{"id":5301,"date":"2021-03-30T22:32:34","date_gmt":"2021-03-30T22:32:34","guid":{"rendered":"https:\/\/www.pavlatou.gr\/?page_id=5301"},"modified":"2024-04-22T12:30:55","modified_gmt":"2024-04-22T12:30:55","slug":"genetic-familial-pheochromocytoma-paraganglioma-syndrome","status":"publish","type":"page","link":"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/","title":{"rendered":"Genetic \/ Familial Pheochromocytoma \/ Paraganglioma Syndrome"},"content":{"rendered":"\t<section class=\"section\" id=\"section_1306494009\">\n\t\t<div class=\"bg section-bg fill bg-fill  bg-loaded\" >\n\n\t\t\t\n\t\t\t\n\t\t\t\n\n\t\t<\/div>\n\n\t\t\n\n\t\t<div class=\"section-content relative\">\n\t\t\t\n\n  <div class=\"banner has-hover\" id=\"banner-2110330275\">\n          <div class=\"banner-inner fill\">\n        <div class=\"banner-bg fill\" >\n            <div class=\"bg fill bg-fill \"><\/div>\n                        <div class=\"overlay\"><\/div>            \n                    <\/div>\n\t\t\n        <div class=\"banner-layers container\">\n            <div class=\"fill banner-link\"><\/div>            \n   <div id=\"text-box-501025192\" class=\"text-box banner-layer x0 md-x0 lg-x0 y50 md-y50 lg-y50 res-text\">\n                                <div class=\"text-box-content text dark\">\n              \n              <div class=\"text-inner text-left\">\n                  \n<h3>GENETIC \/ FAMILIAL PHEOCHROMOCYTOMA \/ PARAGANGLIOMA SYNDROME<\/h3>\n<p>Genetic\/familial pheochromocytoma\/paraganglioma syndromes are inherited syndromes predisposing to pheochromocytoma and or paragangliomas.<\/p>\n              <\/div>\n           <\/div>\n                            \n<style>\n#text-box-501025192 .text-box-content {\n  background-color: rgba(255, 255, 255, 0.16);\n  font-size: 100%;\n}\n#text-box-501025192 .text-inner {\n  padding: 0px 0px 0px 20px;\n}\n#text-box-501025192 {\n  width: 60%;\n}\n<\/style>\n    <\/div>\n \n        <\/div>\n      <\/div>\n\n            \n<style>\n#banner-2110330275 {\n  padding-top: 600px;\n}\n#banner-2110330275 .bg.bg-loaded {\n  background-image: url(https:\/\/www.pavlatou.gr\/wp-content\/uploads\/2024\/03\/online-marketing-hIgeoQjS_iE-unsplash-1400x788.jpg);\n}\n#banner-2110330275 .overlay {\n  background-color: rgba(0, 0, 0, 0.17);\n}\n<\/style>\n  <\/div>\n\n\n\t\t<\/div>\n\n\t\t\n<style>\n#section_1306494009 {\n  padding-top: 30px;\n  padding-bottom: 30px;\n}\n<\/style>\n\t<\/section>\n\t\n\t<section class=\"section\" id=\"section_1047760815\">\n\t\t<div class=\"bg section-bg fill bg-fill  bg-loaded\" >\n\n\t\t\t\n\t\t\t\n\t\t\t\n\n\t\t<\/div>\n\n\t\t\n\n\t\t<div class=\"section-content relative\">\n\t\t\t\n<div class=\"row\"  id=\"row-1963657203\">\n\n\t<div id=\"col-2008966819\" class=\"col medium-3 small-12 large-3 col-divided\"  >\n\t\t\t\t<div class=\"col-inner text-left\"  >\n\t\t\t\n\t\t\t\n\t<div class=\"ux-menu stack stack-col justify-start ux-menu--divider-solid\">\n\t\t\n\t<div class=\"ux-menu-link flex menu-item first-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" >\n\t\t\t\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tWhat are the genetic Pheochromocytoma\/Parangioma syndromes?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item first-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ilikia-emfanisis\" >\n\t\t\t\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tAt what age develop and how these syndromes present?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item first-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#kidynos-kakoithias\" >\n\t\t\t\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tWhat is the cancer risk for people with hereditary Pheochromocytoma\/Paranganglioma syndromes?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item first-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#poia-einai\" >\n\t\t\t\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tWhich are the genetic syndromes of pheochromocytoma\/paraganglioma?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item second-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#vhl\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-menu\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tVon Hippel Lindau (VHL) disease\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#vhl-ti-einai\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tWhat is Von Hippel Lindau disease and how does it manifest?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#vhl-syxnotita\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tHow common is it?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#vhl-ilikia\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tAt what age patients with VHL develop pheochromocytomas\/paragangliomas?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#vhl-kindynos-kakoithias\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tIs there an increased risk of malignancy?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#vhl-prepei\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tWhat should carriers of the disease do?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item second-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#nevroinwmatwsi\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-menu\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tNeurofibromatosis\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#nevroinwmatwsi-ti-einai\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tWhat is Neurofibromatosis and how common is it?