EHLERS-DANLOS SYNDROME

Definition: is a group of inheritedconnective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connective tissue). The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century. [1]

Other Names: Cutis hyperelastica [1

Description 

Ehlers-Danlos Syndrome (EDS) is a genetic disorder, and therefore runs in families. The disease often effects collagen in connective tissue (this helps tissues to resist deformation). Especially in the skin but also in muscles, ligaments and visceral organs collagen plays a very significant role and with increased elasticity due to abnormal collagen, disease pathology results. [1] Depending on the individual mutation of the connective tissue, the severity of the syndrome can vary from mild to life-threatening. There is no cure for Ehlers-Danlos Syndrome and treatment is supportive, including close monitoring of the patient for further manifestations of the disease. [1]

Symptoms

Signs and symptoms vary widely based on which type of EDS the patient has. In each case, however, the signs are ultimately due to faulty or reduced amounts of Type III collagen. 

Joints: Loose or tight joints are a hallmark of EDS. Also joint pain; hyperextensible joints (they move beyond the joint’s normal range); and osteoarthritis are noted to occur. [3]


Skin: Skin with abnormal collegen will have qualities such as variable skin hyper-extensibility and fragile skin that tears or bruises easily. Also severe scarring; slow and poor wound healing; and even lesions can form. [3]

Miscellaneous and Less Common: One indicator of the hypermobility type of EDS is chronic and early onset debilitating musculoskeletal pain. Also internal organ fragility or rupture is usually associated with the Vascular Type. Scoliosis at birth and fragility of the spine is associated with the Kyphoscoliosis Type. Other possible symptoms include poor muscle tone and gum disease. [3]

Types of EDS

There are six major types of EDS that are classified according to the signs and symptoms associated with the particular type. Each type of EDS is a distinct disorder that “runs true” in a family, which means an individual with Vascular Type EDS will not have a child with Classical Type EDS. Three of the most common are listed here.

Classical (Formerly EDS Types I & II)

Marked skin hyperextensibility (stretchy skin), widened atrophic scars and joint hypermobility are found in the Classical Type of EDS. The skin manifestations range in severity and often the skin is smooth and velvety, fragile and will bruse easily. Examples of conditions associated with tissue extensibility and fragility include hiatal hernia, anal prolapse in childhood and cervical insufficiency.  This is the most common type of EDS. [3]

Hypermobility (Formerly EDS Type III)

Joint hypermobility is the primary clinical manifestation for type III EDS. This type of EDS has generalized joint hypermobility that affects large (elbows, knees) and small (fingers and toes) joints. Recurring joint subluxations and dislocations are common occurrences. [3] Certain joints, such as the shoulder, patella, and temporomandibular joint dislocate frequently. The skin involvement (hyperextensibility and/or smooth velvety skin) as well as bruising tendencies in the Hypermobility Type are present but variable in severity. Chronic joint and limb pain is a common complaint amongst individuals with the Hypermobility Type. [3]

Vascular (Formerly EDS Type IV)

Type IV EDS is an autosomal dominant defect in the type-III collagen synthesis. The vascular type is considered one of the more serious forms of Ehlers-Danlos syndrome because blood vessels and organs are more prone to tearing (rupture), which can lead to serious complications, internal bleeding and death. Patients with EDS type 4 often express a characteristic facial appearance (large eyes, small chin, thin nose and lips, lobeless ears). They also tend towards a small stature with a slim build and typically have thin, pale, translucent skin. [4]

Type IV EDS affects approximately 1 in 100,000 to 250,000 people. About one in four people with vascular type EDS develop a significant health problem by age 20 and more than 80 percent develop life-threatening complications by age 40.

Prognosis

The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Some individuals have negligible symptoms while others are severely restricted in their daily life.[4], [5]

References

  1. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews’ Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 512.
  2. Lawrence EJ (2005). “The clinical presentation of Ehlers-Danlos syndrome”. Adv Neonatal Care 5 (6): 301–14.
  3. What is EDS? Ehlers-Danlos National Foundation. http://www.ednf.org/index.php?option=com_content&task=view&id=1347&Itemid=88888968
  4. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ (1998). “Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)”. Am J Med Genet 77 (1): 31–7.
  5. University of Washington School of Medicine. EDS. http://www.orthop.washington.edu/uw/ehlersdanlos/tabID__3376/ItemID__32/PageID__1/Articles/Default.aspx