Hereditary angioedema: Epidemiology and burden of disease

Name: Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Uploaded: 2022-08-08T14:00:00.000Z
Duration: 3 min 45 s
Description: Based on the familial hereditary cardiomyopathy family found in our clinical work, we created a C57BL/6N mouse model with a point mutation (G823E) at the mouse MYH7 locus through CRISPR/Cas9-mediated genome engineering to verify this...

William R Lumry¹, Russell A Settipane²

¹From the University of Texas Southwestern Medical School, Dallas, Texas.

Allergy and Asthma Proceedings

|October 28, 2020

Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by swelling of subcutaneous, mucosal, and submucosal tissue without associated pruritus or wheals caused by a temporary localized increase in vascular permeability. Swelling attacks primarily affect the cutaneous tissue, abdominal viscera, genitals, or airways. <title/> Reports of the prevalence of HAE C1 inhibitor (C1-INH) deficiency varies widely, from 1:50,000 to 1:100,000. The prevalence of HAE normal C1-INH is unknown but is likely much lower than HAE C1-INH. Approximately one-third of patients with recurrent angioedema without wheals have HAE. <title/> The burden of disease for patients with HAE is substantial. Attacks are unpredictable with respect to frequency, severity, and the site that swells. Laryngeal attacks can be fatal if not treated promptly and appropriately. Feelings of stress, anxiety, and depression can trigger attacks, and begin a cycle of attacks that cause anxiety that, in turn, triggers further attacks. Despite full physical recovery between attacks, patients often experience continual emotional impairment and reduced quality of life (QoL). Absenteeism from work and presenteeism at work or educational activities for patients and caregivers increase stress and reduce productivity during and between attacks. Missed opportunities for career development are common. <title/> Significant advances have been made in the past decade to expand both acute and prophylactic treatment options for patients with HAE, lowering both the disease and treatment burden, and improving the QoL of patients with HAE.</p><button type="button" class="mt-1 cursor-pointer border-none bg-transparent p-0 font-inter text-sm font-medium text-primary hover:underline">Show more</button></div></div><div class="hidden flex-col gap-4 md:flex"><div class="flex flex-col gap-0"><div class="flex flex-col gap-3"><p class="font-inter text-sm leading-6 text-secondary"><title/> Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by swelling of subcutaneous, mucosal, and submucosal tissue without associated pruritus or wheals caused by a temporary localized increase in vascular permeability. Swelling attacks primarily affect the cutaneous tissue, abdominal viscera, genitals, or airways. <title/> Reports of the prevalence of HAE C1 inhibitor (C1-INH) deficiency varies widely, from 1:50,000 to 1:100,000. The prevalence of HAE normal C1-INH is unknown but is likely much lower than HAE C1-INH. Approximately one-third of patients with recurrent angioedema without wheals have HAE. <title/> The burden of disease for patients with HAE is substantial. Attacks are unpredictable with respect to frequency, severity, and the site that swells. Laryngeal attacks can be fatal if not treated promptly and appropriately. Feelings of stress, anxiety, and depression can trigger attacks, and begin a cycle of attacks that cause anxiety that, in turn, triggers further attacks. Despite full physical recovery between attacks, patients often experience continual emotional impairment and reduced quality of life (QoL). Absenteeism from work and presenteeism at work or educational activities for patients and caregivers increase stress and reduce productivity during and between attacks. Missed opportunities for career development are common. <title/> Significant advances have been made in the past decade to expand both acute and prophylactic treatment options for patients with HAE, lowering both the disease and treatment burden, and improving the QoL of patients with HAE.