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What Is Ehlers-Danlos Syndrome, The Genetic Disorder Singer Sia Is ...
Sia, the songwriter and performer known for such hits as "Cheap Thrills" and "Titanium," is almost as famous for her reclusiveness as for her music. Following the release of her breakthrough album 1000 Forms of Fear in 2013, the Australian singer performed without showing her face, sometimes facing the back of the stage or wearing oversized wigs with bangs that covered her nose.
But on Friday the 43-year-old singer, whose real name is Sia Furler, shared an intimate detail about herself, revealing to fans on Twitter that she suffers from chronic pain related to Ehlers-Danlos syndrome, which she called "a neurological disease." She offered a message of support to everyone else experiencing pain.
The Mayo Clinic describes Ehlers-Danlos syndrome as "a group of inherited disorders that affect your connective tissues—primarily your skin, joints and blood vessel walls." EDS symptoms vary, but those with the inherited condition often have extremely flexible joints and stretchy, fragile skin.
The Ehlers-Danlos Society lists 13 types of the disease, including arthrochalasia EDS, which involves hips displacement; brittle cornea syndrome, which affects the eyes; and hypermobile EDS.
While doctors did not use to associate Ehlers-Danlos with neurological symptoms, researchers are starting to understand the condition's neurological impacts. In a 2014 paper published by the National Institutes of Health and the Iranian Journal of Neurology, researchers wrote that: "Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias."
Sia speaks onstage duing The Daily Front Row Fashion LA Awards 2019 on March 17, 2019 in Los Angeles, California. The famously private singer told fans she suffers from Ehlers Danos syndrome in a tweet... Sia speaks onstage duing The Daily Front Row Fashion LA Awards 2019 on March 17, 2019 in Los Angeles, California. The famously private singer told fans she suffers from Ehlers Danos syndrome in a tweet Friday. More Neilson Barnard/GettyA particularly dangerous form of Ehlers-Danlos syndrome, called Ehlers-Danlos syndrome, vascular type, can include weakness of the aorta (the main artery connected to the heart), the intestines or the uterus. People with Ehlers-Danlos syndrome, vascular type are at risk of these organs rupturing, which can be fatal.
Not everyone who has Ehlers-Danlos syndrome is at increased risk of death, however, and some have even capitalized on the flexibility the condition can cause. EDS is sometimes referred to as "Cirque du Soleil disease," because a large number of contortionists and acrobats like those employed by the Canadian performance troupe exhibit the hypermobile type of Ehlers-Danlos syndrome.
The "Elastic Heart" singer is not alone in her diagnosis. Besides a large number of gymnasts, celebrities including The Good Place actor Jameela Jamil and Girls creator Lena Dunham have also shared their experiences and struggles with EDS symptoms. Worldwide, the syndrome is believed to effect one in every 5,000 people.
What Is Ehlers-Danlos Syndrome? MDs ExplainPS Health - POPSUGAR
This informational guide, part of PS's Condition Center, lays out the realities of this health concern: what it is, what it can look like, and strategies that medical experts say are proven to help. You should always consult your doctor regarding matters pertaining to your health and before starting any course of medical treatment.
Ehlers-Danlos syndrome (EDS) is a genetic condition that makes the connective tissue in your body much weaker and more fragile than it should be, per the Cleveland Clinic. The condition is rare, but experts categorize EDS into 13 different types, each with its own genetic cause and set of symptoms, mostly involving increased joint mobility and skin abnormalities, David Clarke, MD, tells PS.
Unfortunately, there is no cure for EDS, but certain treatment options can help ease pain, manage symptoms, and prevent further complications. Ahead, three doctors outline everything you need to know about EDS, including the symptoms, causes, diagnosis, and treatment.
Experts Featured in This Article
David Clarke, MD, is a double-board certified internal medicine physician and gastroenterologist and president of the Association for Treatment of Neuroplastic Symptoms.
