Elhers-Danlos Syndrome

 1 in 2,500 to 1 in 5,000 people.

 Recent clinical experience suggests that Ehlers-Danlos syndrome may be

more common. The conditions are known to affect both males and
females of all racial and ethnic backgrounds.

Ehlers-Danlos syndromes are a group of conditions that cause very flexible joints and stretchy and fragile skin.

Symptoms/ Clinical Manifestations

Joints
Joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain;
hyperextensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis.

Skin
Soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be
severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions
associated with scars over pressure areas).

Miscellaneous/Less Common
Chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type);
arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); scoliosis at birth and scleral
fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type);
mitral valve prolapse; and gum disease.

 Each EDS subtype has a set of clinical criteria that help guide diagnosis; a patient’s physical signs and
symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete
fit.
 Pregnancy-related deaths occurred in 30 of 565 deliveries (5.3%). There was no difference in Kaplan–Meier
survival curves between parous versus nulliparous women with vascular Ehlers–Danlos syndrome. Interviews
with 39 women indicated that 46% of deliveries were uncomplicated. The most common pregnancy-related
complications were third-/fourth-degree lacerations (20%) and preterm delivery (19%). Life-threatening
complications occurred in 14.5% of deliveries and included arterial dissection/rupture (9.2%), uterine rupture
(2.6%), and surgical complications (2.6%). There were 5 maternal deaths in 76 deliveries (6.5%).
 There is no cure for Ehlers-Danlos syndrome, but treatment can help you manage
your symptoms and prevent further complications.16 Oct 2020
Medications
Your doctor may prescribe drugs to help you control:

 Pain. Over-the-counter pain relievers — such as acetaminophen

(Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen
sodium (Aleve) — are the mainstay of treatment. Stronger
medications are only prescribed for acute injuries.
  Blood pressure. Because blood vessels are more fragile in some
types of Ehlers-Danlos syndrome, your doctor may want to reduce the
stress on the vessels by keeping your blood pressure low.

Physical therapy
Joints with weak connective tissue are more likely to dislocate. Exercises to
strengthen the muscles and stabilize joints are the primary treatment for
Ehlers-Danlos syndrome. Your physical therapist might also recommend
specific braces to help prevent joint dislocations.

Surgical and other procedures

Surgery may be recommended to repair joints damaged by repeated
dislocations, or to repair ruptured areas in blood vessels and organs. However,
the surgical wounds may not heal properly because the stitches may tear
through the fragile tissues.

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 The risk of pregnancy-related complications is increased in women with vascular
Ehlers–Danlos syndrome compared with the general population; however, survival
data indicate that pregnancy does not appear to affect overall mortality
compared with nulliparous women with vascular Ehlers–Danlos syndrome.
 Ehlers-Danlos syndrome type IV results from mutations in the COL3A1 gene, which encodes
the polypeptides in type III collagen. Despite advances in the molecular genetics of these
two disorders, there is not a molecular diagnostic test for these syndromes based on the
identification of gene mutations.
 Ehlers-Danlos syndrome type IV results from mutations in the COL3A1 gene, which encodes
the polypeptides in type III collagen. Despite advances in the molecular genetics of these
two disorders, there is not a molecular diagnostic test for these syndromes based on the
identification of gene mutations.