</p></div></div></div></div></div></div></div><div class="sm:px-6 md:px-0 lg:hidden" data-testid="more-related-videos-mobile"><div class="mt-0 flex w-full flex-col gap-4 pt-5 sm:pt-0 lg:mt-5 lg:gap-6 lg:pt-5 xl:m-0 xl:pt-0" data-testid="related-experiment-videos-mobile"><div class="flex flex-col gap-1"><div class="flex items-center gap-2 min-[2000px]:w-118.75!"><h2 class="font-inter text-[15.36px] font-semibold text-text-primary min-[1600px]:text-[28.8px]! min-[2000px]:text-[34px]! xl:text-[21.6px] xl:leading-8">More Related Videos</h2></div></div><div class="flex w-full flex-col gap-2 lg:gap-6"><div class="flex flex-col gap-6 sm:gap-2"><a 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rounded-sm bg-[rgba(42,42,42,0.7)] font-inter text-xs font-medium text-white">07:15</span></div><div class="flex w-full flex-col justify-center gap-2.5 p-4 sm:w-[60%] sm:p-0"><p class="cursor-pointer line-clamp-2 cursor-default font-inter text-sm leading-5 font-medium text-text-primary" data-state="closed" data-slot="tooltip-trigger">Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation</p><p class="truncate font-inter text-xs text-secondary">Published on: January 16, 2019</p><div class="flex items-center gap-1"><svg xmlns="http://www.w3.org/2000/svg" width="24" height="24" viewBox="0 0 24 24" fill="none" stroke="currentColor" stroke-width="2" stroke-linecap="round" stroke-linejoin="round" class="lucide lucide-eye size-3.5 text-text-primary" aria-hidden="true"><path d="M2.062 12.348a1 1 0 0 1 0-.696 10.75 10.75 0 0 1 19.876 0 1 1 0 0 1 0 .696 10.75 10.75 0 0 1-19.876 0"></path><circle cx="12" cy="12" 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/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F12230.jpg&w=1200&q=75 1200w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F12230.jpg&w=1920&q=75 1920w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F12230.jpg&w=2048&q=75 2048w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F12230.jpg&w=3840&q=75 3840w" src="/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F12230.jpg&w=3840&q=75"/><span class="absolute bottom-2 left-2 rounded bg-text-primary/70 px-1 py-px font-inter text-[11px] leading-4 font-medium text-white">01:11</span></div><div class="flex min-w-0 flex-1 flex-col justify-start gap-2 p-3.75 md:p-0"><p class="cursor-pointer line-clamp-2 cursor-default font-inter text-sm leading-5 font-medium text-text-primary" data-state="closed" data-slot="tooltip-trigger">Genome-wide Association Studies-GWAS</p><div class="hidden md:flex md:items-center md:gap-1"><svg xmlns="http://www.w3.org/2000/svg" width="24" height="24" viewBox="0 0 24 24" fill="none" stroke="currentColor" stroke-width="2" stroke-linecap="round" stroke-linejoin="round" class="lucide lucide-eye size-3.5 text-text-primary" aria-hidden="true"><path d="M2.062 12.348a1 1 0 0 1 0-.696 10.75 10.75 0 0 1 19.876 0 1 1 0 0 1 0 .696 10.75 10.75 0 0 1-19.876 0"></path><circle cx="12" cy="12" r="3"></circle></svg><span class="font-inter text-xs font-medium text-text-primary">15.0K</span></div><div class="relative line-clamp-2 overflow-hidden font-inter text-xs leading-4 text-secondary [&_br]:hidden [&_div]:inline [&_p]:inline [&_span]:inline ">Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.<br />GWAS does not require the identification of the target gene involved in...