Do you know about Elasdanlos Syndrome (a disease in which blood vessels in the skin joints are weakened)?

 

Did you know that there is a disease called Erasden-Roth Syndrome that weakens the skin, blood vessels, and joints? It is designated as an incurable disease in Korea, so it can cause life-related complications in addition to symptoms such as dislocation or skin fragility, so treatment is necessary according to the symptoms. This time, I will explain what kind of disease Elasdanlos syndrome is, symptoms, causes, treatment, etc.

What is Elasdanlos Syndrome?

Elasdanlos Syndrome (EDS) is a hereditary disease in which collagen, the systemic connective tissue such as the skin, blood vessels, and joints, becomes fragile. Symptoms include abnormal stretching, bending, or cutting of the skin and joints, bleeding more easily, and weakening of blood vessels and skin. The content and severity of symptoms differ depending on the type of disease, and even with the same type of disease, there are individual differences in how symptoms appear.

Because of the causes and symptoms, it is mainly classified into 6 disease types, and when all disease types are combined, the incidence is 1/5,000 cases. Because of hereditary diseases, there is no fundamental treatment, and basically, symptomatic treatment is used. It is designated as an intractable disease as an intractable disease.

Types of Elasdanlos Syndrome

Elasdanlos Syndrome is classified into six disease types due to symptoms or causes:

• classic
• joint hypermobility
• vascular type
• posterior root
• multiple joint flaccid
• skin relaxation type

According to the International Classification and Nomenclature Law, 13 disease types, including the 6 above, were classified as 'EDS based on D4ST1 deletion (DDEDS)'. are being discovered.

The relationship between disease type and heredity

Please teach me about Elasdanlos Syndrome and heredity in children. In the six-class disease type, the classic type, hypermobility type, vascular type, and multiple joint flaccid type become autosomal overt inheritance (dominant inheritance) and are known to be inherited by the patient's children with a 1/2 probability.

EDS (DDEDS), which is based on the degenerative D4ST1 deletion, newly classified as a guess-only type, becomes an autosomal latent inheritance (recessive inheritance) and is passed on to the patient's offspring with a 1/4 chance.

Symptoms of Elasdanlos Syndrome

Elasdan Ross syndrome has so far been found in various forms. Therefore, it is characterized by the appearance of slightly different symptoms depending on the type of disease. Here, in particular, the symptoms of the four disease types with characteristic symptoms different from other disease types are explained.

classic symptoms

In the classic type, it is characterized by brittle skin. The skin may tear easily, after which a scar called atrophic scar may form. Also, a characteristic of the classic type is that the joint becomes abnormally soft or prone to dislocation. In addition, internal bleeding may occur easily, or cardiac disorders such as deviation or regurgitation of the heart valves, and dilation of the ascending aorta may also occur.

joint hypermobility symptoms

In hypermobility of the joint, dislocation of the joint or dislocation of the child occurs. In addition to chronic pain of unknown cause, such as chronic intractable pain, various symptoms such as functional bowel disease that repeats constipation and diarrhea, and autonomic abnormalities such as dizziness, palpitations, and dizziness are also characteristics of the hyperactive joint type.

Vascular Symptoms

The vascular type is characterized by arterial dissociation and arterial lesions such as aneurysm, arterial rupture, and carotid cavernous sinus. In addition, organ ruptures such as intestinal rupture or uterine rupture, and sometimes life-related complications such as pneumothorax may occur. Also, because blood vessels are weakened, internal bleeding is easy, and the skin is thin and subcutaneous veins are visible.

muscle contracture symptoms

In the muscular contracture type, facial features and limited movement of the joint called polyarticular contracture can be seen immediately after birth. As the connective tissue (collagen) gradually weakens, symptoms such as abnormal height and weakness of the skin, hyperextension and dislocation of the joint, giant subcutaneous hematoma, and deformity of the legs and spine occur as in the classic type.

Causes of Elasdanlos Syndrome

Elasdanlos syndrome is known to be caused by genetic mutations in the collagen structural genes of connective tissue and enzymes involved in maturation from procollagen. The six types of disease are caused by mutations in the following collagen genes.

• Classical type: V-type collagen gene mutation
• Vascular Type: Type III Collagen Gene Variation
• Guess-only type: genetic mutation of the collagen-modifying enzyme lysylhydroxylase
• Multiple joint flaccid type: type I collagen gene mutation
• Genuine mutation of procollagen IN-proteinase

No causative gene was found for joint hypermobility. The reality is that it is not yet known how each genetic mutation causes complications.

Examination subjects for Elasdanlos syndrome

If you have any symptoms of concern, first consult the medical department according to your symptoms. If you have skin symptoms, see a dermatologist, or if you have joint symptoms such as dislocation, see an orthopedic surgeon. Depending on the type of illness, it may be noticed during examination at a pediatrician or obstetrician-gynecologist or at birth. If Elasdanlos Syndrome is suspected, you will be examined in a specialized subject that supports genetic diagnosis, etc. for detailed examination.

How to test for Elasdanlos syndrome

In Elasdanlos syndrome, palpation and examination are first performed according to the symptoms. If a blood vessel-related disease is suspected, more detailed tests such as a CT scan or blood test are performed to confirm the condition. If Elasdanlos syndrome is suspected, tests for confirmatory diagnosis such as biochemical tests and genetic tests are performed.

Gender and age differences in Elasdanlos syndrome

Elasdanlos syndrome is a disease that can occur regardless of region or gender. It is designated as an incurable disease due to a genetic abnormality.

How to Treat Elasdanlos Syndrome

Because Elasdanlos syndrome is a genetic abnormality, there is no established cure for the underlying disease. That is why symptomatic therapy is central. For skin conditions, the lacerations are sutured or painkillers are used for joint pain. For joint symptoms, you may be able to refrain from exercise, use assistive devices, or go through rehabilitation. If there are vascular symptoms such as arterial dissociation and aneurysm, surgery such as artificial blood vessel replacement may be performed. In addition, regular check-ups in each department are important, and measures to prevent blood vessel rupture or constipation are implemented depending on the type of illness.

organize

Elasdanlos syndrome is a disease caused by a genetic abnormality that weakens the skin, blood vessels, and joints. Since it has been designated as an incurable disease, it can cause life-related complications in addition to symptoms such as dislocations and skin fragility, so treatment is necessary according to the symptoms. Because Elasdanlos Syndrome is symptomatic treatment, it is important to first consult a department according to the symptom if there are symptoms of concern. If symptoms recur or do not improve, see a specialist for further examination.