Un terzo dei pazienti manifesta dilatazione della radice aortica con aumentato rischio di aneurisma aortico , seppur inferiore alla tipologia di EDS vascolare. Talvolta lussazioni frequenti, dolore cronico ad arti e giunture. Sono spesso presenti disturbi cardiaci quale prolasso della valvola mitralica. In alcuni casi il corpo assume caratteristiche simili per forma ai pazienti affetti da sindrome di Marfan. Tipo artroclasico[ modifica modifica wikitesto ] Imputabile alla mancanza di una catena pro a I o pro a II del collagene tipo uno, dovuta al passaggio di un exone 6 nel gene COL1A1 in posizione 17q Tipo dermatosparassico[ modifica modifica wikitesto ] Forma rara.
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Collagen provides structure and strength to connective tissue. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder. Most forms of EDS are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause a disorder. A few are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected by a disorder.
It can also be an individual de novo or "sporadic" variation. Sporadic variations occur without any inheritance. The Beighton criteria are widely used to assess the degree of joint hypermobility. DNA and biochemical studies can help identify affected individuals.
Diagnostic tests include collagen gene-variant testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity.
However, these tests are not able to confirm all cases, especially in instances of an unmapped variation, so clinical evaluation remains important. If multiple individuals in a family are affected, performing prenatal diagnosis may be possible using a DNA information technique known as a linkage study. Group A disorders are those which affect primary collagen structure and processing. Group B disorders affect collagen folding and crosslinking. Group C are disorders of structure and function of myomatrix.
Group D disorders are those that affect glycosaminoglycan biosynthesis. Group E disorders are characterized by defects in the complement pathway. It may lead to frequent joint subluxations partial dislocations and dislocations. It has no available genetic test. Since there is no known genetic test, providers have to diagnose hEDS based on what they already know about the condition and the physical attributes that the patient shows.
Other than the general signs, attributes can include faulty connective tissues throughout the body, musculoskeletal issues, and family history. Along with these general signs and side effects, patients can have trouble healing. New mothers with hEDS should pay extra attention to taking care of their new baby.
Mothers may have trouble taking care of the baby because of the risk of dropping the baby due to weak connective tissue in arms and legs, falling, postpartum depression more than the general population , and healing from the birthing process. Molluscoid pseudotumors calcified hematomas that occur over pressure points and spheroids cysts that contain fat occurring over forearms and shins also are seen often.
A side complication of the hyperelasticity presented in many cases of EDS makes it more difficult for wounds to close on their own . Sometimes, motor development is delayed and hypotonia occurs. It involves the skin more than hypermobile EDS. Because of this variance EDS has often been an under diagnosed disorder. As well as through neurological assessments. However, hyperelasticity is still a good indicator as something that may point towards EDS along with other symptoms.
A good way to begin the diagnosis process is looking at family history, EDS is an autosomal dominant condition and so is often inherited from family members. Anti inflammatory drugs as well as lifestyle changes can help with joint pain. Lifestyle choices should also be made with children that have EDS to try and prevent wounds to the skin. Wearing protective garments can help with this. In the event of a wound often deep stitches are used and left in place for a longer period of time than normal.
It is also characterized by fragile blood vessels and organs that can easily rupture. Affected people are frequently short, and have thin scalp hair. It also has characteristic facial features including large eyes, an undersized chin, sunken cheeks, a thin nose and lips, and ears without lobes. 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.
Other common features include fragile, elastic skin with easy bruising, hypotonia, kyphoscoliosis kyphosis and scoliosis , and mild osteopenia. It is very rare, with about 30 cases reported. It is more severe than the hypermobility type. It is extremely rare, with around 11 cases reported. Type 1 occurs due to variations in the ZNF gene. Type 2 is due to variations in the PRDM5 gene.
People with variations in this gene can have kyphoscoliosis, tapered fingers, osteoporosis, aortic aneurysma, and problems with the lungs. Other cases can be caused by the SLC39A13 gene. Those with variations in this gene have protuberant eyes, wrinkled palms of the hands, tapering fingers, and distal joint hypermobility.
Some other cases can be caused by variations in the DSE gene. This disorder can be inherited through either an autosomal dominant or an autosomal recessive pattern. At this time, the classification system underwent an overhaul and was reduced to six major types using descriptive titles.
Genetic specialists recognize that other types of this condition exist, but have only been documented in single families. Except for hypermobility type 3 , the most common type of all ten types, some of the specific variations involved have been identified and they can be precisely identified by genetic testing ; this is valuable due to a great deal of variation in individual cases. However, negative genetic test results do not rule out the diagnosis, since not all of the variations have been discovered; therefore, the clinical presentation is very important.
Inheritance patterns in this group include X-linked recessive, autosomal dominant, and autosomal recessive. Examples of types of related syndromes other than those above reported in the medical literature include:  — type 8 — unspecified gene, locus 12p13 — type 10 — unspecified gene, locus 2q
Síndrome de Ehlers-Danlos