Connective tissues are a group of tissues in the body that provide structural support, connect, and bind other tissues and organs together. They are made up of different types of cells, fibers (such as collagen and elastin), and a substance called extracellular matrix, which helps give the tissue its form and strength.
Examples of connective tissues include bones, cartilage, tendons, ligaments, blood, and adipose (fat) tissue. These tissues play a vital role in maintaining the body’s shape and stability, as well as protecting and supporting internal organs.
Connective tissues are important because they serve as the framework that holds the body together and ensures that organs, muscles, and joints can function properly. They help in movement by connecting muscles to bones (via tendons) and stabilizing joints (via ligaments). In addition, connective tissues like blood transport nutrients and oxygen, while fat tissues provide energy storage and insulation.Â
Essentially, without connective tissues, the body would lack the structure and support necessary for movement, protection, and its overall function. Mutations in specific genes coding for the connective tissue can lead to different subtypes of an inherited condition called Ehlers-Danlos syndrome (EDS).
EDS is a group of inherited disorders that affect the connective tissues. The most recognizable feature of EDS is the hypermobility of joints, which can lead to frequent dislocations or injuries. Other common symptoms include skin that is unusually stretchy, soft, or fragile, as well as poor wound healing and easy bruising. The severity of the symptoms can vary widely, even among individuals with the same type of EDS.
EDS is most often inherited in an autosomal dominant pattern, though many cases arise from spontaneous (de novo) mutations. This means that if a parent has the genetic mutation, there is a 50% chance that they will pass it on to each of their children, regardless of the child’s gender, because the gene is located on one of the autosomes (non-sex chromosomes).
In autosomal dominant conditions, the mutated gene usually “dominates” over the normal gene, leading to the expression of the disorder even when only one of the two copies is mutated.
There are several subtypes of EDS, with the most common being hypermobile EDS (hEDS), classical EDS (cEDS), and vascular EDS (vEDS). Each subtype has its own specific symptoms and genetic cause, and the management of the condition varies depending on the subtype.
There are a total of 13 recognized subtypes of EDS, with five of the most clinically significant being classical, classical-like, cardiac-valvular, vascular, and hypermobile EDS.
Classical EDS is typically associated with mutations in the COL5A1 or COL1A1 genes, causing skin hyperextensibility, joint hypermobility, and atrophic scarring. Classical-like EDS, involving the TNXB gene, shares similar symptoms but lacks atrophic scarring. Cardiac-valvular EDS, linked to mutations in COL1A2, presents with progressive heart valve issues, along with skin and joint problems.
Vascular EDS, caused by mutations in the COL3A1 gene, is particularly severe, leading to life-threatening arterial or uterine ruptures at a young age. Hypermobile EDS, which remains without a known genetic cause, is diagnosed based on clinical criteria that include significant joint hypermobility. This classification system aims to provide clear diagnostic criteria and genetic confirmation to improve understanding and management of the various EDS subtypes.
The genetic cause of hypermobile EDS (hEDS), the most common subtype, remains unknown. hEDS is marked by generalized joint hypermobility, musculoskeletal issues, mild skin involvement, and associated comorbidities.
A 2020 review paper highlighted alterations in the extracellular matrix (ECM) that likely play a significant role in compromising the mechanical stability of affected tissues. However, ECM’s relevance to hypermobile EDS (hEDS) remains unclear. The paper also stresses the need for awareness and involvement in societies for connective tissue diseases since EDS is often overlooked due to its rarity, with no two cases being identical.
Ehlers-Danlos syndrome is not classified as an autoimmune disease. While autoimmune diseases occur when the immune system mistakenly attacks the body’s own tissues, EDS is a structural disorder stemming from genetic mutations.
While people with EDS may experience inflammation and other immune system-related issues, these are secondary effects of tissue damage and do not indicate an autoimmune process. The distinction is important because autoimmune diseases are treated with immunosuppressive therapies, whereas EDS management focuses on symptom relief and stabilization of joints and tissues.
The severity and progression of Ehlers-Danlos syndrome can vary widely depending on the individual and the type of EDS they have. In general, EDS symptoms can worsen with age, particularly joint instability and chronic pain.
As the body’s connective tissues experience wear and tear over time, people with EDS may find that their joints become more prone to dislocations, and they may develop chronic pain in the bones and muscles.Â
Additionally, skin can become more fragile and prone to injury. In certain types, like vascular EDS, the risk of life-threatening complications, such as blood vessel rupture, increases with age.
However, not everyone with EDS experiences significant symptom progression, and some may find ways to manage their symptoms effectively with physical therapy, lifestyle adjustments, and medical support.
Currently, there is no cure for Ehlers-Danlos syndrome. Treatment focuses on managing symptoms and preventing complications. This can include physical therapy to strengthen muscles and improve joint stability and pain management strategies.
In some cases, surgical interventions may be necessary to address joint problems or tissue injuries. People with EDS are often encouraged to avoid activities that may exacerbate joint instability, such as contact sports or heavy lifting.Â
For specific subtypes like vascular EDS, close monitoring by healthcare professionals is important to manage the risk of vascular or organ rupture. Research into gene therapy and other potential treatments is ongoing, but at this time, the condition is managed rather than cured, with the goal to improve quality of life and prevent complications.
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissues, which provide structural support to the skin, joints, blood vessels, and organs. These tissues, made up of collagen and extracellular matrix, are crucial for body stability, movement, and protection.
In EDS, mutations in genes that code for connective tissue proteins lead to symptoms such as joint hypermobility, fragile skin, and poor wound healing. EDS is most often inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene can cause the disorder.
There are 13 recognized subtypes, with classical, hypermobile, and vascular EDS being the most common, each with distinct genetic causes and symptoms.
EDS is not an autoimmune disease but a genetic disorder. The condition can worsen with age, particularly in terms of joint instability, chronic pain, and skin fragility. Some forms, like vascular EDS, carry a high risk of life-threatening complications as people age.
Currently, there is no cure for EDS, but treatments focus on managing symptoms, stabilizing joints, and preventing complications. Physical therapy, pain management, and monitoring for serious issues like vascular ruptures are key components of care.
Research into potential treatments, including gene therapy, is ongoing, but the focus remains on improving the quality of life.
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