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id="block-mainpagecontent" class="clearfix block block-system block-system-main-block"> <div data-history-node-id="5706" role="article" about="/2024/09/connective-tissue-disorders" class="nihnih-theme-colors-purple"> <div class="group-article-header field-group-html-element article-header"> <p class="edition-date"> <a href="/2024/09">September 2024</a> </p> <p class="edition-printer-friendly"> <a href="/sites/newsinhealth/files/2024-09/NIHNiHSep2024.pdf">Print this issue</a> </p> </div> <h1><span class="field field--name-title field--type-string field--label-hidden">Connective Tissue Disorders</span> </h1> <p class="subtitle">Recognizing and Treating Structural Defects</p> <div class="group-page-tools field-group-html-element page-tools"> <span class="page-tools-item page-tools-item-with-label"> <a aria-label="Lea este artículo en español" href="https://salud.nih.gov/recursos-de-salud/nih-noticias-de-salud/trastornos-del-tejido-conectivo">En español</a> </span> </span> <span class="page-tools-item page-tools-item-with-label"> <a href="mailto:nihnewsinhealth@od.nih.gov">Send us your comments <span class="mailto"> <span class="element-invisible">(link sends e-mail)</span> </span> </a> </span> </div> <div class="featured-media"> <div class="field field--name-field-media-featured field--type-entity-reference field--label-hidden field__item"><article class="image media media--type-image media--view-mode-featured-media-caption"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <img src="/sites/newsinhealth/files/2024-08/sep-2024-cover-illustration-family-dinner-table-grandfather-cane-son-showing-arm-overextended.jpg" alt="Illustration of a family at the dinner table, with the grandfather holding a cane and the son showing his overextended arm." title="Illustration of a family at the dinner table, with the grandfather holding a cane and the son showing his overextended arm" typeof="foaf:Image" /> </picture> </div> </article> </div> </div> <p>Our bodies are held together by structures called connective tissue. Connective tissues make up the ligaments and tendons that help your joints move. They also provide structure and flexibility for body parts, such as your skin and blood vessels.</p> <p>Damage to your connective tissue can cause serious health issues. Normal wear and tear from aging can start to erode connective tissues. So can certain <strong><span class='tooltip'><span class='qtip-text'>Conditions in which the body’s disease fighting system mistakenly attacks and destroys the body’s own cells.</span> <span class='qtip-instance-default qtip-link qtip-processed'>autoimmune diseases</span></span></strong>, like lupus, and specific connective tissue disorders. The effects of these conditions can range from mild to severe.</p> <p>Researchers are looking for better ways to diagnose and treat conditions that lead to connective tissue damage. Getting treatment may help improve a person’s quality of life. But connective tissue disorders can be hard to recognize.</p> <h3>Connecting the Dots</h3> <p>Connective tissue disorders aren’t common. Several can be passed down genetically. Those tend to run in families. Each disorder affects different body parts.</p> <p>One condition, known as Marfan syndrome, can lead to balloon-like bulges called aneurysms in blood vessels. These bulges are especially dangerous when they occur in the body’s largest blood vessel, the aorta, which carries blood to the heart. If it bursts, it can cause sudden death.</p> <p>Another disorder, called hyper-mobile Ehlers-Danlos Syndrome (or hEDS), can cause pain in the joints and other parts of the body. The condition epidermolysis bullosa (EB) weakens the skin. And the disorder osteogenesis imperfecta can make bones prone to breaking.</p> <p>Although the symptoms and affected body parts are different, these conditions all stem from damaged connective tissues. The severity of symptoms for these disorders varies widely among patients. They can range from hardly noticeable to life-threatening (see Wise Choices box).</p> <p>“Milder forms of these conditions are probably under-recognized and underdiagnosed,” says Dr. Anna Bruckner, a skin expert at the University of Colorado.</p> <p>The symptoms caused by connective tissue disorders can also often arise from many other health conditions. “And symptoms like chronic pain and chronic fatigue are often missed, or dismissed,” explains Dr. Cortney Gensemer, a genetics researcher at the Medical University of South Carolina (MUSC), who has hEDS herself.