{"id":1621,"date":"2021-04-07T14:39:24","date_gmt":"2021-04-07T14:39:24","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1621"},"modified":"2026-02-23T22:59:14","modified_gmt":"2026-02-23T22:59:14","slug":"clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/07\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\/","title":{"rendered":"Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines (Contributed by Dr. Lukas Nollet on behalf of all authors)"},"content":{"rendered":"<p>Hereditary defects in the <em>ABCC6<\/em> gene are common in the general population with an estimated 1% of individuals having such a defect in their genetic material. In this study, we examined the physical signs and symptoms in a group of 56 individuals having 1 <em>ABCC6<\/em> defect, called \u2018carriers\u2019. We found that 24% of carriers have typical changes in their eyes (\u2018comet-like\u2019), more than 75% have high cholesterol blood levels or take cholesterol-lowering drugs and one third of carriers have an abnormal functioning of the heart. Additionally, we found that carriers are at increased risk of developing fatty depositions in the blood vessel wall (atherosclerosis), while 26% of carriers had calcifications in abdominal organs like the kidney or liver and 28% of males had calcifications in the testicles. Because heterozygous carriers can benefit from (primary) cardiovascular prevention, we created guidelines enabling better diagnosis, treatment and follow-up. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/04\/04\/jmedgenet-2020-107565\">https:\/\/jmg.bmj.com\/content\/early\/2021\/04\/04\/jmedgenet-2020-107565<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/07\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\/untitled-44\/\" rel=\"attachment wp-att-1622\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1622\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Untitled-300x272.png\" alt=\"\" width=\"300\" height=\"272\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Untitled-300x272.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Untitled-1024x930.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Untitled-768x697.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Untitled-640x581.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Untitled.png 1041w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Hereditary defects in the ABCC6 gene are common in the general population with an estimated 1% of individuals having such a defect in their genetic material. In this study, we examined the physical signs and symptoms in a group of 56 individuals having 1 ABCC6 defect, called \u2018carriers\u2019. We found that 24% of carriers have [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/07\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1621","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines (Contributed by Dr. Lukas Nollet on behalf of all authors) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/07\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines (Contributed by Dr. Lukas Nollet on behalf of all authors) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Hereditary defects in the ABCC6 gene are common in the general population with an estimated 1% of individuals having such a defect in their genetic material. In this study, we examined the physical signs and symptoms in a group of 56 individuals having 1 ABCC6 defect, called \u2018carriers\u2019. We found that 24% of carriers have [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/07\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-04-07T14:39:24+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T22:59:14+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Untitled.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1041\" \/>\n\t<meta property=\"og:image:height\" content=\"945\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/07\\\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/07\\\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines (Contributed by Dr. Lukas Nollet on behalf of all authors)\",\"datePublished\":\"2021-04-07T14:39:24+00:00\",\"dateModified\":\"2026-02-23T22:59:14+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/07\\\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\\\/\"},\"wordCount\":173,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/07\\\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/04\\\/Untitled-300x272.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/07\\\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/07\\\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/07\\\/clinical-and-subclinical-findings-in-heterozygous-abcc6-carriers-results-from-a-belgian-cohort-and-clinical-practice-guidelines\\\/\",\"name\":\"Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines (Contributed by Dr. Lukas Nollet on behalf of all authors) - 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