FREE ESSAY ON EHLERS-DANLOS SYNDROME

EHLERS-DANLOS SYNDROME

Ehlers-Danlos sydrome (EDS) is a rare inherited group of connective tissue disorders
characterized by defects of the major structural protein in the body (collagen). Collagen
is a tough fibrous protein that plays an essential role in binding, holding together,
strengthening, and providing elasticity to bodily cells and tissues. There are six major
types of EDS that I will discuss, however I will only go into detailed discussion on two
of the six types of EDS. The two major types of EDS are Classical EDS and Hypermobile
EDS. These two types make up 90% of all EDS cases. I will discuss the general symptoms of
these two types along with pathology, then diagnostic factors, and the different
treatments for this disorder (Smith).
EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant,
or X-linked recessive traits. The primary characteristics are hyperextensible skin and
joints (Dia. 1-2, pg.6), tendency to bruise easily (Dia. 3, pg.6), reduced wound healing
capability, pseudotumors, and ocular defects. Differences within the six types may
reflect inter/intra familial variability or genetic heterogeneity. Each type of EDS is
classified symptoms and signs that are resulted (Clarke, D., Skrocki-Czerpak, K.,
Neumann-Potash, L).
There are approximately six types of EDS that have been distinguished but other types
exist that are very uncommon. Classical, Hypermobile, Vascular, Kyphoscoliosis,
Arthrochalasia, and Dermatosparaxis. Classical and Hypermobile make up over 90% of all
reported cases of EDS. With the Classical type of EDS a person would have hyperextensible
(stretchy) skin with widened atrophic scars and joint hypermobility. The skin is smooth
and velvety with tissue fragility and easy brusability. Also evident are molluscoid
pseudotumors (fleshy lesions associated with scars) frequently found over pressure points
(e.g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the
forearms and shins. Complications of joint hypemobility include sprains, dislocation are
common in the shoulder, patella and temporomandibular joints Muscle hypotonia and slower
gross motor development also can occur It is inherited in an autosomal dominant manner
(Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L.).
In the Hypermobile type of EDS the joints of the body experience Hypermobility, which is
the dominant clinical manifestation. General joint hypermobility affects large (elbows,
knees) and small (fingers and toes) joints are evident. Skin is hyperextensible,
smooth/velvety, and bruising occurs easily as well. Reoccurring joint dislocations are
common, and joints such as shoulder, patella, and temporomandibular joint dislocate
frequently. Chronic joint and limb pain is a common amongst individuals with Hypermobile
type EDS. Skeletal X-ray are normal, however the anatomical distribution is wide and
tender points can sometimes be elicited. To this day, researchers have not identified any
biochemical collagen finding. The Hypermobile type of EDS is inherited in an autosomal
dominant manner. The other four types of EDS that exist are less common, but have the
same general symptoms as Classical and Hypermobile types (e.g. skin hyperextensible and
the joint hypermobility). However, these types EDS have symptoms that occur in other
regions of the body, including the general symptoms. Different protein and enzyme
(collagen) disorder cause these other types of EDS. These other types are inherited in an
autosomal dominant manner and autosomal recessive manner. There are other types which are
very rare, and the molecular basis of which remains unknown, however they do know that
these rarities are X-linked (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).
The diagnosis of EDS is made upon clinical ground first, skin hyperelasticity, easy
bruising, dystrophic scarring, and joint hypermobility are the cardinal symptoms, which
may be present in different combinations and with variable severity. Diagnosis is often
impossible to make in infants and small children as abnormal joints hypermobility and
skin elasticity are difficult to recognize, however infants may present as floppy
infants. In children, joint hypermobility and hypotonia may cause delayed motor dev.,
problems with walking, and mild motor disturbances and often thought clumsiness. Other
characteristics can be hernias, gastrointestinal diverticula, mitral valve prolapse,
rectal prolapse, and easy inversion of the upper eyelid. There are laboratory test, which
may confirm, or exclude the diagnosis Classical, Vascular, Arthrochalasia,
Dermatosparaxis, and Kyphoscoliosis types of EDS. For Hypermobility type EDS there is no
biochemical marker and diagnosis is made on the basis of symptoms or family history.
Electron microscopic examination of a biopsy can show changes in the structure of
collagen fibers. It is not specific, but can used as a diagnostic tool for EDS in the
absence of a biological marker. In some patients an unequivocal classification cannot be
made. Coagulation tests are normal (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).
The prognosis of EDS depends on the type. Life expectancy can be shortened with the
Vascular type due to the rupture of organs and blood vessel, however life expectancy is
normal with all other types of EDS. Patients with EDS can be born prematurely because of
premature rupture of fetal membrane in some cases (McKissick: Smith). There is treatment/
management for EDS that could be recommended by a physician, and EDS should be approached
with care. A physician may prescribe braces to stabilize problems joints, but surgical
repair of joints is necessary at some time. Physical and occupational therapist are used
as well to help strengthen muscles and to teach people how to properly use and preserve
their joints. Ascorbic acid (vitamin-c) is used by some patients to help with the healing
of bruises Excessive sun exposure should be avoided without the daily use of sunscreen.
Ehlers -Danlos syndrome affects all races and ethnic groups and if you have one type of
EDS you cannot develop another type. However, individuals with the same type of EDS may
have slightly different manifestations because each of us is a unique individual (Clarke,
D., Skrocki-Czerpak, K., Neumann-Potash, L).
Diagram-1
Diagram-2
Diagram-3
National Organization for Rare Diseases. Ed. 1986. The National Organization for
Rare Diseases, Inc. 2 Oct. 2000 * http://www.stepstn.com/cgi
win/nord.exe?proc=GetDocument&rectype=0&recnum=240*.
Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L. Ehlers-Danlos Syndrome: The 
New Nosology. Loose Connections (August 1998). 
*http://www.ednf.org/*.
McKissick, V. Heritable Disorders of Connective Tissue. St. Louis, Mosby, 1972.
Ehler-Danlos Sydrome. 16 June. 1998
*http://www.mc.vanderbilt.edu/peds/pidl/genetic/ehlers.htm*.
Smith, D. Recognizable Patterns of Human Malformation. Saunders, 1982, p. 358.
Ehler-Danlos Sydrome. 16 June. 1998
*http://www.mc.vanderbilt.edu/peds/pidl/genetic/ehlers.htm*.
Bibliography
An overview of Ehlers-Danlos Syndrome. 3 Pages