Ehlers-Danlos Syndrome

Extremely Soft & Velvety Skin is a Sight of Sorrow

Medical community is not fully aware of the health issues that impact women and in most cases, misdiagnose them inappropriately. This is not an opinion but the result of a study. Similar to many medical conditions Ehlers-Danlos Syndrome (EDS) impacts women to a greater extent which even accounts for the delay in proper diagnosis and treatment.

Ehlers-Danlos Syndrome (EDS)

One of my friends was always accident-prone. She skid and fell on the road every other time as though she was let down by a banana peel, handled dishes clumsily letting them fall over many-a-time and was always reprimanded by parents, friends and colleagues for this unskilled behavior. She could not even pick a wooden chair and move it to another place. A few year back, when she tried to help me move a couch up a three-storied apartment, she could not get out of bed for an entire week! Off late, she had been complaining of constant bone-deep aching pain as though her hips had been pricked by broken glass all over. Even physical therapists could not understand the reason for such incessant and intense pain without any participation in sports activities or neck-breaking injuries. When this friend of mine chanced to meet a geneticist some time back, the physician diagnosed her with Type III of a rare connective tissue disorder known as Ehlers-Danlos syndrome (EDS).

EDS are a group of rare connective tissue disorders that can be inherited and varied in both, affecting the body. They are mostly characterized by joint hypermobility (joints that stretch beyond normalcy), skin hyperextensibility (skins that stretch beyond normalcy) and tissue fragility. Connective tissues are the ones that provide support to skin, ligaments, tendons, blood vessels, internal organs and bones. Rare diseases rarely have treatments options and people with these diseases bear its pain throughout life. For more details on rare diseases, please visit the website www.firsteatright.com.

EDS Types & Gene Influence

As of 2017, there are 13 types of EDS and each of these types are caused by faults in certain genes that weaken the connective tissue. Based on the type of EDS, the gene might have been acquired from one parent or both. Rarely, the gene is not acquired but occurs for the first time in the person. EDS affects different people in different ways. The diseases might be mild in some people, can disable some others and rarely, can be life-threatening to a handful few. If you have one of the common forms of EDS, there’s a 50% chance that you’ll pass on the gene to your offspring.

Hypermobile EDS is the main type while rarer ones include classical EDS, vascular EDS and kyphoscoliosis EDS.

Hypermobile EDS (hEDS)

This is often very similar to another condition called as joint hypermobility syndrome. People with hEDS may experience extreme tiredness, easily bruising skin, joint hypermobility, joint pain and clicking joints, bladder control problems, loose joints that dislocate easily and digestive problems. There is no specific test to confirm hEDS and it is confirmed based on a person’s medical history and physical examination.

Classical EDS

This affects the skin more often and is less common than hEDS. Joint hypermobility, stretchy skin, loose joints that dislocate easily, smooth, velvety skin that bruise easily, slow-healing wounds that leave a wide scar and fragile skin are commonly experienced by people with classical EDS.

Vascular EDS (vEDS)

This is a rare type but often considered as the most serious type of EDS as it affects the internal organs and blood vessels which can break them open and result in life-threatening bleeding. Individuals with vEDS may have skin that bruises easily, very thin skin with visible blood vessels, especially on the upper chest and legs, organ problems such as bowel or womb tearing, unusual facial features such as thin nose and lips, large eyes and small earlobes and delayed wound healing.

Kyphoscoliotic EDS (kEDS)

This condition is rare and is manifested by joint hypermobility, loose, unstable joints that dislocate easily, weak muscle tone from childhood (hypotonia) that can cause delay in sitting and walking and the person might also face walking difficulty if the symptoms get worse, fragile eyes that can be easily damaged and soft, velvety skin that can bruise easily.

Treatment

There is no medication and cure available for EDS. Treatment can help you cope with pain and improve quality of life.

Medications: Physician might prescribe pain killers to relieve pain and heal acute injuries. The doctor might also recommend that you maintain a low blood pressure. That’s because blood vessels are too fragile in some types of EDS and the stress on these vessels is reduced when BP is maintained at a lower level.

Physical therapy: Joints with fragile connective tissues are likelier to dislocate. Exercises to strengthen the muscles and stabilize joints are the primary treatment procedures although your physician might suggest specific braces to help prevent joint dislocations.

Surgery: This is recommended to repair joint damage due to repeated dislocations. Skin and connective tissues mostly don’t heal completely after the surgery.

Lifestyle: Interested in sports? Choose swimming, walking, tai chi, recreational biking, elliptical machine or a stationary bike that minimizes stress on your hips, knees and ankles. Stay away from weightlifting. Protect your jaw joint by avoiding chewing gum, hard rolls and ice that can break your jaws.