Las Rare diseases They are still conditions very little diagnosed in Mexicoand the problem is complicated because there are few specialists To detect and treat conditions such as “Ehlers-Danlos” syndromes or “hypermobile spectrum disorders”, a specialist warned.
“Mexico needs more specialists who understand and are able to identify collagenopathies such as Ehlers-Danlos syndromes,” he said Thursday in a statement Gilda Garzageneticist with perinatal genetics.
Within the framework of rare disease monththat is commemorated every February, the expert said that the Ehlers-Danlos syndromes (Thirst or ed, in English) and Hypermobile spectrum disorders (HSD) could be the most common, with a prevalence of between 1 in two thousand 500 and 1 in 5,000 people.
Both syndromes They are a group of hereditary disorders that affect connective tissue, mainly collagen and other structural proteins, essential to provide support, resistance and elasticity to body tissues.
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Regarding the two syndromes, the expert stressed that: “They are characterized by joint hypermobility (movements in the broadest joints than usual), the hyperextensibility of the skin (skin that is easily stretched) and the fragility of the tissues ( greater predisposition to injuries and poor healing) ”.
Until now, 13 types of ehlers-danlos syndromes have been identifiedeach with specific criteria and manifestations, in addition to the symptoms vary greatly.
Garza warned that the prevalence of these Rare diseases It can be much greater than the one registered so far, especially in countries such as Mexicothat You have very few specialists with knowledge and experience in these disorders.
“The most common subtype, Ehlers-Danlos Hypermobile (HEDS) syndrome has a prevalence combined with hypermovil spectrum disorders (HSD) 1 in 600 to 1 in 900 peopleaccording to population studies, “he said.
For its part, Ana María Serranoorthopedist specialized in ehlers-danlos, regretted that, Commonly, patients living with this type of syndromes are diagnosed as fibromyalgia, chronic fatigue syndrome or even depression, since there is a general ignorance of how these diseases are identified.
“As a result, we have patients with treatments that do not show any improvement over time“He insisted.
He also said that The EDS is hereditary and is caused by alterations in the production or structure of collagen and other connective tissue proteins. The diagnosis, abounded, is based on the clinical evaluation of symptoms, family history and genetic tests to confirm the type of syndrome.
Finally, Denise vasequezinterventionist algologist, said that There is currently no specialized center, or reference doctors who know how to handle EDS’s symptoms after diagnosis, nor that provide nutritional, mental and logistical support that patients and their families need to improve their quality of life.
Given this, A group of specialists created the Mexeds Networkwith which they seek to reduce the delay in diagnosis and provide multidisciplinary treatments that improve the quality of life of patients with this type of disease.
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