E = EHLER’S DANLOS

E

I am continuing on with April’s A to Z Challenge.  Today is the letter ‘E’ and since my theme is chronic illnesses of children, I am sure that all of you who follow my blog will not be surprised by my dedicated condition today.  But, I must say that you are probably some of the most educated people on the subject of Ehler’s Danlos around.  Thank you for bearing with me once again while I try to inform everyone about this horrible and devastating disease.  I do it to honor my courageous niece, Natalie, who lives everyday of her life with this condition that has stolen so much of her life and she continues to smile.  I love that girl.

The description of Ehler’s Danlos (EDS) was most likely given by Hippocrates in 400 B.C.  There were case studies done on children noted to have hypermobile  joints, sometimes referred to as ‘Double Jointed, and hyperextensible (stretchy) skin with the first to determine that it was a distinct disorder being Edvard Ehlers in 1901.  He also added that they had a tendency to bruise easily.  In 1908 Henri-Alexandre Danlos published another case history with the same disorder.  Thus, the name Ehler’s Danlos Syndrome (EDS).  The first mention of different types of EDS was in the 1960’s and formalized in 1988.  So you can see that this is a syndrome that has not been known about for long and with few patients to study.  The systemic classifications were redefined in 1997.

EDS is a group of inherited connective tissue disorders that are caused by defect in the synthesis of collagen.  It is known to affect men and women of all racial and ethnic backgrounds.  The syndrome is divided into six different types that all share joint laxity, soft, stretchy skin, easy bruising, and some systemic manifestations.

The first type of EDS is ‘The Classical Type. Children with this type have smooth, velvety skin that is stretchy, fragile and easily bruised.  They experience little bleeding from a wound, heal slowly, and the scars of thin and wide (‘cigarette paper’ scars.)  The hypermobility of their joints causes dislocations, sprains, and early onset arthritis.  They have weak muscle tone as infants and appear to be “floppy” and have delayed development of motor skills such as sitting, standing, and walking.  At least half of the children diagnosed with this type of EDS have Mitral Valve Prolapse, that affects the flow of blood between the chambers of the heart as shown below.  This type is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene is all that it takes to cause the disorder.  It is usually noticed when the child begins trying to walk and is assessed by the Beighton Scale seen below.

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The next type of EDS is Hypermobility and is identified by loose joints and chronic joint pain.  Both the large and small joints are unstable and certain joints (such as the shoulder, knee, and jaw) tend to dislocate frequently.  The chronic pain in the joints and limbs begins early in life.  Many affected by this type have varying skin symptoms and many have mitral valve prolapse (as we saw in the Classical Type.)  The diagnosis for the Hypermobility form of EDS is based entirely on clinical evaluation and family history.  It is an autosomal recessive disorder meaning that only one copy of the mutated gene is necessary to cause the disorder.  In this case, family members in each generation are usually affected but the features of the condition may vary.  It also may be a recessive pattern of inheritance.  This means that two copies of the genes be altered for a person to be affected by the disorder.  Usually the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the altered gene.

The third type of Ehler’s Danlos is called the Vascular Type and is characterized by possible arterial or organ rupture as a result of spontaneous rupture of vessels or organs due to the result of even minor trauma. This is the most serious form and the most difficult to diagnose, therefore, often misdiagnosed.  These patients have fragile skin that bruises easily.  Veins are visible beneath the skin, especially on the chest and abdomen, and the hands and feet may have an aged appearance. Facial features are often distinctive with protruding eyes, a thin nose and lips, sunken cheeks, and a small chin.  Other signs are extreme hypermobility of hand and foot joints, tearing of tendons and muscles, painfully swollen veins in the legs, lung collapse, and slow wound healing following injury or surgery.  Infants with this disorder may be born with hip dislocations and clubfoot, which causes the foot to turn inward and downward.  Unpredictable rupture of the arteries may cause internal bleeding, stroke, or shock, and is the most common cause of death in patients with this disorder.  Rupture of the intestine occurs in 25 to 30 percent of people with this type.  Few serious problems are seen in childhood, more than 80 percent experience severe complications by the age of 40.  The Vascular type of EDS is inherited by an autosomal dominant pattern, usually from a parent who has the condition. The others occur in people whose families have no history of the disease.

The fourth type of EDS is The Kyphoscoliosis Type and is identified by joint laxity and muscle weakness (hypotonia) at birth.  This leads to delayed gross motor development.  They have a progressive form of scoliosis at birth.  These patients frequently have a loss of ambulation in the second or third decade of their lives.  Tissue fragility with scarring and easy bruising are seen.  The sclera of the eye is fragile also and may lead to a rupture of the ocular globe after a minor trauma.  The Kyphoidscoliosis type of EDS is inherited in an autosomal manner.  It can be diagnosed through a urine test.

The fifth form of EDS is Dermatosparaxis Type.  These patients have severe skin facility and extensive bruising.  Wound healing is not impaired.  The skin texture is soft and sagging.  Large hernias (umbilical, inguinal) may also be seen.  It is diagnosed with a skin biopsy and is inherited in an autosomal recessive manner.

The sixth and final type of Ehler’s Danlos is Tenascin-X deficient Type.  It is known by joint hyper mobility, hyper elastic skin and fragile tissue without the distinctive scarring seen in the Classic type of EDS,  It is inherited as an autosomal recessive genetic trait, not seen in family members or only in one generation of members of the same family.

Thank you all for reading about this subject that is so close to my heart.  ❤️

Disclaimer:  The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about Ehlers-Danlos syndrome, should consult with a qualified healthcare professional.

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