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#nevroinwmatwsi-ekdilosi\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tWhat are the symptoms and signs of the disease?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#nevroinwmatwsi-ilikia-emfanisis\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tAt what age do pheochromocytomas\/paragangliomas develop?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#nevroinwmatwsi-kindynos-kakoithias\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tIs there an increased risk of malignancy?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#nevroinwmatwsi-prepei\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tWhat should carriers of the disease do?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item second-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#metallakseis-enzymwn\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-menu\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tPheochromocytoma\/Paraganglioma Syndromes Due to Tricarboxylic Acid Cycle Enzymes mutations\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#sfp-ti-einai\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tWhat are the Pheochromocytoma\/Paraganglioma Syndromes due to Tricarboxylic Acid Cycle Enzymes mutations?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#sfp-ekdilosi\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tHow do familial paraganglioma syndromes 1, 2, 3, 4 present and at what age do they develop pheochromocytomas\/paragangliomas?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#sfp-kindynos-kakoithias\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tIs there an increased risk of malignancy?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<div class=\"ux-menu-link flex menu-item third-menu-item\">\n\t\t<a class=\"ux-menu-link__link flex\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#sfp-prepei\" >\n\t\t\t<i class=\"ux-menu-link__icon text-center icon-angle-right\" ><\/i>\t\t\t<span class=\"ux-menu-link__text\">\n\t\t\t\tWhat should carriers of the disease do?\t\t\t<\/span>\n\t\t<\/a>\n\t<\/div>\n\t\n\t<\/div>\n\t\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\n\t\n\n\t<div id=\"col-770250751\" class=\"col medium-8 small-12 large-8\"  >\n\t\t\t\t<div class=\"col-inner\"  >\n\t\t\t\n\t\t\t\n<h2 id=\"ti-einai\" style=\"font-size: 20px;\">What are the genetic Pheochromocytoma\/Parangioma syndromes?<\/h2>\n<div class=\"is-divider divider clearfix\" style=\"max-width:30%;background-color:rgb(155, 0, 128);\"><\/div>\n\t<div id=\"gap-174526245\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-174526245 {\n  padding-top: 20px;\n}\n<\/style>\n\t<\/div>\n\t\n<p>40% of patients with <a href=\"https:\/\/www.pavlatou.gr\/en\/en\/faioxrvmokyttwma-kai-paragaggliwma\/\">pheochromocytoma\/paraganglioma<\/a> have the disease as part of a genetic\/familial syndrome, inherited through genetic mutations. However, only 10-15% of patients are aware of a family history consistent with such a genetic mutation.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-501121917\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-501121917 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h2 id=\"ilikia-emfanisis\" style=\"font-size: 20px;\">At what age develop and how these syndromes present?<\/h2>\n<div class=\"is-divider divider clearfix\" style=\"max-width:30%;background-color:rgb(155, 0, 128);\"><\/div>\n\t<div id=\"gap-284222165\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-284222165 {\n  padding-top: 20px;\n}\n<\/style>\n\t<\/div>\n\t\n<p>The tumours in these syndromes develop at least a decade earlier (e.g. 29 years is the average age for mutations of the SDHB and SDHD genes), are often multiple, bilateral, coexist with other tumours, endocrine and non-endocrine, and are often multifocal.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-420311704\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-420311704 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h2 id=\"kidynos-kakoithias\" style=\"font-size: 20px;\">What is the cancer risk for people with hereditary Pheochromocytoma\/Paranganglioma syndromes?<\/h2>\n<div class=\"is-divider divider clearfix\" style=\"max-width:30%;background-color:rgb(155, 0, 128);\"><\/div>\n\t<div id=\"gap-1776692848\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-1776692848 {\n  padding-top: 20px;\n}\n<\/style>\n\t<\/div>\n\t\n<p>Some genetic mutations are associated with an increased risk of metastases, such as mutations in the SDHB gene, which are found in 40% of metastatic pheochromocytomas\/paragangliomas.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-1750290031\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-1750290031 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h2 id=\"poia-einai\" style=\"font-size: 20px;\">Which are the genetic syndromes of pheochromocytoma\/paraganglioma?