{"id":11204,"date":"2025-07-27T06:54:55","date_gmt":"2025-07-27T04:54:55","guid":{"rendered":"https:\/\/valintermed.com\/?p=11204"},"modified":"2025-07-27T06:54:55","modified_gmt":"2025-07-27T04:54:55","slug":"semeynaya-gipertriglitseridemiya","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/family-hypertriglyceridemia\/","title":{"rendered":"Familial hypertriglyceridemia"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Familial hypertriglyceridemia is a hereditary disorder characterized by elevated triglyceride levels in the blood, which can lead to various complications, including pancreatitis, atherosclerosis, and other cardiovascular diseases. This condition is caused by genetic mutations that affect lipid metabolism, in particular, impaired cellular sensitivity to insulin, as well as a deficiency in enzymes involved in triglyceride metabolism. Although familial hypertriglyceridemia can manifest itself in varying degrees of severity, its consequences can be serious if treatment is not started promptly.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 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 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/family-hypertriglyceridemia\/#%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\/family-hypertriglyceridemia\/#%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\/family-hypertriglyceridemia\/#%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\/family-hypertriglyceridemia\/#%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\/family-hypertriglyceridemia\/#%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\/family-hypertriglyceridemia\/#%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\/family-hypertriglyceridemia\/#%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\/family-hypertriglyceridemia\/#%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\/family-hypertriglyceridemia\/#%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\/family-hypertriglyceridemia\/#%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>Familial hypertriglyceridemia was first described in the scientific literature in the mid-20th century, but cases of elevated triglyceride levels in humans had been observed long before that, when doctors unsuccessfully tried to explain the causes of abnormal hematological parameters in their patients. One of the first researchers to draw attention to the connection between genetics and triglyceride levels was Dr. Lionel Burke. He described rare mutations that predispose to hypertriglyceridemia. Since then, increased interest in this pathology has led to significant progress in understanding its mechanisms and methods of treatment. Interestingly, among families suffering from this pathology, there are unique mutations that, although rare, can be studied to develop new therapies.<\/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>The epidemiology of familial hypertriglyceridemia shows that the disease affects approximately 1 in 500\u20131,000 people. Studies indicate that the prevalence may be higher in some ethnic groups, such as Hispanics, where it reaches 1 in 250. The total number of reported cases is increasing as research in this area deepens, due to the ability to identify genetic markers for the disease. Statistically, most cases are detected at a young age, especially in people who are overweight or have metabolic disorders.<\/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>Familial hypertriglyceridemia is most often associated with mutations in genes responsible for the synthesis and metabolism of lipoproteins. The most common are mutations in the LPL (lipoprotein lipase), APOC2 (apolipoprotein C-II) and APOA5 (apolipoprotein AV) genes. Lipoprotein lipase is responsible for the hydrolysis of triglycerides in chylomicrons and Very Low-Density Lipoproteins (VLDL), and mutations in APOC2 can prevent the activation of this enzyme. This hereditary defect is transmitted in an autosomal recessive manner, which makes the presence of an abnormal gene in both parents mandatory for the development of the disease in offspring.<\/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>There are several factors that contribute to the development of familial hypertriglyceridemia, including:<\/p>\n<ul>\n<li>Genetic predisposition - having a family history of the disease significantly increases the risk of developing it.<\/li>\n<li>Poor diet - high levels of saturated fat and carbohydrates in the diet can contribute to high triglyceride levels.<\/li>\n<li>Overweight - special attention should be paid to individuals with a body mass index over 30.<\/li>\n<li>Physical inactivity - lack of physical activity leads to a slowdown in metabolism and disruption of lipid balance.<\/li>\n<li>Carbohydrate metabolism disorders such as type 2 diabetes.<\/li>\n<li>Alcohol - Drinking alcohol can significantly increase triglyceride levels in susceptible individuals.<\/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 familial hypertriglyceridemia is based on a combination of clinical manifestations and laboratory tests. The main symptoms may include:<\/p>\n<ul>\n<li>Pain in the upper abdomen, especially after eating.