</div><div class="flex items-center gap-1 md:hidden"><svg xmlns="http://www.w3.org/2000/svg" width="24" height="24" viewBox="0 0 24 24" fill="none" stroke="currentColor" stroke-width="2" stroke-linecap="round" stroke-linejoin="round" class="lucide lucide-eye size-3.5 text-text-primary" aria-hidden="true"><path d="M2.062 12.348a1 1 0 0 1 0-.696 10.75 10.75 0 0 1 19.876 0 1 1 0 0 1 0 .696 10.75 10.75 0 0 1-19.876 0"></path><circle cx="12" cy="12" r="3"></circle></svg><span class="font-inter text-xs font-medium text-text-primary">15.0K</span></div></div></div></a><a href="https://www.jove.com/v/17960?utm_source=visualize.jove.com&utm_medium=related_concept_video_card" target="_blank" rel="noopener noreferrer" class="block min-w-0" data-testid="concept-video-card"><div class="flex flex-col overflow-hidden rounded bg-tertiary md:flex-row md:gap-3 md:p-3"><div class="relative aspect-video w-full shrink-0 overflow-hidden min-[2000px]:w-[237px]! md:aspect-auto md:h-28 md:w-[124px] md:rounded xl:w-[134px] 2xl:w-[167px]"><img alt="Cardiomyopathy III: Hypertrophic Cardiomyopathy" loading="lazy" decoding="async" data-nimg="fill" class="object-cover" style="position:absolute;height:100%;width:100%;left:0;top:0;right:0;bottom:0;color:transparent" sizes="(max-width: 768px) 100vw, 237px" srcSet="/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17960%2F17960_article_thumb_17960.jpg&w=640&q=75 640w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17960%2F17960_article_thumb_17960.jpg&w=750&q=75 750w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17960%2F17960_article_thumb_17960.jpg&w=828&q=75 828w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17960%2F17960_article_thumb_17960.jpg&w=1080&q=75 1080w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17960%2F17960_article_thumb_17960.jpg&w=1200&q=75 1200w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17960%2F17960_article_thumb_17960.jpg&w=1920&q=75 1920w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17960%2F17960_article_thumb_17960.jpg&w=2048&q=75 2048w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17960%2F17960_article_thumb_17960.jpg&w=3840&q=75 3840w" src="/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17960%2F17960_article_thumb_17960.jpg&w=3840&q=75"/><span class="absolute bottom-2 left-2 rounded bg-text-primary/70 px-1 py-px font-inter text-[11px] leading-4 font-medium text-white">01:29</span></div><div class="flex min-w-0 flex-1 flex-col justify-start gap-2 p-3.75 md:p-0"><p class="cursor-pointer line-clamp-2 cursor-default font-inter text-sm leading-5 font-medium text-text-primary" data-state="closed" data-slot="tooltip-trigger">Cardiomyopathy III: Hypertrophic Cardiomyopathy</p><div class="hidden md:flex md:items-center md:gap-1"><svg xmlns="http://www.w3.org/2000/svg" width="24" height="24" viewBox="0 0 24 24" fill="none" stroke="currentColor" stroke-width="2" stroke-linecap="round" stroke-linejoin="round" class="lucide lucide-eye size-3.5 text-text-primary" aria-hidden="true"><path d="M2.062 12.348a1 1 0 0 1 0-.696 10.75 10.75 0 0 1 19.876 0 1 1 0 0 1 0 .696 10.75 10.75 0 0 1-19.876 0"></path><circle cx="12" cy="12" r="3"></circle></svg><span class="font-inter text-xs font-medium text-text-primary">224</span></div><div class="relative line-clamp-2 overflow-hidden font-inter text-xs leading-4 text-secondary [&_br]:hidden [&_div]:inline [&_p]:inline [&_span]:inline ">Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. 