<\/h2>\n<div class=\"is-divider divider clearfix\" style=\"max-width:30%;background-color:rgb(155, 0, 128);\"><\/div>\n\t<div id=\"gap-22597052\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-22597052 {\n  padding-top: 20px;\n}\n<\/style>\n\t<\/div>\n\t\n<p>The most common genetic syndromes of pheochromocytoma\/paraganglioma are the following:<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-1284699034\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-1284699034 {\n  padding-top: 30px;\n}\n<\/style>\n\t<\/div>\n\t\n<p><img fetchpriority=\"high\" decoding=\"async\" class=\"size-medium wp-image-6716 aligncenter\" src=\"https:\/\/www.pavlatou.gr\/wp-content\/uploads\/2024\/04\/national-cancer-institute-wTrKloP4UKw-unsplash-491x400.jpg\" alt=\"\" width=\"491\" height=\"400\" srcset=\"https:\/\/www.pavlatou.gr\/wp-content\/uploads\/2024\/04\/national-cancer-institute-wTrKloP4UKw-unsplash-491x400.jpg 491w, https:\/\/www.pavlatou.gr\/wp-content\/uploads\/2024\/04\/national-cancer-institute-wTrKloP4UKw-unsplash-982x800.jpg 982w, https:\/\/www.pavlatou.gr\/wp-content\/uploads\/2024\/04\/national-cancer-institute-wTrKloP4UKw-unsplash-768x626.jpg 768w, https:\/\/www.pavlatou.gr\/wp-content\/uploads\/2024\/04\/national-cancer-institute-wTrKloP4UKw-unsplash-1536x1251.jpg 1536w, https:\/\/www.pavlatou.gr\/wp-content\/uploads\/2024\/04\/national-cancer-institute-wTrKloP4UKw-unsplash.jpg 1920w\" sizes=\"(max-width: 491px) 100vw, 491px\" \/><\/p>\n<h3 id=\"vhl\" style=\"font-size: 20px;\"><span style=\"color: #9b0080;\">\/ \/ \/<\/span> Von Hippel Lindau (VHL) disease<\/h3>\n\t<div id=\"gap-1612891158\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-1612891158 {\n  padding-top: 20px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"vhl-ti-einai\" style=\"font-size: 17px; color: #9b0080;\"><u>&gt; What is Von Hippel Lindau disease and how does it manifest?<\/u><\/h3>\n<p>VHL is a familial syndrome, predisposing to the development of multiple vascular tumours, such as:<\/p>\n<ul>\n<li>Retinal hemangioblastomas and hemanglioblastiomas of the central nervous system<\/li>\n<li>pheochromocytomas\/paragangliomas<\/li>\n<li>kidney cysts<\/li>\n<li>kidney cancer, and<\/li>\n<li>pancreatic neuroendocrine tumours<\/li>\n<\/ul>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-603794070\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-603794070 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"vhl-syxnotita\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>How common is it?<\/u><\/h3>\n<p>The disease is inherited in the autosomal dominant pattern and its incidence is 1 in 36000 births.<\/p>\n<p>.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-16085661\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-16085661 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"vhl-ilikia\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>At what age patients with VHL develop pheochromocytomas\/paragangliomas?<\/u><\/h3>\n<p>The average age of pheochromocytoma\/paraganglioma presentation is 28 years, while the youngest age reported is 5 years. Pheochromocytomas are often bilateral.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-1661006410\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-1661006410 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"vhl-kindynos-kakoithias\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>Is there an increased risk of malignancy?<\/u><\/h3>\n<p>Patients with VHL disease are at increased risk of developing kidney cancer, which occurs in about 2\/3 of patients.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-1899440379\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-1899440379 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"vhl-prepei\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>What should carriers of the disease do?<\/u><\/h3>\n<p>Carriers of the mutation need regular monitoring, starting at birth, for early diagnosis and treatment of tumours.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-524326018\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-524326018 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"nevroinwmatwsi\" style=\"font-size: 20px;\"><span style=\"color: #9b0080;\">\/ \/ \/<\/span> Neurofibromatosis<\/h3>\n\t<div id=\"gap-74163255\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-74163255 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"nevroinwmatwsi-ti-einai\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u> What is Neurofibromatosis and how common is it?<\/u><\/h3>\n<p>Neurofibromatosis is a genetic disorder that is also inherited in an autosomal dominant pattern and its incidence is 1 in 2600-3000 individuals.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-1777435902\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-1777435902 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"nevroinwmatwsi-ekdilosi\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>What are the symptoms and signs of the disease?<\/u><\/h3>\n<p>Patients, during their lifetime, experience a number of clinical manifestations, such as:<\/p>\n<ul>\n<li>caf\u00e9 au lait spots<\/li>\n<li>nerve tumours (neurofibromas)<\/li>\n<li>inguinal and axillary freckling<\/li>\n<li>cognitive deficits<\/li>\n<li>bony abnormalities<\/li>\n<li>tumours of the central nervous system (gliomas)<\/li>\n<li>sarcomas<\/li>\n<li>pheochromocytomas\/paragangliomas<\/li>\n<\/ul>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-149249735\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-149249735 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"nevroinwmatwsi-ilikia-emfanisis\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>At what age do pheochromocytomas\/paragangliomas develop?<\/u><\/h3>\n<p>Pheochromocytoma\/paraganglioma can occur at any age from infancy to old age with an average diagnosis of 42 years.