{"id":4422650,"date":"2025-01-12T09:09:39","date_gmt":"2025-01-12T15:09:39","guid":{"rendered":"https:\/\/myendoconsult.com\/learn\/topics\/vhl\/"},"modified":"2025-01-12T09:14:07","modified_gmt":"2025-01-12T15:14:07","slug":"vhl","status":"publish","type":"oen_topic","link":"https:\/\/myendoconsult.com\/learn\/topics\/vhl\/","title":{"rendered":"VHL"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">Overview Of VHL<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Definition &amp; Inheritance<\/strong>\n<ul class=\"wp-block-list\">\n<li>Autosomal dominant tumor suppressor disorder<\/li>\n\n\n\n<li>Characterized by multiple benign and malignant neoplasms, including hemangioblastomas (central nervous system), retinal angiomas, clear cell renal cell carcinoma, pheochromocytoma, paraganglioma, endolymphatic sac tumors, pancreatic lesions, and epididymal\/broad ligament papillary cystadenomas<\/li>\n\n\n\n<li>High penetrance: ~75% risk for renal cell carcinoma (RCC), retinal angioma, or cerebellar hemangioblastoma<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Types<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Type I<\/strong>: Low risk of pheochromocytoma<\/li>\n\n\n\n<li><strong>Type II<\/strong>: High risk of pheochromocytoma\n<ul class=\"wp-block-list\">\n<li><strong>Type IIA<\/strong>: Low risk of RCC<\/li>\n\n\n\n<li><strong>Type IIB<\/strong>: High risk of RCC<\/li>\n\n\n\n<li><strong>Type IIC<\/strong>: Pheochromocytomas only<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">Genetics<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Chromosome &amp; Gene<\/strong>\n<ul class=\"wp-block-list\">\n<li>Mutation in the <strong>VHL<\/strong> tumor suppressor gene on chromosome 3p25\u201326<\/li>\n\n\n\n<li>Functions in regulating hypoxia-induced proteins (e.g., HIF pathway)<\/li>\n\n\n\n<li>300 germline VHL mutations identified; nearly 100% detection rate in affected families<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mutation Patterns<\/strong>\n<ul class=\"wp-block-list\">\n<li>Missense mutations often linked with pheochromocytomas<\/li>\n\n\n\n<li>Null\/truncating mutations often do <strong>not<\/strong> present with pheochromocytoma<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">Pheochromocytoma<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Frequency &amp; Secretion<\/strong>\n<ul class=\"wp-block-list\">\n<li>~20% prevalence in VHL syndrome<\/li>\n\n\n\n<li>Often bilateral and multicentric<\/li>\n\n\n\n<li>Primarily secrete <strong>norepinephrine<\/strong> and <strong>normetanephrine<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Management<\/strong>\n<ul class=\"wp-block-list\">\n<li>Annual biochemical screening (e.g., plasma or urine fractionated <a href=\"https:\/\/myendoconsult.com\/learn\/metanephrines\/\"  data-wpil-monitor-id=\"312\">metanephrines<\/a>)<\/li>\n\n\n\n<li>Resect if identified, following standard pheochromocytoma management (\u03b1-blockade, etc.)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">Hemangioblastoma<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Location &amp; Features<\/strong>\n<ul class=\"wp-block-list\">\n<li>Vascular tumors in the <strong>cerebellum<\/strong>, <strong>spinal cord<\/strong>, or <strong>brainstem<\/strong><\/li>\n\n\n\n<li>May cause symptoms by mass effect or hemorrhage<\/li>\n\n\n\n<li>Typically benign; do not metastasize<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Surveillance &amp; Treatment<\/strong>\n<ul class=\"wp-block-list\">\n<li>Periodic brain\/spine imaging (MRI) every 1\u20132 years<\/li>\n\n\n\n<li>Intervention (surgery or stereotactic radiotherapy) if lesions are large, symptomatic, or rapidly growing<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">Clear Cell Renal Cell Carcinoma (RCC)<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Risk &amp; Presentation<\/strong>\n<ul class=\"wp-block-list\">\n<li>~75% of VHL patients develop RCC; a leading cause of death in VHL<\/li>\n\n\n\n<li>Typically <strong>multicentric<\/strong> and <strong>bilateral<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Surveillance &amp; Management<\/strong>\n<ul class=\"wp-block-list\">\n<li>Annual imaging (CT, MRI, or ultrasound)<\/li>\n\n\n\n<li>Early detection \u2192 nephron-sparing resection or ablative therapies<\/li>\n\n\n\n<li>Goal: preserve renal function while preventing metastatic