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md:aspect-auto md:h-28 md:w-[124px] md:rounded xl:w-[134px] 2xl:w-[167px]"><img alt="Genetic Lingo" loading="lazy" decoding="async" data-nimg="fill" class="object-cover" style="position:absolute;height:100%;width:100%;left:0;top:0;right:0;bottom:0;color:transparent" sizes="(max-width: 768px) 100vw, 237px" srcSet="/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10771.jpg&w=640&q=75 640w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10771.jpg&w=750&q=75 750w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10771.jpg&w=828&q=75 828w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10771.jpg&w=1080&q=75 1080w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10771.jpg&w=1200&q=75 1200w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10771.jpg&w=1920&q=75 1920w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10771.jpg&w=2048&q=75 2048w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10771.jpg&w=3840&q=75 3840w" src="/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10771.jpg&w=3840&q=75"/><span class="absolute bottom-2 left-2 rounded bg-text-primary/70 px-1 py-px font-inter text-[11px] leading-4 font-medium text-white">01:11</span></div><div class="flex min-w-0 flex-1 flex-col justify-start gap-2 p-3.75 md:p-0"><p class="cursor-pointer line-clamp-2 cursor-default font-inter text-sm leading-5 font-medium text-text-primary" data-state="closed" data-slot="tooltip-trigger">Genetic Lingo</p><div class="hidden md:flex md:items-center md:gap-1"><svg xmlns="http://www.w3.org/2000/svg" width="24" height="24" viewBox="0 0 24 24" fill="none" stroke="currentColor" stroke-width="2" stroke-linecap="round" stroke-linejoin="round" class="lucide lucide-eye size-3.5 text-text-primary" aria-hidden="true"><path d="M2.062 12.348a1 1 0 0 1 0-.696 10.75 10.75 0 0 1 19.876 0 1 1 0 0 1 0 .696 10.75 10.75 0 0 1-19.876 0"></path><circle cx="12" cy="12" r="3"></circle></svg><span class="font-inter text-xs font-medium text-text-primary">112.4K</span></div><div class="relative line-clamp-2 overflow-hidden font-inter text-xs leading-4 text-secondary [&_br]:hidden [&_div]:inline [&_p]:inline [&_span]:inline ">Overview</div><div class="flex items-center gap-1 md:hidden"><svg xmlns="http://www.w3.org/2000/svg" width="24" height="24" viewBox="0 0 24 24" fill="none" stroke="currentColor" stroke-width="2" stroke-linecap="round" stroke-linejoin="round" class="lucide lucide-eye size-3.5 text-text-primary" aria-hidden="true"><path d="M2.062 12.348a1 1 0 0 1 0-.696 10.75 10.75 0 0 1 19.876 0 1 1 0 0 1 0 .696 10.75 10.75 0 0 1-19.876 0"></path><circle cx="12" cy="12" r="3"></circle></svg><span class="font-inter text-xs font-medium text-text-primary">112.4K</span></div></div></div></a><a href="https://www.jove.com/v/17919?utm_source=visualize.jove.com&utm_medium=related_concept_video_card" target="_blank" rel="noopener noreferrer" class="block min-w-0" data-testid="concept-video-card"><div class="flex flex-col overflow-hidden rounded bg-tertiary md:flex-row md:gap-3 md:p-3"><div class="relative aspect-video w-full shrink-0 overflow-hidden min-[2000px]:w-[237px]! md:aspect-auto md:h-28 md:w-[124px] md:rounded xl:w-[134px] 2xl:w-[167px]"><img alt="Rheumatic Heart Disease I: Introduction" loading="lazy" decoding="async" data-nimg="fill" class="object-cover" style="position:absolute;height:100%;width:100%;left:0;top:0;right:0;bottom:0;color:transparent" sizes="(max-width: 768px) 100vw, 237px" srcSet="/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17919%2F17919_article_thumb_17919.jpg&w=640&q=75 640w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17919%2F17919_article_thumb_17919.jpg&w=750&q=75 750w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17919%2F17919_article_thumb_17919.jpg&w=828&q=75 828w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17919%2F17919_article_thumb_17919.jpg&w=1080&q=75 