Ehlers-Danlos syndrome: types, symptoms, causes and treatment

Maybe at one point we saw how someone could stretch their skin to unusual limits, or how some people are able to do twists with different parts of their body that most people miss out on because they have hyperlaxity.

In most of these cases, we see it as a curiosity, and the truth is that around 10% of the population has this feature without major issues.

However, there is a much more serious problem that sometimes shares certain characteristics with people with hyperlax, unless, where appropriate, it appears alongside other symptoms that adversely affect their quality of life and until and anything can be dangerous for their survival. It’s Ehlers-Danlos syndrome, A strange and unusual genetic disease that we will talk about throughout this article.

    What is Ehlers-Danlos syndrome?

    It is called Ehlers-Danlos syndrome, a strange and unusual syndrome of genetic origin which is characterized by the presence of alterations in the connective tissue and specifically due to deficits in collagen production. These deficits, widespread throughout the body, result in damage to the skin, joints, blood vessels or even organs. It is a disease mainly seen in humans, although some cases have also been seen in other animals.

    Although there is great heterogeneity, among the main and most notorious symptoms of this disorder we can find the presence of hyperlaxity of joints and ligaments, hyperelasticity of the skin and bruising (Injuries in which hemorrhages appear inside the skin, such as those which occur with a blow), as well as muscle weakness and fragility of the tissues: it is not uncommon for bruises to appear at the slightest blow, joint pain or ease of dislocation and dislocations to appear.

    In some cases, it can be linked to arthritis, breathing and vision problems. In severe cases, it can cause rupture of internal organs, heart problems or deformities, as well as chronic pain or mollusc tumors.

    Ehlers-Danlos syndrome is a very rare disease, which affects only one in 5,000 people and seems to occur in greater proportions in women and children. This problem often occurs concomitantly with other problems such as chronic fatigue, tendonitis, hearing loss, fibromyalgia or scoliosis. In some cases, it is mistaken for celiac disease or even child abuse. As the subjects grow, hyperlaxity tends to decrease, but pain and related complications remain.

    It is a syndrome the variety of which can vary, ranging from a mild problem to, and especially in certain subtypes, which can have fatal repercussions. This is particularly relevant in case of vascular or organ problems, In which there may be ruptures in the blood vessels or walls of the intestines or uterus (in which case pregnancy and childbirth can be particularly delicate).

    Although in most cases the life expectancy is normal and there is no decrease, the symptoms and possible complications can alter and decrease the quality of life.

      main types

      Ehlers-Danlos syndrome is not a homogeneous disorder, but presents a strong heterogeneity. In fact, more than one disorder we could speak of a set of themThere are several types.

      Although in the past the existence of up to thirteen variants was considered, later the types of syndrome were reclassified and they were reduced to a total of 6 (losing or integrating in others some like that of the fragile cornea, spondyloqual dysplasia, musculocontractual, periodontitis type or that generated by a tenascin-X deficiency), which are as follows.

      1. Classic type

      The so-called classic type is one of all the variants of the most common syndrome, and It is characterized by hypermobility of the joints and hyperelasticity and extensibility of the skin, With the fragility of these tissues. It is common for them to be able to fully bend their fingers, and dislocations, dislocations and sprains occur and benign neoplasms can occur.

      Small lesions usually cause large bruises, And events such as pregnancy can be dangerous. Mitral regurgitation can occur as a result of deformities of the heart valves, in addition to frequent hernias in various places of the digestive tract.

      2. Hypermobile type

      This is the second most common type, and in this case we see hyperelasticity and mobility in the joints (which are easily dislocated), especially in areas such as the arms and legs, as well as often pain and hypersensitivity. Unlike the previous type, fragility of the skin or tissue is not so common.

      3. Vascular type

      Ehlers-Danlos syndrome of the vascular type is probably the most serious and dangerous of all the subtypes, although fortunately less common than the previous ones.