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-1446457237\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-1446457237 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"nevroinwmatwsi-kindynos-kakoithias\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>Is there an increased risk of malignancy?<\/u><\/h3>\n<p>Patients with neurofibromatosis have an increased risk of developing malignant nerve tumours, malignant tumors of the gastrointestinal system and rhabdomyosarcomas.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-757898886\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-757898886 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"nevroinwmatwsi-prepei\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>What should carriers of the disease do?<\/u><\/h3>\n<p>In this genetic syndrome as well, regular, lifetime monitoring is vital.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-271261607\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-271261607 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"metallakseis-enzymwn\" style=\"font-size: 20px;\"><span style=\"color: #9b0080;\">\/ \/ \/<\/span> Pheochromocytoma\/Paraganglioma Syndromes Due to Tricarboxylic Acid Cycle Enzymes mutations<\/h3>\n\t<div id=\"gap-3952577\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-3952577 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"sfp-ti-einai\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>What are the Pheochromocytoma\/Paraganglioma Syndromes due to Tricarboxylic Acid Cycle Enzymes mutations?<\/u><\/h3>\n<p>Such syndromes are associated with hereditary pheochromocytoma\/paraganglioma and are caused by mutations in the SDHD, SDAF2, SDHC, SDHB enzymes, which are essential for energy production in cells. They are called familial paraganglioma syndrome 1, 2, 3, 4, respectively and are inherited in an autosomal dominant pattern.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-1193205189\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-1193205189 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"sfp-ekdilosi\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>How do familial paraganglioma syndromes 1, 2, 3, 4 present and at what age do they develop pheochromocytomas\/paragangliomas?<\/u><\/h3>\n<p>The most common of these syndromes is the familial paraganglioma syndrome 1, where patients develop pheochromocytomas\/paragangliomas only if they inherit the mutation from their father rather than their mother. 50% of patients will develop tumours by the age of 31. On the other hand, carriers of the mutation for the SDHB gene develop pheochromocytomas\/paragangliomas whether they inherit the mutation from the father or the mother.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-472395792\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-472395792 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"sfp-kindynos-kakoithias\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>Is there an increased risk of malignancy?<\/u><\/h3>\n<p>Patients with familial paraganglioma syndrome 1, 2, 3, 4 have an increased risk of malignancy. For example, patients with familial paraganglioma syndrome 1 are likely to develop renal cell carcinoma and gastrointestinal stromal tumours, while carriers of the mutation for the SDHB gene have an increased risk of malignant paraganglioma and kidney cancer.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-823868242\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-823868242 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n<h3 id=\"sfp-ekdilosi\" style=\"font-size: 17px; color: #9b0080;\">&gt; <u>What should carriers of the disease do?<\/u><\/h3>\n<p>Similarly, in this genetic syndrome, regular, lifelong monitoring is vital.<\/p>\n<a href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/#ti-einai\" class=\"button secondary is-link is-xsmall lowercase\"  >\n    <span>Top<\/span>\n  <i class=\"icon-angle-right\" aria-hidden=\"true\" ><\/i><\/a>\n\n\t<div id=\"gap-1195241095\" class=\"gap-element clearfix\" style=\"display:block; height:auto;\">\n\t\t\n<style>\n#gap-1195241095 {\n  padding-top: 50px;\n}\n<\/style>\n\t<\/div>\n\t\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\n\t\n<\/div>\n\t\t<\/div>\n\n\t\t\n<style>\n#section_1047760815 {\n  padding-top: 30px;\n  padding-bottom: 30px;\n}\n<\/style>\n\t<\/section>\n\t\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":5,"featured_media":0,"parent":0,"menu_order":552,"comment_status":"closed","ping_status":"closed","template":"page-blank.php","meta":{"footnotes":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.1 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Treatment of Genetic\/Familial syndromes of pheochromocytoma\/paraganglioma by Dr. Maria Pavlatou |<\/title>\n<meta name=\"description\" content=\"Diagnosis and treatment of genetic\/familial syndromes of pheochromocytoma\/paraganglioma by the experienced endocrinologist-diabetologist Dr. Maria Pavlatou.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.pavlatou.gr\/en\/genetic-familial-pheochromocytoma-paraganglioma-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Treatment of Genetic\/Familial syndromes of pheochromocytoma\/paraganglioma by Dr. Maria Pavlatou |\" \/>\n<meta property=\"og:description\" content=\"Diagnosis and treatment of genetic\/familial syndromes of pheochromocytoma\/paraganglioma by the experienced endocrinologist-diabetologist Dr. Maria Pavlatou.\" 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