An inherited condition that affects the connective tissue (connective tissue is a combination of protein, collagen or other fibres, and including cartilaginous, fatty, and elastic tissues) that help to support, bind, or separate other tissues or organs that provide strength and elasticity to the underlying structures in your body making the tissue more looser and less rigid.
The three most common subtypes are:
Classic (common)
Hypermobility (common)
Vascular (rare) and is life threatening, beware if have this condition in pregnancy due to risk of organ and blood vessel rupture.
Hypermobility type
Classic type
Vascular type
Joint laxity of large and small joints (dislocation and subluxation of shoulder, patella, jaw, hip and fingers is common and frequent)
Chronic joint pain develops
Soft, smooth skin, moderate skin elasticity, no scarring, easy bruising
Blue sclera
Fatigue and sleep disturbances
Joint laxity
Velvety, hyper-elastic, fragile skin that splits easily, heals slowly and leads to atrophic scars; easy bruising
Spontaneous rupture of medium or large arteries at any age from mid-teens onwards
Skin shows only mild hyperextensibility but is fragile. It is also thin, appearing translucent (showing underlying veins and capillaries) especially on the chest and abdomen
Easy bruising
Scars are numerous
Perforation of hollow organs such as bowel or uterus
Autonomic dysfunction, including postural orthostatic tachycardia syndrome (POTS)
Irregular menstrual cycle (and worsening symptoms around menstruation)
Urinary dysfunction and incontinence
Other skin manifestations (eg, keratosis pilaris [tiny red “goose bump” type rash seen on the upper arms or thighs more commonly in EDS than in the general population], piezogenic papules [fat herniations through defects in the dermis], petechiae [pinpoint red/purple haemorrhages])
Other features can include:
Other skin features (piezogenic papules on sides of feet and molluscoid pseudotumors [cystlike nodules on bony prominences])
Brittle, soft weak bones, dental problems and/or prone to fractures or curved/bone legs and/or curved spine?
Stretchy skin (weakened connective tissue allows your skin to stretch much more Able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go)?
Skin might also feel exceptionally soft and velvety?
Skin often doesn’t heal well especially forehead, knees, shins and elbows?
Bruise easily?
Blood vessel appears through the skin especially upper chest and legs?
Facial features of a thin nose, thin upper lip, small earlobes and prominent eyes?
Dysautonomia – A condition that affects balance and dizziness when changing position and/or temperature and breathing and/or heart rate control.
Dysautonomia
People with EDS-HT can experience dysautonomia and autonomic dysfunction.
These affect involuntary functions relating to heart rate, breathing, digestion, balance and temperature regulation, and cause symptoms that are difficult to recognise and diagnose because of vague or lacking outward signs.
Misdiagnoses of anxiety disorders can add to the stresses that sufferers face.
The autonomic nervous system is unable to adapt to changes in body position, for example from lying down to sitting or standing.
POTS is diagnosed by either an increase in pulse of more than 30 beats/min, or greater than 120 beats/min, 12 minutes after standing from being supine, without any further exertion other than that required to change position.
When an individual with normal autonomic function and no joint hypermobility syndrome stands from lying or sitting there is a brief pooling of blood in the lower parts of the body, which, in turn, reduces blood pressure and cerebral blood flow.
This results in sympathetic nervous system activation to compensate, and causes an increase in heart rate, force of contraction and vasoconstriction (blood vessels become samller) of blood vessels. In an EDS-HT individual with POTS, standing causes the pooling of blood in the lower body, heart rate is increased, but the blood vessels do not adjust in the same way.
As a consequence the blood pressure can remain low, the heart rate remains fast and dizziness, confusion and fainting result.
Excess adrenaline can also result as the body attempts to compensate, producing additional symptoms (i.e. tremor, feelings of fear, flushing).
These symptoms of dysautonomia can be as disabling as the joint laxity.
The Pharmaceutical Journal, PJ, 24/31 May 2014, Vol 292, No 7811/2;292(7811/2):DOI:10.1211/
PJ.2014.11138392
The EDS individual can usually return the dislocated joint to its natural position themselves, but the trauma of dislocation causes inflammation and pain, which can last for days, and a vicious circle of events that make it difficult to recover and regain muscle and joint strength.
Commonly affected joints are the knee, shoulder, hip and jaw. Physiotherapy and occupational therapy is vital in EDS and patients require personalised exercise programmes to strengthen muscles and joints and remain mobile.
Non-stress activities, such as swimming, are particularly beneficial.
Weight bearing and contact activities should be avoided.
Despite physiotherapy, some individuals need to wear braces to stabilise joints or use crutches or a wheelchair.
The Pharmaceutical Journal, PJ, 24/31 May 2014, Vol 292, No 7811/2;292(7811/2):DOI:10.1211/
PJ.2014.11138392
Costello syndrome [wart like appearance on lips, loose skin (cutis laxa) on the neck, palms, fingers, and soles, skin may appear wrinkled and thickened, dry hardened patches of skin (hyperkeratosis) with unusually deep creases on the palms and soles]
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Ehlers-Danlos Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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