1080w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17919%2F17919_article_thumb_17919.jpg&w=1200&q=75 1200w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17919%2F17919_article_thumb_17919.jpg&w=1920&q=75 1920w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17919%2F17919_article_thumb_17919.jpg&w=2048&q=75 2048w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17919%2F17919_article_thumb_17919.jpg&w=3840&q=75 3840w" src="/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17919%2F17919_article_thumb_17919.jpg&w=3840&q=75"/><span class="absolute bottom-2 left-2 rounded bg-text-primary/70 px-1 py-px font-inter text-[11px] leading-4 font-medium text-white">01:23</span></div><div class="flex min-w-0 flex-1 flex-col justify-start gap-2 p-3.75 md:p-0"><p class="cursor-pointer line-clamp-2 cursor-default font-inter text-sm leading-5 font-medium text-text-primary" data-state="closed" data-slot="tooltip-trigger">Rheumatic Heart Disease I: Introduction</p><div class="hidden md:flex md:items-center md:gap-1"><svg xmlns="http://www.w3.org/2000/svg" width="24" height="24" viewBox="0 0 24 24" fill="none" stroke="currentColor" stroke-width="2" stroke-linecap="round" stroke-linejoin="round" class="lucide lucide-eye size-3.5 text-text-primary" aria-hidden="true"><path d="M2.062 12.348a1 1 0 0 1 0-.696 10.75 10.75 0 0 1 19.876 0 1 1 0 0 1 0 .696 10.75 10.75 0 0 1-19.876 0"></path><circle cx="12" cy="12" r="3"></circle></svg><span class="font-inter text-xs font-medium text-text-primary">253</span></div><div class="relative line-clamp-2 overflow-hidden font-inter text-xs leading-4 text-secondary [&_br]:hidden [&_div]:inline [&_p]:inline [&_span]:inline ">Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...</div><div class="flex items-center gap-1 md:hidden"><svg xmlns="http://www.w3.org/2000/svg" width="24" height="24" viewBox="0 0 24 24" fill="none" stroke="currentColor" stroke-width="2" stroke-linecap="round" stroke-linejoin="round" class="lucide lucide-eye size-3.5 text-text-primary" aria-hidden="true"><path d="M2.062 12.348a1 1 0 0 1 0-.696 10.75 10.75 0 0 1 19.876 0 1 1 0 0 1 0 .696 10.75 10.75 0 0 1-19.876 0"></path><circle cx="12" cy="12" r="3"></circle></svg><span class="font-inter text-xs font-medium text-text-primary">253</span></div></div></div></a><a href="https://www.jove.com/v/17979?utm_source=visualize.jove.com&utm_medium=related_concept_video_card" target="_blank" rel="noopener noreferrer" class="block min-w-0" data-testid="concept-video-card"><div class="flex flex-col overflow-hidden rounded bg-tertiary md:flex-row md:gap-3 md:p-3"><div class="relative aspect-video w-full shrink-0 overflow-hidden min-[2000px]:w-[237px]! md:aspect-auto md:h-28 md:w-[124px] md:rounded xl:w-[134px] 2xl:w-[167px]"><img alt="Aneurysm I: Introduction" loading="lazy" decoding="async" data-nimg="fill" class="object-cover" style="position:absolute;height:100%;width:100%;left:0;top:0;right:0;bottom:0;color:transparent" sizes="(max-width: 768px) 100vw, 237px" srcSet="/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17979%2F17979_article_thumb_17979.jpg&w=640&q=75 640w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17979%2F17979_article_thumb_17979.jpg&w=750&q=75 750w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17979%2F17979_article_thumb_17979.jpg&w=828&q=75 828w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17979%2F17979_article_thumb_17979.jpg&w=1080&q=75 1080w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17979%2F17979_article_thumb_17979.jpg&w=1200&q=75 1200w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17979%2F17979_article_thumb_17979.jpg&w=1920&q=75 1920w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17979%2F17979_article_thumb_17979.jpg&w=2048&q=75 