanner-disease\/#%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\/tanner-disease\/#%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>Tangier disease was first described in 1961 by Dr. Gordan B. Tangier, following observations of several patients in the Tangier area of Morocco. The study of this group of patients allowed the characteristic symptoms to be identified and the hereditary nature of the disease to be determined. Given the rarity of the disease, it remained poorly understood for a long time. Interestingly, the incidence of Tangier disease has been associated with specific ethnic groups, such as African Americans, indicating a predisposition of the population and the need to develop specific diagnostic and treatment methods for such groups.<\/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>According to the available data, the incidence of Tangier disease is very low, estimated at 1 case per 1 million people in the general population. However, among certain ethnic groups, such as residents of some areas of the Middle East and the Caribbean, the incidence may be significantly higher. Studies show that African Americans and North American Indians have more cases of the disease. This makes it necessary to study in depth the epidemiology and genetic aspects of the disease to effectively identify and treat patients with this pathology.<\/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>The main gene involved in the development of Tangier disease is ABCA1 (ATP-binding cassette sub-family A member 1). This gene encodes a transmembrane protein responsible for the exocytosis of cholesterol and phospholipids to the outer membrane of cells for the subsequent formation of HDL. Mutations in the ABCA1 gene lead to a disruption of this process, which, in turn, causes compensatory changes in metabolism. The most common mutations include nonsense mutations, insertions, and deletions, which can lead to the formation of a defective protein. Inheritance of the disease occurs in an autosomal recessive manner, which requires the presence of two copies of the mutant gene for the manifestation of clinical signs of the disease.<\/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>Risk factors that contribute to the development of Tangier disease include:<\/p>\n<ul>\n<li>Genetic predisposition - having a family history of the disease, especially in parents or close relatives.<\/li>\n<li>Lipid metabolism disorders are precursors to atherosclerosis or dyslipidemia.<\/li>\n<li>Ethnicity - increased incidence of the disease in certain ethnic groups, such as African Americans.<\/li>\n<li>Climate and geographic conditions - in some cases, the disease may manifest itself more frequently in atypical regions.<\/li>\n<\/ul>\n<p>Understanding these factors is important for developing strategies for early detection and treatment of the disease among the most vulnerable populations.<\/p>\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 Tangier disease involves several key steps:<\/p>\n<ul>\n<li>Main symptoms: enlarged lymph nodes, jaundice, chronic fatigue, dyspeptic disorders.<\/li>\n<li>Lab tests: Lipid tests show low HDL and elevated tissue cholesterol.<\/li>\n<li>Radiological examinations: ultrasound of the abdominal organs to assess the condition of the liver and spleen, radiography to detect enlarged lymph nodes.<\/li>\n<li>Other diagnostic tests include genetic testing to confirm a mutation in the ABCA1 gene.<\/li>\n<li>Differential diagnosis: It is necessary to exclude other types of dyslipidemia, such as familial hypercholesterolemia.<\/li>\n<\/ul>\n<p>The combination of these methods allows the doctor to establish an accurate diagnosis and determine the need for subsequent treatment.<\/p>\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 Tangier disease is complex and includes several areas:<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<ul>\n<li>General treatment: adequate nutrition, following a diet low in saturated fat and cholesterol.<\/li>\n<li>Pharmacological treatment: use of statins to control cholesterol levels, although their effectiveness may be limited due to the underlying pathogenetic mechanism of the disease.<\/li>\n<li>Surgery: In severe cases, surgery may be needed to remove enlarged lymph nodes or the spleen.<\/li>\n<li>Other treatments include consultation with a nutritionist and use of omega-3 fatty acid supplements to improve lipid metabolism.<\/li>\n<\/ul>\n<p>Treatment should be individualized depending on the clinical picture and concomitant diseases of the patient.<\/p>\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<p>Among the drugs used to treat Tangier disease are:<\/p>\n<ul>\n<li>Statins (simvastatin, atorvastatin) - to reduce cholesterol levels.<\/li>\n<li>Fibrates (gemfibrozil, fenofibrate) - to improve the lipid profile.<\/li>\n<li>Nicotinic acid - to increase HDL levels.<\/li>\n<li>Medicines with omega-3 fatty acids.<\/li>\n<\/ul>\n<p>It is important to remember that the choice of therapy depends on the individual characteristics of the patient and is carefully agreed upon with the attending physician.<\/p>\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 the patient&#039;s condition includes regular clinical observation and laboratory tests:<\/p>\n<ul>\n<li>Control stages: regular measurement of blood lipid levels, assessment of liver and spleen function.<\/li>\n<li>Prognosis: With timely diagnosis and adherence to doctor&#039;s recommendations, the prognosis can be favorable, although the risk of cardiovascular disease remains high.<\/li>\n<li>Complications: development of atherosclerosis, hypertension and other cardiovascular diseases is possible, which requires constant monitoring.<\/li>\n<\/ul>\n<p>Ensuring quality health monitoring should be a priority for patients with Tangier disease.<\/p>\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>Tangier disease can occur in people of different age groups, but let&#039;s pay attention to the following features:<\/p>\n<ul>\n<li>Children: Symptoms may appear early, but diagnosis is often late due to nonspecific features.<\/li>\n<li>Adults: The disease is most often diagnosed at the age of 30-40 years, when pronounced symptoms begin.<\/li>\n<li>Elderly: In older adults, the likelihood of diagnosis is reduced because symptoms may be perceived as natural changes associated with age.<\/li>\n<\/ul>\n<p>Thus, age-related characteristics can influence the speed of diagnosis and the adoption of necessary measures to treat patients.<\/p>\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 is Tangier disease?<\/strong> It is a rare inherited disorder characterized by low HDL levels and cholesterol metabolism disorder caused by a mutation in the ABCA1 gene.<\/li>\n<li><strong>What are the symptoms of Tangier disease?<\/strong> The main symptoms include enlarged lymph nodes, jaundice, chronic fatigue and dyspeptic disorders.<\/li>\n<li><strong>How is Tangier disease diagnosed?<\/strong> Diagnosis includes lipid analysis, genetic testing, ultrasound, and differential diagnosis with other dyslipidemias.<\/li>\n<li><strong>What treatment is recommended for patients with Tangier disease?<\/strong> Treatment may include diet, use of statins and fibrates, and surgery in severe cases.<\/li>\n<li><strong>What is the prognosis for patients with Tangier disease?<\/strong> The prognosis can be favorable provided that the doctor&#039;s recommendations are followed and the patient&#039;s health is regularly monitored.<\/li>\n<\/ul>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Tangier disease is a rare inherited disorder characterized by very low levels of high-density lipoprotein (HDL) and a disorder of cholesterol metabolism.<\/p>","protected":false},"author":1,"featured_media":23476,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-13136","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\/13136","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=13136"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13136\/revisions"}],"predecessor-version":[{"id":13784,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13136\/revisions\/13784"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/23476"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=13136"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=13136"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=13136"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}