<\/li>\n<li>Pancreatitis, which can be acute or chronic.<\/li>\n<li>Subcutaneous fatty formations (xanthomas) in the buttocks and on the skin around the eyes.<\/li>\n<\/ul>\n<p>Laboratory testing includes serum triglyceride levels, which should be above 150 mg\/dL for diagnosis. Optimally, the test should be performed after a 12-hour fast. Radiologic testing may include ultrasound to evaluate the pancreas. Differential diagnosis is important to exclude other conditions such as diabetes mellitus or hypothyroidism, which is achieved through additional tests for hormones and metabolized compounds. <\/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 familial hypertriglyceridemia should be comprehensive and individualized. It includes:<\/p>\n<ul>\n<li>The general approach is lifestyle changes that include a balanced diet and regular exercise.<\/li>\n<li>Pharmacological treatment - use of statins, niacin, fibrates to lower triglyceride levels, as well as newer drugs such as PCSK9 inhibitors.<\/li>\n<li>Surgical treatment may be required in cases where drug therapy is ineffective and there is a risk of serious complications.<\/li>\n<li>Other treatments may include transillumination and the use of foods rich in omega-3 fatty acids. <\/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>Statins (eg, atorvastatin, simvastatin)<\/li>\n<li>Fibrates (eg, fenofibrate, gemfibrozil)<\/li>\n<li>Niacin (vitamin B3)<\/li>\n<li>PCSK9 inhibitors (eg, alirocumab, evolocumab)<\/li>\n<li>Omega-3 fatty acids (such as EPA and DHA)<\/li>\n<li>Pancratins are drugs used to improve digestion.<\/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 patients with familial hypertriglyceridemia includes regular triglyceride testing and general health assessment. It is essential to conduct examinations at least once every 3-6 months, which allows for timely detection of possible complications. The prognosis largely depends on the success of triglyceride control and adherence to lifestyle recommendations, while untimely treatment can lead to serious consequences, including cardiovascular diseases.<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\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>Familial hypertriglyceridemia can manifest itself in different age groups, but manifestations of the disease often appear in adolescence or young adulthood. In children and adolescents, the disease can manifest itself as metabolic syndrome, while in older people, complications associated with the cardiovascular system often occur. In women, the condition may worsen in the postmenopausal period, which requires special attention to monitoring and therapy.<\/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 tests should be taken to diagnose familial hypertriglyceridemia?<\/strong> For diagnosis, it is necessary to donate blood for triglyceride levels, as well as conduct tests for LDL levels and a general lipidogram.<\/li>\n<li><strong>What is the most effective treatment for familial hypertriglyceridemia?<\/strong> Effective treatment involves a combination approach: lifestyle changes, drug therapy, and in some cases surgery.<\/li>\n<li><strong>Is it possible to completely cure this disease?<\/strong> There is no complete cure for familial hypertriglyceridemia, but monitoring triglyceride levels and following recommendations can significantly improve quality of life and reduce the risk of complications.<\/li>\n<li><strong>How often should triglyceride levels be monitored?<\/strong> It is recommended to monitor triglyceride levels every 3-6 months to monitor the effectiveness of treatment.<\/li>\n<li><strong>What foods should be excluded from the diet?<\/strong> It is recommended to avoid foods high in saturated fat and carbohydrates, such as fast food, sweets and processed foods.<\/li>\n<\/ul>\n<p>Dr. Oleg Korzhikov reminds that early diagnosis and a professional approach to the treatment of familial hypertriglyceridemia significantly increase the chances of reducing triglyceride levels and minimizing the risk of complications. It is very important to monitor your condition, follow a diet and physical activity regimen, and regularly undergo examinations by a specialist. Timely treatment and compliance with all recommendations will help maintain health and improve the quality of life.<\/p>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Familial hypertriglyceridemia is an inherited disorder characterized by elevated levels of triglycerides in the blood, which can lead to various complications, including pancreatitis,<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-11204","post","type-post","status-publish","format-standard","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11204","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=11204"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11204\/revisions"}],"predecessor-version":[{"id":16011,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/11204\/revisions\/16011"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=11204"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=11204"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=11204"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}