2048w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17979%2F17979_article_thumb_17979.jpg&w=3840&q=75 3840w" src="/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fftp_upload%2F17979%2F17979_article_thumb_17979.jpg&w=3840&q=75"/><span class="absolute bottom-2 left-2 rounded bg-text-primary/70 px-1 py-px font-inter text-[11px] leading-4 font-medium text-white">01:30</span></div><div class="flex min-w-0 flex-1 flex-col justify-start gap-2 p-3.75 md:p-0"><p class="cursor-pointer line-clamp-2 cursor-default font-inter text-sm leading-5 font-medium text-text-primary" data-state="closed" data-slot="tooltip-trigger">Aneurysm I: Introduction</p><div class="hidden md:flex md:items-center md:gap-1"><svg xmlns="http://www.w3.org/2000/svg" width="24" height="24" viewBox="0 0 24 24" fill="none" stroke="currentColor" stroke-width="2" stroke-linecap="round" stroke-linejoin="round" class="lucide lucide-eye size-3.5 text-text-primary" aria-hidden="true"><path d="M2.062 12.348a1 1 0 0 1 0-.696 10.75 10.75 0 0 1 19.876 0 1 1 0 0 1 0 .696 10.75 10.75 0 0 1-19.876 0"></path><circle cx="12" cy="12" r="3"></circle></svg><span class="font-inter text-xs font-medium text-text-primary">159</span></div><div class="relative line-clamp-2 overflow-hidden font-inter text-xs leading-4 text-secondary [&_br]:hidden [&_div]:inline [&_p]:inline [&_span]:inline ">An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...</div><div class="flex items-center gap-1 md:hidden"><svg xmlns="http://www.w3.org/2000/svg" width="24" height="24" viewBox="0 0 24 24" fill="none" stroke="currentColor" stroke-width="2" stroke-linecap="round" stroke-linejoin="round" class="lucide lucide-eye size-3.5 text-text-primary" aria-hidden="true"><path d="M2.062 12.348a1 1 0 0 1 0-.696 10.75 10.75 0 0 1 19.876 0 1 1 0 0 1 0 .696 10.75 10.75 0 0 1-19.876 0"></path><circle cx="12" cy="12" r="3"></circle></svg><span class="font-inter text-xs font-medium text-text-primary">159</span></div></div></div></a><a href="https://www.jove.com/v/10775?utm_source=visualize.jove.com&utm_medium=related_concept_video_card" target="_blank" rel="noopener noreferrer" class="block min-w-0" data-testid="concept-video-card"><div class="flex flex-col overflow-hidden rounded bg-tertiary md:flex-row md:gap-3 md:p-3"><div class="relative aspect-video w-full shrink-0 overflow-hidden min-[2000px]:w-[237px]! md:aspect-auto md:h-28 md:w-[124px] md:rounded xl:w-[134px] 2xl:w-[167px]"><img alt="Pedigree Analysis" loading="lazy" decoding="async" data-nimg="fill" class="object-cover" style="position:absolute;height:100%;width:100%;left:0;top:0;right:0;bottom:0;color:transparent" sizes="(max-width: 768px) 100vw, 237px" srcSet="/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10775.jpg&w=640&q=75 640w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10775.jpg&w=750&q=75 750w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10775.jpg&w=828&q=75 828w, /_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2Ffiles%2Fmedia%2Fscience-education%2Fscience-education-thumbs%2F10775.jpg&w=1080&q=75 1080w, 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Swelling attacks primarily affect the cutaneous tissue, abdominal viscera, genitals, or airways. Reports of the prevalence of HAE C1 inhibitor (C1-INH) deficiency varies widely, from 1:50,000 to 1:100,000. The prevalence of HAE normal C1-INH is unknown but is likely much lower than HAE C1-INH. Approximately one-third of patients with recurrent angioedema without wheals have HAE. The burden of disease for patients with HAE is substantial. Attacks are unpredictable with respect to frequency, severity, and the site that swells. Laryngeal attacks can be