Ehlers-Danlos Syndrome – Symptoms and Causes
Overview
Ehlers-Danlos syndrome (EDS) refers to a collection of genetic disorders affecting connective tissues throughout the body. These tissues contain proteins and other elements that provide necessary elasticity and strength to bodily structures.
People with EDS typically have two main characteristics: unusually flexible joints and skin that stretches easily and tears readily.
The fragile skin associated with EDS can create complications during wound treatment, as stitches may not hold properly in the weakened tissue.
Among the various types, vascular Ehlers-Danlos syndrome represents a more dangerous form that can lead to ruptures in blood vessel walls, intestines, or the uterus.
For women with vascular EDS who are considering pregnancy, the condition poses significant risks. Medical professionals often recommend consulting with a genetic counselor before planning a family due to potential complications.
This genetic consultation helps individuals understand inheritance patterns and assess risks for future children.
Signs and Symptoms
People with the vascular type of this connective tissue disorder have several unique features that help doctors identify this serious form of the condition. These individuals often have:
Distinctive Facial Features
- Thin nose
- Thin upper lip
- Small earlobes
- Prominent eyes
Skin Characteristics
- Thin, almost translucent skin
- Bruises very easily
- Visible blood vessels under the skin (especially in people with fair skin)
This type is particularly dangerous because it can weaken major blood vessels in the body, including the aorta (the heart’s largest artery) and other important arteries. When these weakened vessels rupture, the situation can be life-threatening.
The vascular type also affects other organs. The walls of both the uterus and large intestines can become fragile. This weakness creates a risk of rupture in these organs as well, which requires immediate medical attention.
Causes
Ehlers-Danlos syndrome stems from various genetic factors, with many types being hereditary conditions passed from parents to children. The genetic transmission follows specific patterns.
For those with hypermobile Ehlers-Danlos syndrome (the most common type), each child has a 50% chance of inheriting the condition.
Genetic mutations affecting connective tissue are the primary cause. These mutations can impact how the body produces or processes collagen and related proteins, which are essential for proper tissue strength and elasticity.
Complications
Complications vary based on your symptoms. Very flexible joints may lead to dislocations and early arthritis. Those with delicate skin often develop noticeable scars.
People with vascular type face more serious risks. These include potentially deadly ruptures of major blood vessels. Internal organs like the intestines and uterus can also tear.
Pregnancy increases the danger of uterine rupture for those with this condition.
Prevention
Those with a personal or family history of Ehlers-Danlos syndrome who plan to have children should consider genetic counseling. A genetic counselor can provide valuable information about inheritance patterns specific to your type of Ehlers-Danlos syndrome.
This professional guidance helps families understand the likelihood of passing the condition to children. They also learn about available testing options and family planning considerations.
Genetic counseling offers clarity about potential risks. It also helps people make informed decisions about starting or expanding their families. Consulting with these specialists early in the family planning process is recommended for the most comprehensive support.