Christopher Hollingsworth, MD, is a board-certified general surgeon.
Brett Shore, MD, is a board-certified orthopedic surgeon at DISC Sports and Spine Center.
What Is Ehlers-Danlos Syndrome?
"Ehlers-Danlos syndrome is a group of inherited genetic disorders that affect connective tissues in the body, and these disorders are characterized by defects in collagen formation and function," Dr. Clarke says. "Collagen is a fibrous protein that provides structure, strength, and support to many parts of the body, and consequently, the defects in collagen can impact various organ systems and lead to a wide range of symptoms and complications." According to the 2017 EDS International Classification system, there are currently 13 types of EDS, each with its own genetic cause and set of clinical criteria. Celebrities like Jameela Jamil and Gigi Robinson have both been open about their unique experiences with EDS.
The disorder presents in a variety of forms, but all share similar features and involve weakened, fragile, hyper-elastic tissues that can affect the heart, joints, blood vessels, skin, eyes, teeth, and muscles, says Christopher Hollingsworth, MD. "Ehlers-Danlos syndrome is a rare disorder that affects 0.02 percent of the population, though it runs in families that carry the gene," he explains. It seems to affect all races equally, impacting at least one in 5,000 people worldwide, although studies suggest EDS may be more common in women, Dr. Clarke adds.
Symptoms of Ehlers-Danlos Syndrome
Symptoms of EDS can run the gamut from person to person, per Dr. Clarke, but often include:
What Causes Ehlers-Danlos Syndrome?
EDS is caused by genetic mutations that affect the body's ability to produce and process collagen, which is a fibrous protein that provides structure and support to your skin, muscles, bones, tendons, ligaments, cartilage, blood vessels, and organs, says Brett Shore, MD. "Some of the most commonly involved genes include COL5A1, COL5A2, COL1A1, as well as variants in the TNXB gene, but most of these genetic mutations are inherited in an autosomal dominant fashion, meaning it only takes one parent with the condition to pass it on to offspring, which will happen 50 percent of the time."
How Is Ehlers-Danlos Syndrome Diagnosed?
Ehlers-Danlos syndrome is typically diagnosed with a complete family and medical history (including history of joint pain, joint dislocations, wound healing problems, etc.) and a physical exam in which the doctor will assess joint hypermobility and skin abnormalities, Dr. Shore says. The Beighton Scoring System, which is a clinical system to measure joint mobility on a nine-point scale, is also typically used during diagnosis, he says.
The exact presentation of EDS can vary, but the 2017 EDS International Classification outlines criteria for each of the 13 types of the condition, which helps narrow down a specific diagnosis, Dr. Clarke says. For example, a classical Ehlers-Danlos syndrome diagnosis consists of increased skin extensibility and scarring, a generalized increase in joint mobility, and a positive family history of the condition.
Genetic blood testing can also identify known genetic variants in those suspected of having EDS, Dr. Shore explains. However, many patients have unknown genetic mutations, which is why a complete medical history and physical exam are critical to diagnosis, he says.
Additionally, an X-ray, CT scan, MRI scan, echocardiogram, and/or lung function test may be necessary to evaluate organ functioning, Dr. Clarke says. A skin sample is sometimes also taken to examine collagen structure under a microscope, he adds.
How Is Ehlers-Danlos Syndrome Treated?
There is no cure for EDS, but treatment can help manage symptoms and prevent further complications, Dr. Hollingsworth says.
Medications like NSAIDs (such as aspirin and ibuprofen) can be used for pain management, and antihypertensive medication (used to treat high blood pressure) may be recommended to protect fragile blood vessels, Dr. Shore says. Physical therapy and strength exercises can also help support hypermobile joints and improve joint stability, though if joint dislocation becomes severe or persistent, a brace may be required to prevent further dislocation, he says.
In some cases, joint replacement surgery may be necessary if someone experiences arthritis or frequent dislocations, Dr. Hollingsworth says. Cardiac and/or vascular surgery can also address valvular abnormalities and aneurysm if they present, he adds.