fatal if not treated promptly and appropriately. Feelings of stress, anxiety, and depression can trigger attacks, and begin a cycle of attacks that cause anxiety that, in turn, triggers further attacks. Despite full physical recovery between attacks, patients often experience continual emotional impairment and reduced quality of life (QoL). Absenteeism from work and presenteeism at work or educational activities for patients and caregivers increase stress and reduce productivity during and between attacks. Missed opportunities for career development are common. Significant advances have been made in the past decade to expand both acute and prophylactic treatment options for patients with HAE, lowering both the disease and treatment burden, and improving the QoL of patients with HAE."])</script><script>self.__next_f.push([1,"1c:[\"$\",\"div\",null,{\"className\":\"mx-auto w-full lg:mb-8\",\"data-testid\":\"article-page\",\"children\":[[\"$\",\"$L1f\",null,{\"schemas\":[{\"@context\":\"https://schema.org\",\"@type\":\"Organization\",\"@id\":\"https://visualize.jove.com#organization\",\"name\":\"JoVE Visualize\",\"url\":\"https://visualize.jove.com\",\"logo\":{\"@type\":\"ImageObject\",\"@id\":\"https://visualize.jove.com#logo\",\"url\":\"https://visualize.jove.com/images/logo.png\",\"contentUrl\":\"https://visualize.jove.com/images/logo.png\",\"caption\":\"JoVE Visualize\",\"inLanguage\":\"en-US\",\"width\":112,\"height\":112}},{\"@context\":\"https://schema.org\",\"@type\":\"WebSite\",\"@id\":\"https://visualize.jove.com#website\",\"url\":\"https://visualize.jove.com\",\"name\":\"JoVE Visualize\",\"alternateName\":\"Visualize\",\"publisher\":{\"@id\":\"https://visualize.jove.com#organization\"},\"inLanguage\":\"en-US\"},{\"@context\":\"https://schema.org\",\"@type\":\"WebPage\",\"@id\":\"https://visualize.jove.com/33109318-hereditary-angioedema-epidemiology-and-burden-of-disease#webpage\",\"url\":\"https://visualize.jove.com/33109318-hereditary-angioedema-epidemiology-and-burden-of-disease\",\"name\":\"Related Videos - Hereditary angioedema: Epidemiology and burden of disease\",\"isPartOf\":{\"@id\":\"https://visualize.jove.com#website\"},\"inLanguage\":\"en-US\",\"mainEntity\":{\"@id\":\"https://visualize.jove.com/33109318-hereditary-angioedema-epidemiology-and-burden-of-disease#article\"}},{\"@context\":\"https://schema.org\",\"@type\":\"ScholarlyArticle\",\"name\":\"Hereditary angioedema: Epidemiology and burden of disease\",\"abstract\":\"$20\",\"datePublished\":\"2020-10-28T00:00:00\",\"url\":\"https://visualize.jove.com/33109318-hereditary-angioedema-epidemiology-and-burden-of-disease\",\"isPartOf\":{\"@type\":\"Periodical\",\"name\":\"Allergy and asthma proceedings\"},\"author\":[{\"@type\":\"Person\",\"name\":\"William R Lumry\",\"affiliation\":{\"@type\":\"Organization\",\"name\":\"From the University of Texas Southwestern Medical School, Dallas, Texas.\"}},{\"@type\":\"Person\",\"name\":\"Russell A Settipane\",\"affiliation\":{\"@type\":\"Organization\",\"name\":\"Warren Alpert Medical School, Brown University, Providence, RI.\"}}],\"@id\":\"https://visualize.jove.com/33109318-hereditary-angioedema-epidemiology-and-burden-of-disease#article\",\"publisher\":{\"@id\":\"https://visualize.jove.com#organization\"},\"inLanguage\":\"en-US\",\"dateModified\":\"2025-07-24T00:00:00\"}]}],\"$L21\",\"$L22\",\"$L23\"]}]\n"])</script><script>self.__next_f.push([1,"1d:[\"$\",\"$L24\",null,{}]\n"])</script><script>self.__next_f.push([1,"1e:[\"$\",\"$L25\",null,{\"lang\":\"en\",\"initialData\":{\"pmid\":33109318,\"related_by_author\":[{\"pmid\":42570170,\"doi\":\"10.1007/s12016-026-09179-x\",\"title\":\"Lanadelumab Use for Hereditary Angioedema Long-Term Prophylaxis Over the Last 7 Years: A Narrative Review of Clinical and Real-World Data.