[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-458062-105":59,"doc-detail-458062-en":131},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":124,"head_meta":126,"extra_data":128,"updated_unix":130},105,"en","pulmonary-hypertension-in-rare-disease-overlap-neurofibromatosis-type-1-meets-sarcoidosis","Pulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis","","Case report describing severe pulmonary hypertension (PH) with right heart failure in a 66-year-old woman with longstanding neurofibromatosis type 1 (NF1) since 1973 and sarcoidosis since 2009. The patient’s history includes breast cancer treated with left mastectomy and chemotherapy, with long-term remission. The report outlines clinical presentation, diagnostic evaluation, and therapeutic course, emphasizing diagnostic challenges from multifactorial PH and the impact on targeted management decisions.",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/pulmonary-hypertension-in-rare-disease-overlap-neurofibromatosis-type-1-meets-sarcoidosis/458062/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/pulmonary-hypertension-in-rare-disease-overlap-neurofibromatosis-type-1-meets-sarcoidosis/458062.png","ImageObject",300,407,{"name":92,"@type":93},"Liam","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-03","2026-09-30",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",11,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"What conditions overlap in the reported patient?","Question",{"text":113,"@type":114},"The patient has longstanding neurofibromatosis type 1 (NF1) and sarcoidosis, and presents with severe pulmonary hypertension and right heart failure.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"How did the patient present clinically at admission?",{"text":118,"@type":114},"She had progressively worsening exertional dyspnea, bilateral lower extremity swelling, and erythematous blistering ulceration on the lower legs, along with tachycardia at presentation.",{"name":120,"@type":111,"acceptedAnswer":121},"What is emphasized regarding diagnosis and management in this case?",{"text":122,"@type":114},"The report highlights diagnostic challenges caused by multifactorial pulmonary hypertension and discusses implications for targeted management.","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},458062,1791101399,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":34,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145,"preview_page_count":4},8796095461564,"https://ap-avatar.wpscdn.com/davatar_155a257f0dc6eb9ab79c44ca47cae57d","Review began 11/17/2025  \nReview ended 11/29/2025  \nPublished 12/08/2025  \n© Copyright 2025  \nSharma et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0. , which permits unrestricted use , distribution , and reproduction in any medium , provided the original author and source are credited.  \nDOI: 10.7759/cureus.98767  \nOpen Access Case Report  \nPulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis  \nAkshay Sharma 1, Yasmin Bilal 2, Imran Yousaf 2, Pardeep Masuta 3, Deepak Gupta 2  \n1. Medicine, Luminis Health Anne Arundel Medical Center, Annapolis, USA 2. Division of Rheumatology, Department of Medicine, TidalHealth, Salisbury, USA 3. Division of Pulmonary and Critical Care, Department of Medicine, TidalHealth, Salisbury, USA  \nCorresponding author: Deepak Gupta, [dgupta62@hotmail.com](dgupta62@hotmail.com)  \nAbstract  \nWe present a case of pulmonary hypertension (PH) and right heart failure in a 66-year-old female patient with longstanding neurofibromatosis Type I (NF1) since 1973 and sarcoidosis since 2009. She had a history of breast cancer 30 years ago, which was treated with left mastectomy followed by chemotherapy, and she has remained in remission thereafter. We detail her clinical presentation, diagnostic evaluation, and therapeutic course, highlighting the diagnostic challenges posed by multifactorial PH and the implications for targeted management.  \nCategories: Cardiology, Rheumatology, Pulmonology  \nKeywords: breast cancer, leg edema, neurofibromatosis type 1 (nf1), pulmonary hypertension, pulmonary sarcoidosis  \nIntroduction  \nPulmonary hypertension (PH) is a rare complication of neurofibromatosis Type 1 (NF1) and pulmonary sarcoidosis. NF1 is an autosomal dominant genetic disorder that primarily affects the nervous system, with an estimated prevalence of approximately 1 in 3,000-4,000 individuals [1] . NF1 is associated with a spectrum of arterial vasculopathies, including the rare comorbidity of pulmonary arterial hypertension (PAH), which has been documented in several case reports [2-4]. In recognition of its multifactorial pathogenesis, NF1 was classified under Group 5 PH at the 4th World Symposium on Pulmonary Hypertension in 2008 [5] .  \nSarcoidosis is a systemic granulomatous disease that predominantly involves pulmonary parenchyma, thoracic lymph nodes, airways, and vasculature [6] . Its prevalence varies significantly by geographic region, ranging from 1-5 cases per 100,000 in East Asia to 140-160 cases per 100,000 in Sweden and Canada. In the United States, the estimated prevalence is approximately 60 cases per 100,000 [6] . Sarcoidosis-associated PH (SAPH), a recognized complication, occurs in 3-20% of patients and may affect up to 74% of those with advanced disease. Like NF1-associated PAH, SAPH is also categorized under Group 5 PH due to its complex and multifactorial etiology [7] .  \nWe present an interesting case of severe PH in a postmenopausal woman with NF1 since 1973, and sarcoidosis diagnosed in 2009. She was diagnosed with breast cancer 30 years ago, which was treated with a left mastectomy followed by chemotherapy, and she has remained in remission since then.  \nCase Presentation  \nA 66-year-old female patient with sarcoidosis, NF1, asthma, and history of breast cancer presented with three weeks of progressively worsening exertional dyspnea (New York Heart Association (NYHA) class II at baseline), bilateral lower extremity swelling, and erythema with blistering ulceration on her lower legs [8] . She did not report orthopnea, cough, fever, or any recent travel. Her medical history included sarcoidosis since 2009 involving her lungs as confirmed by bronchoscopic biopsy, history of anterior uveitis and skin nodules. Her sarcoidosis was not currently active, and she was not on any  \nimmunosuppressive medications. She had also had NF1 since 1973. She had breast cancer in 1995, which was treate","cbCainTTC7QMjk5Q","https://ap.wps.com/l/cbCainTTC7QMjk5Q","pdf",1754226,"English","# Introduction\n# Case Presentation\n# How to cite this article\n# Figure 1: Clinical timeline of medical events","[{\"question\":\"What conditions overlap in the reported patient?\",\"answer\":\"The patient has longstanding neurofibromatosis type 1 (NF1) and sarcoidosis, and presents with severe pulmonary hypertension and right heart failure.\"},{\"question\":\"How did the patient present clinically at admission?\",\"answer\":\"She had progressively worsening exertional dyspnea, bilateral lower extremity swelling, and erythematous blistering ulceration on the lower legs, along with tachycardia at presentation.\"},{\"question\":\"What is emphasized regarding diagnosis and management in this case?\",\"answer\":\"The report highlights diagnostic challenges caused by multifactorial pulmonary hypertension and discusses implications for targeted management.\"}]","Pulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis | PDF",1790751481,18]