      In this type, the skin is not elastic and there is no hyperlaxity in the joints (except perhaps in the fingers), but this tissue and others are thin and fragile (it is not uncommon to see veins through the skin). Mainly and as you can guess from the name highlights the fragility of arteries and other blood vessels as well as organs, Which causes a great facility for its lacerations and its rupture.

      It is the deadliest of all subtypes and the only one that shortens life expectancy, being the cause of death in general which ruptures the veins and arteries of the intestines or uterus (also in this case, the risk during pregnancy is high).

      4. Typhoescoliotic type

      A very rare subtype (in which there are barely diagnosed cases) that has characteristics similar to the classic, with the additional feature of the presence of congenital scoliosis which gets worse over time.

      It is common for increasing muscle weakness, osteopenia, and psychomotor retardation to occur. In some cases, they may end up losing the ability to walk.

      It can lead to symptoms typical of Marfan syndrome, of typical morphology (extremely long limbs) including the risk of aortic artery involvement. They can also have visual problems, including ruptured eyeballs, although this is not as common.

      5. Arthroclassical type

      Another unusual subtype is characterized by hyperlaxity of the joints, osteopenia and, as a rule, presence of congenital or frequent dislocations of both hips. Hypotonia also tends to appear.

      6. Dermatosparagic type

      Perhaps the less common and barely recognized casesThis subtype is characterized by fragility and laxity of the skin, with frequent hernias and loss of elasticity. The ease of suffering from bruises is very common.

      What are its causes?

      Ehlers-Danlos syndrome is, as we have said, a disorder, or rather a set of disorders, genetic origin. Thus, the collagen synthesis problems that generate most of the symptoms mentioned above are derived from the presence of mutations in different genes in the body.

      Some of the mutation genes have been associated with this type of syndrome these are COL5A1, COL5A2, ADAMTS2, COL1A1, COL1A2, PLOD2 or TNXB. However, in some cases, it is not known which genetic alterations may be causing the problem.

      Although there are de novo cases in people without a family history, the results suggest that in many cases we are dealing with an inherited disease. In the most common subtypes, heredity is autosomal dominant (especially in classic or hypermobile), while in less common heredity is autosomal recessive (which occurs in dermatosparaxis type or in vascular or kyphoscoliosis).

      Treatment of this syndrome

      Ehlers-Danlos syndrome is a disease of genetic origin without curative treatment, the existing treatments being those intended for correct or reduce the symptoms and alterations it generates.

      Each specific case will require specific and specialized treatment. For example, it can be done occupational therapy or physiotherapy to improve motor difficulties or psychomotor delays, Or use surgery to correct heart problems, drain bleeding, install prostheses or braces, or remove tumors.

      In addition to this, it is important to keep in mind that patients and their environment may present psychological problems such as anxiety, depression, self-esteem issues and difficulties in different areas of their daily life. In this sense, psychoeducation and the application of different psychological therapies can be useful, depending on the case.

      Bibliographical references:

      • Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., Wenstrup, RJ (1998). Ehlers-Danlos Syndromes: A Revised Nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77 (1): 31-7.
      • Information Center for Genetic and Rare Diseases (2017). Ehlers-Danlos syndrome. National Center for the Advancement of Translation Sciences. [Online]. Available at: https://rarediseases.info.nih.gov/espanol/12323/sindrome-de-ehlers-danlos#diseaseCausaSection
      • Krakow, D. (2017). Hereditary diseases of connective tissue. A: Firestein GS, Budd RC, Gabriel SE, McInnes IB, O’Dell JR, eds. Kelly and Firestein’s Manual of Rheumatology. 10th ed. Philadelphia Cream.
      • Port Martinez, M. (2017). Clinical characterization and management of Ehlers Danlos syndrome. Journal of Medical Sciences of Pineda de el Riu, 21 (4).
      • Steinman, B., Royce, PM and Superti-Furga, A. (2002). Ehlers Danlos syndrome. Connective tissue and its inherited disorders. pages 431-523. Wiley-Liss, dins.

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