disease<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">Retinal Angiomas<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Clinical Features<\/strong>\n<ul class=\"wp-block-list\">\n<li>May be multifocal and bilateral<\/li>\n\n\n\n<li>Can lead to hemorrhage, retinal detachment, vision loss<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Surveillance &amp; Treatment<\/strong>\n<ul class=\"wp-block-list\">\n<li>Annual ophthalmologic examination<\/li>\n\n\n\n<li>Treatment with laser photocoagulation or cryotherapy for vision-threatening lesions<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">Pancreatic Lesions<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Types<\/strong>\n<ul class=\"wp-block-list\">\n<li>Simple cysts (common)<\/li>\n\n\n\n<li>Serous cystadenomas<\/li>\n\n\n\n<li>Pancreatic <a href=\"https:\/\/myendoconsult.com\/learn\/neuroendocrine-tumor-imaging-with-in-111-octreoscan\/\"  data-wpil-monitor-id=\"313\">neuroendocrine tumors<\/a> (can be malignant)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Surveillance<\/strong>\n<ul class=\"wp-block-list\">\n<li>Imaging (often combined with renal imaging)<\/li>\n\n\n\n<li>Neuroendocrine tumors may secrete hormones (insulin, glucagon, etc.) or be nonfunctional<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">Other Lesions<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Endolymphatic Sac Tumors<\/strong>\n<ul class=\"wp-block-list\">\n<li>Arise in the temporal bone \u2192 can cause hearing loss, vertigo, tinnitus<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Papillary Cystadenomas<\/strong>\n<ul class=\"wp-block-list\">\n<li>Occur in the <strong>epididymis<\/strong> (men) and <strong>broad ligament<\/strong> (women); usually benign, bilateral, and asymptomatic<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">Clinical Screening &amp; Management<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Genetic Testing<\/strong>\n<ul class=\"wp-block-list\">\n<li>Indicated for: bilateral pheochromocytoma, early-onset pheochromocytoma, or typical VHL tumors (hemangioblastoma, etc.)<\/li>\n\n\n\n<li>Positive family history \u2192 test all at-risk relatives<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Biochemical Testing<\/strong>\n<ul class=\"wp-block-list\">\n<li>Annual screening for catecholamine-secreting tumors (pheochromocytoma) with plasma\/urine metanephrines<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Imaging Surveillance<\/strong>\n<ul class=\"wp-block-list\">\n<li>Brain\/spine MRI every 1\u20132 years for hemangioblastoma<\/li>\n\n\n\n<li>Annual abdominal imaging (kidneys, pancreas) to catch RCC or pancreatic lesions early<\/li>\n\n\n\n<li>Annual eye exam for retinal angioma<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Therapeutic Interventions<\/strong>\n<ul class=\"wp-block-list\">\n<li>Early, nephron-sparing surgery for RCC if lesion meets size\/progression criteria<\/li>\n\n\n\n<li>Resection of symptomatic hemangioblastomas or endolymphatic sac tumors<\/li>\n\n\n\n<li>Surgical removal of pheochromocytomas after appropriate preoperative medical management<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>Overview Of VHL Genetics Pheochromocytoma Hemangioblastoma Clear Cell Renal Cell Carcinoma (RCC) Retinal Angiomas Pancreatic Lesions Other Lesions Clinical Screening &amp; Management<\/p>\n","protected":false},"featured_media":0,"template":"","oen_topic_chapter":[690],"class_list":["post-4422650","oen_topic","type-oen_topic","status-publish","hentry","oen_topic_chapter-rare-genetic-conditions","post-wrapper","thrv_wrapper"],"_links":{"self":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/oen_topic\/4422650","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/oen_topic"}],"about":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/types\/oen_topic"}],"version-history":[{"count":3,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/oen_topic\/4422650\/revisions"}],"predecessor-version":[{"id":4422654,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/oen_topic\/4422650\/revisions\/4422654"}],"wp:attachment":[{"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/media?parent=4422650"}],"wp:term":[{"taxonomy":"oen_topic_chapter","embeddable":true,"href":"https:\/\/myendoconsult.com\/learn\/wp-json\/wp\/v2\/oen_topic_chapter?post=4422650"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}