Also, if your child has EDS, follow these steps to prevent injuries and protect their joints. In addition, put adequate padding on your child before they ride a bike or are learning to walk. They will be able to diagnose you with a few tests or by ruling out other similar conditions. If you are diagnosed with the condition, your doctor will work with you to develop a treatment plan. In additional, there are several steps you can take to prevent injury.
People with hypermobile joints are able to extend them painlessly beyond the normal range of motion. This occurs when the tissues holding the joint…. A skin lesion biopsy is a simple medical procedure in which a sample of your skin is removed and tested in a laboratory. An echocardiogram test uses sound waves to produce live images of your heart. It's used to monitor your heart function. Learn more about what to….
Learn what to expect before and after syringoma removal. Since a dislocation means your bone is no longer where it should be, you should treat it as an emergency and seek medical attention as soon as…. Learn about the symptoms and treatment options.
Here are 16 of the best sunscreens on the market in spray, lotion, and solid forms, and for different needs. They're tried and true. Health Conditions Discover Plan Connect.
Rheumatoid Arthritis. Medically reviewed by Daniel Murrell, M. Recently, 13 major types of Ehlers-Danlos syndrome have been subtyped. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.
People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn't strong enough to hold them. A more severe form of the disorder, called vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture.
Because vascular Ehlers-Danlos syndrome can have serious potential complications in pregnancy, you may want to talk to a genetic counselor before starting a family. There are many different types of Ehlers-Danlos syndrome, but the most common signs and symptoms include:. Symptom severity can vary from person to person and depends on the specific type of Ehlers-Danlos syndrome that you have. The most common type is called hypermobile Ehlers-Danlos syndrome.
People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin. Vascular Ehlers-Danlos syndrome can weaken your heart's largest artery aorta , as well as the arteries to other regions of your body. A rupture of any of these larger blood vessels can be fatal.
The vascular type can also weaken the walls of the uterus or large intestines — which also may rupture. Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child.
Complications depend on the types of signs and symptoms you have. For example, overly flexible joints can result in joint dislocations and early-onset arthritis. In this situation where there is no other explanation for hypermobility, instability, and joint and muscle injury, the term hypermobility spectrum disorder HSD is used. The prevalence of HSD may be in the order of 1 in to 1 in based on a large population st udy of medical records.
HSD may be more common than that as it may be missed or misdiagnosed as something else. If you think you might have one of the Ehlers-Danlos syndromes or hypermobility spectrum disorders, and particularly if someone in your immediate family has been diagnosed, ask your doctor if a diagnosis fits your symptoms.
If they choose to, any doctor who can diagnose a disease is able to diagnose EDS and HSD, but it is mo re likely that you wi ll be given a referral to a specialist in a discipline such as Rheumatology or Clinical G eneticist: someone adept at distinguishing between th e se diseases, a nd able to do the testing necessary to differentiate EDS and HSD from the more than other heritable connective tissue disorders.
Knowing the type of EDS or HSD gives you and your medical team some idea of where problems might come from and why they are happening. And as more people are diagnosed, EDS and HSD gain the attention needed to increas e care provision, education, research into these conditions leading to better health outcomes.
Your path to an EDS or HSD diagnosis starts with the doctor taking a full history of your concerns and then a physical examination that should look at your joints, skin, and any other parts of the body that might be affected. Your family medical history may also hold valuable information. Diagnosis of an EDS subtype comes by finding the one that most matches your symptoms and the diagnostic criteria.
Y our signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders including HSD, as well as a lot of variability between them. So , a definitive diagnosis for all the EDS subtypes—except for hypermobile EDS hEDS —also calls for confirmation by gene testing to identify the responsible variant for the gene affected in each subtype.
While there is no cure for the Ehlers-Danlos syndromes, there is treatment for symptoms, and there are preventative measures that are helpful for most. The prognosis depends on the type of Ehlers-Danlos syndrome and the individual. Severe restriction of breathing due to marked scoliosis for example may increase the risk of lung disease and reduce l ife expectancy. In some cases, gastrointestinal failure may lead to other organ failure and death. However, for most people the life expectancy is normal.
For some people, their concerns worsen over time, for example, joint pain and instability leading to reduced function and quality of life. This might occur because they have not received the right advice, or treatments have not been effective, or treatments have only been able to slow down a natural tendency in that person for their condi tion to worsen.
0コメント