A few days ago, British actor Jameela Jamil opened up about a rare genetic condition called the Ehlers-Danlos Syndrome (EDS), about which she made a video on Instagram, wherein she showed her stretchy facial skin on camera and her rather bendy elbow joint. “Jesus Christ, that is not an app. That is not a filter. That is just my face. Look how elastic that is,” the ‘She-Hulk: Attorney at Law‘ actor said in the video, wherein she pulled her own cheeks. She added, “The reason it is so elastic is because I have something called EDS, which is Ehlers-Danlos Syndrome.”
The 36-year-old went on to say that she is ‘hypermobile’, which means there is joint hypermobility with a large range of movements in some or all of the joints. “It pertains to my joints, as you can see, nothing bends the right way, everything bends the wrong way,” she explained while extending her arm.
Jameela went on to say that it is a “really serious condition that impacts every single part of your body”. “It is very dangerous to not know that you have it, because of the way that it impacts bruising, bleeding, healing. If you want to have a baby, it is so important that your doctor knows you have EDS, because it makes pregnancy so much more complicated.”
She also said that EDS makes one clumsier and makes their joints swell sometimes. “It means that you dislocate, that your teeth are harder to work on… Look it up, see if you have the symptoms, if you are struggling with your joints, if you are struggling with accidents all the time. Please find out before it is too late,” the actor implored.
According to ehlers-danlos.com, EDS are a group of 13 “heritable connective tissue disorders” caused by genetic changes that affect connective tissue. Each type of EDS has its own set of features with distinct diagnostic criteria, it stated, adding that some features are seen across all types of EDS — joint hypermobility, skin hyperextensibility, and tissue fragility.
The UK’s National Health Service (NHS) explained that hypermobile EDS (hEDS) is the most common type; other types include classical EDS, vascular EDS and kyphoscoliotic EDS. According to it, people with hEDS — such as Jameela — may have:
– joint hypermobility
– loose, unstable joints that dislocate easily
– joint pain and clicking joints
– extreme tiredness (fatigue)
– skin that bruises easily
– digestive problems, such as heartburn and constipation
– dizziness and an increased heart rate after standing up
– problems with internal organs, such as mitral valve problems or organ prolapse
– problems with bladder control (urinary incontinence)
Dr Reshu Agrawal, consultant – internal medicine, Manipal Hospitals, Baner-Pune told indianexpress.com that connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in the body. “Basically, EDS is caused by faults in certain genes which makes connective tissues weaker. The symptoms vary from person-to-person and depend on the type of EDS. Some of the common symptoms include extremely-flexible joints leading to easy dislocation, early arthritis, and fragile skin that bruises easily,” she said.
The doctor also pointed out that some types of EDS have distinctive facial features like prominent eyes, thin nose, and small earlobes. It can also weaken the walls of the uterus or intestines, which may rupture. Abnormalities in heart valves may also be found, she said. “The diagnosis of this condition is made on the basis of symptoms/physical examination, skin biopsy, and genetic testing. Currently, there is no cure for this condition. Supportive treatment like physiotherapy and occupational therapy may be helpful,” Dr Agrawal told this outlet.
Concurring with her, Dr Sunilkumar Singh, consultant, rheumatology, Kokilaben Dhirubhai Ambani Hospital Mumbai said that treatment can help manage the symptoms and prevent complications. One needs regular checkups and monitoring to prevent complications. “Physiotherapy to strengthen the muscles and stabilise joints can minimise the risk of dislocation. It is important to prevent injuries as wound healing is delayed. Vitamin C supplementation can promote wound healing and help the skin fragility,” he said.
The doctor added that in the case of valvular heart disease, medications from a cardiologist can minimise the risk of cardiac complications, and surgical treatment may be needed for repeated dislocation of joints or for the repair of ruptured blood vessels.
One needs regular checkups and monitoring to prevent complications. Physiotherapy to strengthen the muscles and stabilise joints can minimise the risk of dislocation. (Photo: Getty/Thinkstock)
Dr Bibhas Kar, consultant genetics, Kokilaben Dhirubhai Ambani Hospital Mumbai also weighed in. He said that for diagnosis, the following things have to done done:
* Physical examination done by a doctor
* Imaging – XRAY and CT Scan
* Biopsy (skin sample will be taken)
* Genetic testing
“Once EDS is suspected, a genetic specialist should be consulted, who will take the medical and family history, assess the symptoms and may carry out a genetic blood test to confirm EDS. It is confirmed through gene-sequencing using the next-generation sequencing (NGS) platform. The treatment plan has to be customised based on the diagnosis — it can help with early prevention. Genetic counselling is important, as once EDS is detected, the patient can learn more about the causes, how it is inherited and chances of future transmission,” Dr Kar stated.
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The actor said she is 'hypermobile'. "It pertains to my joints, as you can see, nothing bends the right way, everything bends the wrong way," she explained while extending her arm. (Photo: Instagram/@jameelajamil) 
One needs regular checkups and monitoring to prevent complications. Physiotherapy to strengthen the muscles and stabilise joints can minimise the risk of dislocation. (Photo: Getty/Thinkstock)
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