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The life expectancy of a patient with Ehlers-Danlos syndrome (EDS) depends on the type of EDS and the patient's symptoms. EDS is a slowly progressive disease. EDS symptoms vary by type and range from mildly loose joints to life-threatening complications. There are 13 defined types of EDS. Apart from these 13 types, there are several other types identified as EDS. However, these are rare and aren’t well-defined.
The vascular type is typically a more severe form of EDS and is often associated with a short lifespan. Patients with vascular EDS have an average life expectancy of 48 years. About 80% of patients might have a critical event by the age of 40 years. The lifespan of a patient with kyphoscoliosis EDS is reduced due to two reasons:
- Involvement of the blood vessels
- Restrictive lung disease
Patients with classical and hypermobility types of EDS may have a longer lifespan. Patients with these forms of EDS live healthy but somewhat restricted lives.
What is Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is an inherited group of conditions that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. The condition is caused by mutation of the gene, causing abnormalities in the structure, production, and/or processing of collagen (the protein present in the connective tissues).
What are the symptoms of EDS?
Joint hypermobility and extremely fragile skin are the shared features of most forms of Ehlers-Danlos syndrome (EDS). There might be features that may overlap in different types. Other symptoms of EDS vary with subtypes and are described below:
Hypermobile EDS: This type of EDS is characterized by
- Soft, smooth, and silky skin with easy bruising.
- Chronic pain of the muscles and/or bones.
Classical EDS: This type of EDS is characterized by
- Stretchy, smooth, and silky skin with easy bruising.
- A flat, depressed scar.
- Tumors over the elbow.
- Delayed motor development.
- Hypotonia (decreased muscle tone).
Vascular EDS: This type of EDS is characterized by
- A fragile intestine and uterus that are prone to rupture.
- A short stature.
- Thin hair.
- Large eyes.
- A thin nose.
- Lobeless ears.
- Pneumothorax (collapse of the lung).
Kyphoscoliosis EDS: This type of EDS is characterized by
- Hypotonia at birth.
- Delayed motor development.
- Progressive scoliosis (sideways curvature of the spine from birth).
- Osteopenia (a low bone density).
Arthrochalasia EDS: This type of EDS is characterized by
- Hip dislocation (present from birth).
- Kyphoscoliosis (a combination of outward and sideways curvature of the spine).
- Dermatosparaxis EDS: Some of the features include:
- Hernia
- Saggy, redundant skin, especially on the face.
Classical-like EDS (clEDS): Features include:
- Spontaneous ecchymoses (bruises or discolorations of the skin resulting from the blood underneath)
- Spondylodysplastic EDS: Some of the features include:
- Short stature
- Muscle hypotonia
- Bowing of limbs
Cardiac-valvular EDS: This type of EDS can lead to
- Severe heart valve abnormalities.
- Skin problems.
How is EDS treated?
The treatment options for Ehlers-Danlos syndrome (EDS) include:
QUESTION
What percentage of the human body is water? See Answerhttps://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos- syndromes#:~:text=The%20vascular%20type%20is%20typically,major%20event%20by%20age%2040
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Common Medical Abbreviations & Terms
Doctors, pharmacists, and other health-care professionals use abbreviations, acronyms, and other terminology for instructions and information in regard to a patient's health condition, prescription drugs they are to take, or medical procedures that have been ordered. There is no approved this list of common medical abbreviations, acronyms, and terminology used by doctors and other health- care professionals. You can use this list of medical abbreviations and acronyms written by our doctors the next time you can't understand what is on your prescription package, blood test results, or medical procedure orders. Examples include:
- ANED: Alive no evidence of disease. The patient arrived in the ER alive with no evidence of disease.
- ARF: Acute renal (kidney) failure
- cap: Capsule.
- CPAP: Continuous positive airway pressure. A treatment for sleep apnea.
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- DM: Diabetes mellitus. Type 1 and type 2 diabetes
- HA: Headache
- IBD: Inflammatory bowel disease. A name for two disorders of the gastrointestinal (BI) tract, Crohn's disease and ulcerative colitis
- JT: Joint
- N/V: Nausea or vomiting.
- p.o.: By mouth. From the Latin terminology per os.
- q.i.d.: Four times daily. As in taking a medicine four times daily.
- RA: Rheumatoid arthritis
- SOB: Shortness of breath.
- T: Temperature. Temperature is recorded as part of the physical examination. It is one of the "vital signs."
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