top of page
Search

It's Scientific Sunday and Genetics 101 with Ryan Rodarmer, Director of Genetic Education


Today is Scientific Sunday at Aortic Hope and we are excited to continue our Genetics 101 Series with Ryan Rodarmer.


Over the next couple of weeks, Ryan will discuss a variety of topics related to genetics. Use these discussions as a way to have a conversation with your physician.



Introduction :

In our last article, we delved into Loeys-Dietz syndrome (LDS), a connective tissue disorder that is likely more common that previously thought and which has significant risk for the development of aneurysms/dissection not only in the aorta, but other arteries as well. As we continue to journey through the world of genetic connective tissue syndromes, it's time to turn our attention to Ehlers-Danlos Syndrome (EDS). This group of related connective tissue disorders brings its own unique challenges and nuances. Just as with LDS and Marfan syndrome, EDS awareness is critical, particularly for survivors, families, and caregivers dealing with or suspecting aortic dissections. As always, don't hesitate to email me at ryan@myaorticjourney.com if you have any questions. And remember our guiding mantra: #thinkaortathinkfamily. Let's dive in!


Overview of EDS Subtypes:

EDS is not just one condition. It's a collection of disorders, each with its own specific traits and symptoms (and causes!) - Understanding these subtypes can help us better manage and navigate the challenges they present. We will focus on the vascular type of this condition (VEDS) but will start by briefly discussing a couple of others.


Classic Type of EDS:

The Classic Type of EDS, as the name suggests, is often what people think of when they hear about EDS. It's marked by:


  • Hyperextensible skin, meaning skin that can stretch more than usual, and significant skin fragility

  • Widespread joint hypermobility

  • Atrophic scarring, meaning thin, depressed scars and abnormal wound healing


The genetics of Classic EDS are fascinating. It's usually inherited in an autosomal dominant manner, meaning you only need one copy of the altered gene from one parent to be affected. Genetic testing plays a crucial role in diagnosing Classic EDS, identifying specific mutations in the COL5A1 or COL5A2 genes.


As for managing Classic EDS, it often involves a multidisciplinary approach. This can include physical therapy, pain management, and surgery for severe joint instability, although surgery is a difficult decision and should be performed by a surgeon familiar with EDS due to the difficulties in healing.


Classic type EDS is not thought to be a major contributor to aortic disease.

Hypermobility Type of EDS:

Hypermobility EDS is another prevalent subtype. Its main features are:


  • Generalized joint hypermobility

  • Instability and frequent joint dislocations

  • Mildly hyperextensible skin

  • Delayed wound healing


It's also associated with conditions like Postural Orthostatic Tachycardia Syndrome (POTS), irritable bowel syndrome (IBS), mast cell activation disorder, autoimmune conditions, and migraines. However, it's essential to note that there is likely not an increased risk for aortic dissection in Hypermobility EDS, although some individuals may have mitral valve prolapse or mildly enlarged but typically stable aortic dilatation.


The genetics of Hypermobility EDS is still not fully understood, making it a hot topic in the research world. Consequently, management options are tailored to the individual's specific symptoms, and may involve a team of providers, from physical therapists to neurologists.


Vascular Type of EDS (VEDS): A Closer Look:

Vascular Ehlers-Danlos syndrome (VEDS), the most serious form of EDS, deserves special attention due to its associated risk for arterial dissection and organ rupture. It is especially relevant to our community, and we encourage everyone to understand its nuances.


Physical and Clinical Manifestations:

Individuals with VEDS typically have thin, translucent skin, which can often give the appearance of a delicate, almost fragile constitution. This transparency of the skin often makes the underlying veins particularly visible, especially across the chest and abdomen.