</p> <p>Tell your doctor if you have a family history of a connective tissue disorder or if you have a relative who died suddenly at a young age. That information can help with a diagnosis, explains Dr. Jason Cook, a vascular surgeon at the University of Nebraska Medical Center.</p> <h3>Finding the Cause</h3> <p>Sometimes, having a connective tissue disorder in the family can delay diagnosis, Gensemer explains.</p> <p>“People can get accustomed to thinking that something painful is normal,” she says. “You might say something to your mom and dad, and their answer might be ‘Oh, that happens to me all the time.’”</p> <p>But you can’t always be sure what’s causing your symptoms. So it’s important to talk with your doctor about any symptoms you have. Your doctor will ask about your personal and family medical history. Some common tests that look for connective disorders include imaging tests or genetic testing.</p> <p>Genetic testing on its own isn’t enough to rule out some conditions, including Marfan syndrome, Cook says. That’s because the test doesn’t detect all possible genetic factors that can lead to the condition.</p> <p>Researchers are continuing to search for the causes of connective tissue disorders. Gensemer, working with Dr. Russell Norris from MUSC, has built a registry of families living with hEDS. They’re now carrying out a large study looking for genes that can cause the condition.</p> <p>“Having a genetic test would provide a definitive, easy, objective diagnosis,” Gensemer says. “It would also let people get a diagnosis earlier.”</p> <h3>Living With Connective Tissue Disorders</h3> <p>Researchers hope that a better understanding of the causes of these disorders will eventually lead to a cure. Currently, treatments for connective tissue disorders focus on managing symptoms.</p> <p>Both Marfan syndrome and hEDS can affect your blood vessels, which makes them vulnerable to tearing. People with these conditions often need frequent monitoring. Some may eventually need surgery to make sure a blood vessel doesn’t tear.</p> <p>The same gene changes that affect the blood vessels in Marfan syndrome can also weaken the heart, Cook says. His team is studying how to repair blood vessels without putting extra stress on heart tissue.</p> <p>Treatment for connective tissue disorders needs to be personalized, Cook explains, because the same condition can affect people very differently. Medications are available to help with some symptoms of these disorders, like high blood pressure and reduced bone strength.</p> <p>Recently, the first two medications to help heal skin damage in people with EB were approved by the U.S. Food and Drug Administration. “So now having a diagnosis can open the door to treatment for these patients,” Bruckner says.</p> <p>She and her team are working on ways to repair skin damage for people with severe EB. They’re taking <strong><span class='tooltip'><span class='qtip-text'>Cells that have the ability develop into many different cell types in the body.</span> <span class='qtip-instance-default qtip-link qtip-processed'>stem cells</span></span></strong> from patients’ skin, fixing the broken gene, and then returning repaired cells to the body. They’re testing whether these cells can heal blisters that arise in people with EB and prevent new ones from forming.</p> <p>“The skin is visible, so we can just look to see whether this works,” Bruckner explains. “If it does, then we have the potential to change the stem cells into other types of cells that could potentially heal the person’s other organs.”</p> <p>“It’s potentially one treatment, and you’re done for the rest of your life,” adds Dr. Anthony Oro, a stem cell researcher at Stanford University.</p> <p>Oro and others are now working on a large NIH-funded project to make it easier to get stem cell therapies manufactured, so the treatment can be used for more patients. They’re starting with skin repair for EB. But other research teams are already looking at how to repair other tissues like bone, muscle, and heart tissue.</p> <p>“We hope this technology will be applicable to many different disorders,” Bruckner says.</p> </div> </div> </div> </div> <aside class="sidebar-second desktop:grid-col-4 l-region l-region--sidebar-second department-subnav"> <div class="region region-sidebar-second"> <div class="views-element-container clearfix block block-views block-views-blocksidebar-paragraphs-block-1" id="block-views-block-sidebar-paragraphs-block-1"> <div class="view view-sidebar-paragraphs view-id-sidebar_paragraphs view-display-id-block_1 js-view-dom-id-73100c4f4c2f9eb29a1676f1ec7d6c81e69291a166e2c71ba7baf4721084cf86"> <div class="view-content"> <div class="views-row"><div class="views-field views-field-field-sidebar-box-field-collecti"><div class="field-content"> <div class="box"> <div class="paragraph paragraph--type--sidebar-box-field-collecti paragraph--view-mode--default clearfix wise-choices"> <h3><span class="icon wise-choices"></span>Wise Choices</h3> <div class="grid-col-fill"> <div class="clearfix text-formatted field field--name-field-sidebar-box-content field--type-text-long field--label-hidden field__item"><h4>Could You Have a Connective Tissue Disorder?