However, they do not have other connective tissue problems like those described above skin, gums, bowel, and blood vessel rupture, etc and therefore do not have signs of EDS or any other of the hypermobility-related disorders of connective tissue such as Marfan syndrome or Loeys -Dietz syndrome, etc. 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.
For many of these genes, it is not clear how mutations lead to hypermobility, elastic skin, and other features of these conditions. The inheritance pattern of the Ehlers-Danlos syndromes varies by type. The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder.
In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new de novo gene mutations and occur in people with no history of the disorder in their family. The classical-like, cardiac-valvular, dermatosparaxis, kyphoscoliotic, spondylodysplastic, and musculocontractural types of Ehlers-Danlos syndrome, as well as brittle cornea syndrome, are inherited in an autosomal recessive pattern.
In autosomal recessive inheritance, two copies of a gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
The myopathic type of Ehlers-Danlos syndrome can have either an autosomal dominant or autosomal recessive pattern of inheritance. Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Ehlers-Danlos syndrome. From Genetics Home Reference. Description Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues.
Frequency The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5, individuals worldwide. Causes Mutations in at least 20 genes have been found to cause the Ehlers-Danlos syndromes.
Recently some of the criteria used to diagnose the Ehlers-Danlos syndromes and some of the terminology describing them changed, in order to reflect scientific research from the past twenty years.
The term joint hypermobility syndrome JHS is no longer used. The most common type of EDS is thought to be the hypermobile type formerly known as the hypermobilty type or type 3 although the exact prevalence of this condition is not currently known.
The classical and vascular types are rare, with other types being rarer still. It is probable that all the types are underdiagnosed to some degree. Joint hypermobility with its possible musculoskeletal complications is expressed along a spectrum.
At one end is hypermobility which causes no symptoms, at the other is hypermobile Ehlers-Danlos syndrome, and in between are the hypermobility spectrum disorders.
Hypotonia and delayed motor development may occur. Vascular EDS - characterized by thin, translucent skin that is extremely fragile and bruises easily. Arteries and certain organs such as the intestines and uterus are also fragile and prone to rupture. People with this type typically have short stature ; thin scalp hair; and characteristic facial features including large eyes, a thin nose, and lobeless ears.
Joint hypermobility is present, but generally confined to the small joints fingers, toes. Kyphoscoliosis EDS - associated with severe hypotonia at birth, delayed motor development, progressive scoliosis present from birth , and scleral fragility. Affected people may also have easy bruising; fragile arteries that are prone to rupture; unusually small corneas ; and osteopenia low bone density. Other common features include a "marfanoid habitus" which is characterized by long, slender fingers arachnodactyly ; unusually long limbs; and a sunken chest pectus excavatum or protruding chest pectus carinatum.
Arthrochalasia EDS - characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising; hypotonia; kyphoscoliosis kyphosis and scoliosis ; and mild osteopenia. Dermatosparaxis EDS - associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias.
Brittle Cornea Syndrome BCS c haracterized by thin cornea, early onset progressive keratoglobus; and blue sclerae. Classical-like EDS clEDS characterized by skin hyperextensibility with velvety skin texture and absence of atrophic scarring, generalized joint hypermobility GJH with or without recurrent dislocations most often shoulder and ankle , and easily bruised skin or spontaneous ecchymoses discolorations of the skin resulting from bleeding underneath.
Spondylodysplastic EDS spEDS characterized by s hort stature progressive in childhood , muscle hypotonia ranging from severe congenital , to mild later-onset , and bowing of limbs. Periodontal EDS pEDS characterized by s evere and intractable periodontitis of early onset childhood or adolescence , lack of attached gingiva, pretibial plaques; and family history of a first-degree relative who meets clinical criteria. Cardiac-valvular EDS cvEDS characterized by severe progressive cardiac-valvular problems aortic valve, mitral valve , skin problems hyperextensibility, atrophic scars, thin skin, easy bruising and joint hypermobility generalized or restricted to small joints.
Other forms of the condition may exist but are extremely rare and are not well-characterized. Do you have updated information on this disease? We want to hear from you. Cause Cause. However, the underlying genetic cause is unknown in some families.
Collagen provides structure and strength to connective tissues throughout the body. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs , resulting in the signs and symptoms of EDS.
Inheritance Inheritance. In some cases, a person with these forms of EDS inherits the mutation from an affected parent.
Other cases may result from new de novo mutations in the gene; these cases occur in people with no family history of EDS. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. Diagnosis Diagnosis. A diagnosis of the Ehlers-Danlos syndromes EDS is typically based on the presence of characteristic signs and symptoms.
Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis: [1] [2] [3] Collagen typing, performed on a skin biopsy , may aid in the diagnosis of vascular type , arthrochalasia type , and dermatosparaxis type. People with EDS often have abnormalities of certain types of collagen. Genetic testing is available for many subtypes of EDS; however, it is not an option for most families with the hypermobility type.
Imaging studies such as CT scan , MRI , ultrasound , and angiography may be useful in identifying certain features of the condition. Urine tests to detect deficiencies in certain enzymes that are important for collagen formation may be helpful in diagnosing the kyphoscoliosis type. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Orphanet lists international laboratories offering diagnostic testing for this condition.
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