\",\"journal_title\":\"Clinical reviews in allergy \u0026 immunology\",\"publish_date\":\"2026-08-08T00:00:00\"},{\"pmid\":42436759,\"doi\":\"10.1016/j.jacig.2026.100750\",\"title\":\"Sebetralstat for breakthrough attacks in patients with hereditary angioedema receiving long-term prophylaxis in KONFIDENT-S.\",\"journal_title\":\"The journal of allergy and clinical immunology. 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Swelling attacks primarily affect the cutaneous tissue, abdominal viscera, genitals, or airways. \u003ctitle/\u003e Reports of the prevalence of HAE C1 inhibitor (C1-INH) deficiency varies widely, from 1:50,000 to 1:100,000. The prevalence of HAE normal C1-INH is unknown but is likely much lower than HAE C1-INH. Approximately one-third of patients with recurrent angioedema without wheals have HAE. \u003ctitle/\u003e The burden of disease for patients with HAE is substantial. Attacks are unpredictable with respect to frequency, severity, and the site that swells. Laryngeal attacks can be fatal if not treated promptly and appropriately. Feelings of stress, anxiety, and depression can trigger attacks, and begin a cycle of attacks that cause anxiety that, in turn, triggers further attacks. Despite full physical recovery between attacks, patients often experience continual emotional impairment and reduced quality of life (QoL). Absenteeism from work and presenteeism at work or educational activities for patients and caregivers increase stress and reduce productivity during and between attacks. Missed opportunities for career development are common. \u003ctitle/\u003e Significant advances have been made in the past decade to expand both acute and prophylactic treatment options for patients with HAE, lowering both the disease and treatment burden, and improving the QoL of patients with HAE."])</script><script>self.__next_f.push([1,"23:[\"$\",\"div\",null,{\"className\":\"flex flex-col gap-6 lg:grid lg:grid-cols-[minmax(0,1fr)_minmax(320px,37.3%)] lg:items-start lg:gap-[2%]\",\"children\":[[\"$\",\"div\",null,{\"className\":\"flex w-full min-w-0 flex-col gap-4 min-[1900px]:pr-0 md:pr-8\",\"children\":[[\"$\",\"$L28\",null,{}],[\"$\",\"$L29\",null,{\"meta\":{\"title\":\"Hereditary angioedema: Epidemiology and burden of disease.\",\"titleHtml\":\"Hereditary angioedema: Epidemiology and burden of disease.\",\"authors\":[{\"name\":\"William R Lumry\",\"affiliationIds\":[1],\"orcid\":\"$undefined\"},{\"name\":\"Russell A Settipane\",\"affiliationIds\":[2],\"orcid\":\"$undefined\"}],\"affiliations\":[{\"id\":1,\"text\":\"From the University of Texas Southwestern Medical School, Dallas, Texas.\"},{\"id\":2,\"text\":\"Warren Alpert Medical School, Brown University, Providence, RI.\"}],\"journalName\":\"Allergy and Asthma Proceedings\",\"publishedDate\":\"October 28, 2020\",\"pubmedUrl\":\"https://pubmed.ncbi.nlm.nih.gov/33109318/\",\"keywords\":[],\"categoryL3\":\"Haematology\",\"journalUrl\":\"http://www.ingentaconnect.com/content/ocean/aap\"},\"currentLang\":\"en\",\"pubmedId\":\"33109318\",\"experimentVariant\":\"$undefined\",\"availableTranslations\":[],\"articleSlug\":\"33109318-hereditary-angioedema-epidemiology-and-burden-of-disease\"}],[\"$\",\"$L2a\",null,{\"summary\":{\"tldr\":\"\",\"sections\":[{\"heading\":\"Abstract:\",\"bullets\":[\"$2b\"],\"layout\":\"paragraph\"}]},\"pubmedUrl\":\"https://pubmed.ncbi.nlm.nih.gov/33109318/\",\"lang\":\"en\",\"articleId\":\"33109318\",\"articleTitle\":\"Hereditary angioedema: Epidemiology and burden of disease.\"}],false,false,false,[\"$\",\"$L2c\",null,{}]]}],[\"$\",\"$L2d\",null,{}]]}]\n"])</script></body></html>