Bruising is a common occurrence in people with VEDS, often occurring spontaneously or with minimal trauma. However, the most concerning aspect of VEDS is the significant risk of arterial, intestinal, or uterine rupture. These serious and life-threatening complications can happen without warning and are often the first sign of the disease in some undiagnosed individuals. Another common first symptom is spontaneous pneumothorax, which if you remember, was a common symptom in Marfan syndrome also. To review, spontaneous pneumothorax is when air escapes the lung and gets caught between the lung and chest wall. It can be very painful.


Genetics: The Role of the COL3A1 Gene:

When it comes to the genetics of VEDS, the spotlight falls on the COL3A1 gene. This gene is responsible for providing instructions to make a component of type III collagen. Collagen is a key protein that provides structure and strength to the connective tissues throughout the body.


In VEDS, mutations in the COL3A1 gene disrupt the production of type III collagen, resulting in the formation of a frail and faulty variant. This abnormal collagen is unable to provide the necessary structural support to the blood vessels and organs, leading to the increased risk of ruptures characteristic of VEDS.


The Importance of Genetic Testing:

Genetic testing plays a critical role in diagnosing VEDS. It allows for the identification of mutations in the COL3A1 gene, confirming the diagnosis in individuals with a family history or suspected symptoms of the condition. Early diagnosis through genetic testing can be life-saving, allowing affected individuals to take necessary precautions to prevent severe complications. That said, even in those that know that they have the condition, risks of complications are high and life expectancy is significantly shortened.


Comprehensive Management Strategies:

Living with VEDS involves comprehensive management strategies, including:


Preventive Measures: Individuals with VEDS are advised to avoid activities that could result in injury. Regular monitoring for signs of arterial rupture is crucial, and maintaining good dental hygiene can prevent gum damage.

Medical Treatments: Blood pressure control can reduce stress on the arteries, potentially lowering the risk for arterial ruptures. Surgery might be needed in cases of ruptures, although it comes with its risks due to the fragility of the tissues.

Surgical Interventions: Surgical interventions are considered high-risk in individuals with VEDS due to the fragility of the tissues. However, these interventions may be necessary in emergencies, such as an arterial or organ rupture.

Lifestyle Modifications: Engaging in regular, low-impact exercises can help maintain strength and stability without putting undue stress on the body. Activities such as swimming or walking are often recommended.

Emotional and Psychological Support: Dealing with VEDS can take an emotional toll on both individuals and their families. Counseling and psychological support can be beneficial in coping with the psychological impact of living with VEDS. Support groups can also provide a safe space for sharing experiences and advice.

In understanding and managing VEDS, we can arm ourselves with knowledge, equip ourselves with strategies, and foster a supportive community for all affected individuals and their families.


Brief Overview of Other Subtypes of EDS:

There are several other types of EDS, each with their unique characteristics:

  • Dermatosparaxis EDS: Characterized by extremely fragile skin that bruises easily.

  • Kyphoscoliotic EDS: Involves severe muscle weakness and curvature of the spine.

  • Arthrochalasia EDS: Characterized by severe joint hypermobility and recurrent dislocations.

  • Myopathic EDS: Marked by muscle weakness, especially in the shoulders and hips.

  • Periodontal EDS: Involves severe gum disease and other dental problems.

  • Spondylodysplastic EDS: Involves short stature and skeletal abnormalities.

  • Musculocontractural EDS: Characterized by congenital contractures of the fingers and toes, and distinctive craniofacial features.

Conclusion :

In conclusion, understanding Ehlers-Danlos syndrome and its various subtypes is vital for proper diagnosis and management of aortic diseases. By raising awareness and staying informed, we can empower ourselves and our loved ones to make the best decisions for our health. As we continue to explore various genetic conditions related to aortic disease, don't forget to keep an eye out for our next article on non-syndromic hereditary thoracic aortic disease.


If you have any questions or concerns, please feel free to reach out to me at ryan@myaorticjourney.com. Let's continue learning and supporting one another on this journey with the help of Aortic Hope. Remember, #thinkaortathinkfamily!


39 views0 comments

Recent Posts

See All

コメント


bottom of page