If you suspect you have EDS, talk to your doctor about evaluation and management, Dr. Shore says. "Although there is no cure for Ehlers-Danlos syndrome, prompt diagnosis and initiation of treatment are critical to delay or prevent joint damage and other complications of the disease."
Andi Breitowich is a Chicago-based freelance writer and graduate from Emory University and Northwestern University's Medill School of Journalism. Her work has appeared in PS, Women's Health, Cosmopolitan, and elsewhere.
What Is Ehlers-Danlos Syndrome? - News-Medical.net
Ehlers-Danlos Syndrome (EDS) is a term used for a group of rare connective tissue disorders characterized by abnormalities in collagen. The typical signs of EDS include hypermobile joints and skin that can stretch beyond the usual. This condition may often lead to life-threatening impediments in severe cases.
According to the International Classification for the Ehlers-Danlos Syndromes published in 2017, thirteen subtypes have been described:
Signs and symptoms vary depending on the type of EDS. While some of the symptoms such as hyperextensible skin and scars are common across the subtypes, a few are quite specific. For instance, patients with hEDS suffer from fragile joints that have extended ranges of movement beyond their normal course. Joint pain, clicking sounds, and dislocations are commonly observed upon joint movement in such patients. Other symptoms include dizziness upon slight exertion, constipation, fatigue, and chest pain.
Patients with a rare but very serious subtype, vEDS display a range of symptoms such as thin skin with visible blood vessels, especially in chest and lower extremities. Swelling and rupture of the small blood vessels may often lead to serious internal bleeding and organ complications. VEDS patients suffer from impaired wound healing. This may precipitate serious complications in pregnant patients.
What is EDS? (Ehlers-Danlos Syndrome)Play
EtiologyGenetic mutations (either inherited or spontaneous) are the underlying reason for this syndrome.
The defective genes are usually passed on from one or both parents to the child. Both males and females are at equal risk of developing EDS.
In the case of a dominant form of EDS, the offspring receives a single copy of the abnormal gene from either parent, resulting in phenotypic changes and visible manifestations of the disease. However, when the child receives a normal copy of the gene from one parent along with a defective gene copy from another parent, the syndrome remains largely dormant. The offspring do not have the disease symptoms, but act as a carrier for the same mutation which can pass down to their lineage.
In certain cases, EDS may also be a result of a spontaneous gene mutation. The individual with such de novo mutations may develop EDS despite the fact that the parents have a normal set of genes. Some major genes that encode collagen formation and are known to be affected in EDS include COL5A1, COL5A2, COL1A1, COL1A2, and COL1A3.
Due to the severity of some of these syndrome, when a family history of EDS exists it is advisable to consult a physician before planning a pregnancy, to better understand the risks and possible solutions.
Management of EDSAs of now, no curative treatment is available for EDS. However, a combination of various physiotherapy, diagnostic, and adaptive approaches may help substantially in managing the condition.
The key to effectively manage EDS is proactive therapy. As these patients are susceptible to bone fractures and dislocations, they must be advised to refrain from strenuous physical activities and sports. Light exercises on the other hand, are usually beneficial to improve strength and stamina. Patients are also trained to control their pace of activity to avoid excessive fatigue and strain. Vitamin D supplements are also given to help improve their bone density.
Physicians must schedule regular monitoring for such individuals using non-invasive techniques (such as MRI and CT scan) as well as routine physical examinations. This can help a lot in assessing internal bleeding and organ damage, if any.
Due to the poor wound healing capacity, superficial stitches must be retained for a longer period of time than usual to allow proper healing. Sutures must also be put in with great care to optimize scar formation and avoid ugly or prominent scars on the skin. Vitamin C is also prescribed to help reduce bruising in many cases.
Several other symptomatic treatment approaches may be employed depending on the type of EDS and the severity of the condition.
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