</h4> <p>Common signs and symptoms:</p> <p><em>Marfan Syndrome</em></p> <ul><li>Arms, legs, fingers, and toes that are long compared to your body.</li> <li>A chest wall that caves in or sticks out.</li> <li>A curved spine.</li> <li>A long, narrow face.</li> <li>Heartbeats that skip, flutter, or feel too hard or fast.</li> <li>Vision problems, like blurry vision or extreme nearsightedness.</li> </ul><p><em>Hypermobile EDS</em></p> <ul><li>Joints that stretch farther than normal (joint hypermobility).</li> <li>Joints that pop out of place (dislocations).</li> <li>Skin that is soft or velvety, highly elastic (stretchy), or bruises easily.</li> <li>Chronic pain.</li> <li>Feeling tired all the time (fatigue).</li> </ul><p><em>Epidermolysis Bullosa (EB)</em> <em>and Related Skin Conditions</em></p> <ul><li>Skin that blisters easily.</li> <li>Blisters in the mouth.</li> <li>Rough, thickened, or missing fingernails or toenails.</li> <li>Changes in the color of the skin.</li> </ul></div> </div> </div> </div> </div></div></div> </div> </div> </div> <div class="views-element-container clearfix block block-views block-views-blocksidebar-paragraphs-block-2" id="block-views-block-sidebar-paragraphs-block-2"> <div class="view view-sidebar-paragraphs view-id-sidebar_paragraphs view-display-id-block_2 js-view-dom-id-71c0ebb2b28e9993371c735b9c260ef55078f67b728afb01d86d7a0539b59364"> <div class="view-content"> <div class="views-row"><div class="views-field views-field-field-sidebar-box-field-collecti"><div class="field-content"> <div class="box"> <div class="paragraph paragraph--type--sidebar-box-field-collecti paragraph--view-mode--default clearfix find-more-information"> <h3><span class="icon find-more-information"></span>Find More Information</h3> <div class="grid-col-fill"> <div class="clearfix text-formatted field field--name-field-sidebar-box-content field--type-text-long field--label-hidden field__item"><ul><li><a href="/2023/10/heal-wound">To Heal a Wound: Helping the Skin Fix Itself</a></li> <li><a href="/2022/06/understanding-autoimmune-diseases">Understanding Autoimmune Diseases: When Your Body Turns Against You</a></li> <li><a href="/2021/05/childhood-arthritis">Childhood Arthritis: When Joint Pain Affects Kids</a></li> <li><a href="/2019/06/beating-bursitis">Beating Bursitis: Take Care of Your Joint Cushions</a></li> <li><a href="https://www.niams.nih.gov/health-topics/marfan-syndrome">Marfan Syndrome</a></li> <li><a href="https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndrome">Ehlers-Danlos Syndrome</a></li> <li><a href="https://www.niams.nih.gov/health-topics/epidermolysis-bullosa">Epidermolysis Bullosa</a></li> <li><a href="https://www.niams.nih.gov/health-topics/osteogenesis-imperfecta">Osteogenesis Imperfecta</a></li> <li><a href="https://fnih.org/our-programs/accelerating-medicines-partnership-amp/amp-cell-based-therapy-consortium/">AMP Cell-Based Therapy Consortium</a></li> </ul></div> </div> </div> </div> </div></div></div> <div class="views-row"><div class="views-field views-field-field-sidebar-box-field-collecti"><div class="field-content"> <div class="box"> <div class="paragraph paragraph--type--sidebar-box-field-collecti paragraph--view-mode--default clearfix references"> <h3><span class="icon references"></span>References</h3> <div class="grid-col-fill"> <div class="clearfix text-formatted field field--name-field-sidebar-box-content field--type-text-long field--label-hidden field__item"><p><a href="https://pubmed.ncbi.nlm.nih.gov/32629534/">Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.</a> Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA. <em>Dev Dyn</em>. 2021 Mar;250(3):318-344. doi: 10.1002/dvdy.220. Epub 2020 Aug 17. PMID:32629534.</p> <p><a href="https://pubmed.ncbi.nlm.nih.gov/38992003/">A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa.</a> Neumayer G, Torkelson JL, Li S, McCarthy K, Zhen HH, Vangipuram M, Mader MM, Gebeyehu G, Jaouni TM, Jacków-Malinowska J, Rami A, Hansen C, Guo Z, Gaddam S, Tate KM, Pappalardo A, Li L, Chow GM, Roy KR, Nguyen TM, Tanabe K, McGrath PS, Cramer A, Bruckner A, Bilousova G, Roop D, Tang JY, Christiano A, Steinmetz LM, Wernig M, Oro AE. <em>Nat Commun</em>. 2024 Jul 11;15(1):5834. doi: 10.1038/s41467-024-49400-z. 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