Ehlers-Danlos Diagnosis – A Story Worth Sharing

In the past century, humanity has experienced, suffered and has been immunized for several hundred diseases caused by all sorts of pathogens, such as bacteria and viruses. Ehler Danlos Diagnosis is among the most well-known symptom

Few diseases have had their names echoed and chanted in hospitals throughout the globe, mainly due to the devastating effects that caused to a population’s health because of the particular disease. Such diseases include SARS, AIDS, malaria and tuberculosis.

However, many chronic, life-limiting diseases often go unnoticed due to the lack of education and awareness shared amongst people in a growing society.

Such diseases are often genetic, rare and underdiagnosed by doctors, hence making their presence negligible. Furthermore, most school curriculums refrain from teaching or mentioning such conditions due to the lack of study and research material and fear of straying from the known syllabus.

Among this diverse list of diseases and conditions is one genetic condition called EDS, known as Ehlers-Danlos Syndrome. The syndrome receives its name from the scientists Edvard Ehlers and Henri-Alexandre Danlos, dermatologist and physician.

It is worth mentioning, Ehler Danlos Diagnosis, by its nature, is a large group of genetic disorders found in the connective tissues and associated structures within a patient’s body. More specifically, it is an autosomal condition, which means it only affects an individual's body cells or non-sex cells.

There are over 15 different types of Ehler Danlos Diagnosis that have recognized internationally. Some are dominant, which means that, regardless of any other allele present, the condition will be expressed, whereas some are recessive, which means that it will only be said in the absence of a dominant allele.

Naturally, the principal goal of this blog is to spread awareness about EDS and its different types and discuss the matter in relations to the lack of proper diagnosis shown in most hospitals and clinics.

Types of Ehler Danlos Diagnosis:

As previously stated, there are over 15 different types of EDS. Though each of them is presented to varying parts of the body, in various forms, they display the same related condition – more specifically, conditions revolving are the connective tissues in the human body.

- Vascular EDS

Vascular EDS significantly weakens the aorta, the largest artery in the body, including the other nearby, larger blood vessels. A rupture in any of these major arteries can be fatal and life-threatening.

- Classical-like EDS

Classical-like EDS is known for the amount of stretch and fragility it adds to the skin, causing immediate bruising. It is often followed by muscle weakness and protrusion of the stomach through the diaphragm in the thoracic cavity. Its symptoms stem from EDS called hypermobility, belonging to the list of autosomal recessive alleles of EDS.

- Kyphoscoliotic EDS

Kyphoscoliotic EDS shows hypertension in the skin and sagginess in the face. A tremendous amount of hypotonia seen at birth.

- Periodontal EDS

Periodontal Ehler Danlos Diagnosis characterized by immense periodontal disease in conjunction. It is seen at an early age, generally around the periods where puberty begins.

- Myopathic EDS

Myopathic EDS characterized by congenital hypotonia of the muscles and muscle atrophy. It usually improves as the age of the person steadily increases.

Along the five listed above, there are several more different forms of EDS included.

How To Diagnose?

1. Search for overly flexible joints: By searching for excessively flexible joints, the diagnosis can be considered, as increased flexibility of joints pertains towards the presence of EDS.

2. Keep a watch out for elastic skin: stretchy, fragile and easily wounded skin is another primary symptom for Ehler Danlos Diagnosis due to the weakening of the collagen protein. This fibrous protein affiliate with the structural integrity of the body.

3. Look for vascular complications: if you possess any vascular pain or difficulty, along with the above-stated symptoms, EDS might be a probable cause as to why you may be feeling such pain.

4. Observe signs of scoliosis: the sideways curvature of the spine is also another indication of the rare EDS condition. It causes the straightness of the spine to deteriorate and to adopt a more curved structure.

What Is the Treatment?

EDS can be treated in three possible methods.

1. Medication: patients suffering from EDS will require pain medication to curb the discomfort and pain caused by the joints. In addition, blood pressure control pills will also need, as EDS may cause an increase in blood pressure. This is generally due to the increased fragility of the blood vessels.

2. Physical therapy: constant, consistent and controlled exercise is a great way to prevent the stiffening of joints. In addition, it also prevents the chances of joint dislocation from taking place.

3. Surgery: Surgery may be recommended to some folks who possess a condition that may make their lives very difficult to live. Furthermore, you can also use it to fix any damaged blood vessels or torn skin.

Why the Lack of Awareness?

Due to its relative rarity, Ehler Danlos Diagnosis is an often-neglected condition, overlooked in several aspects, even by medical professionals. With the lack of awareness, many physicians have misdiagnosed patients who suffer from EDS.

Luckily, several celebrities have shared their journey with EDS, advising and guiding people with their wisdom over the matter whilst also spreading valuable awareness, leading people to a safer expectation of healthcare.