Genetics of Ehlers-Danlos Syndrome Treatment & Management

Updated: Jul 20, 2017
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

A correct diagnosis in patients with Ehlers-Danlos syndrome (EDS) is critical and must be determined if possible.

Biochemical studies on collagen molecules are possible with cultured skin fibroblasts to confirm vascular type EDS (type IV), arthrochalasia type EDS (type VII A and B), and dermatosparaxis type EDS (type VIIC). A diagnostic assay of urinary pyridinoline cross-links identifies the kyphoscoliosis type EDS (type VI). Therefore, if the clinical diagnosis suggests the vascular type, kyphoscoliosis type, or a subtype of arthrochalasia type EDS, perform biochemical or molecular studies.

Once a diagnosis of EDS is made, preventative measures should be taken. Wearing a MedicAlert bracelet identifying a patient with EDS can help in case of a life-threatening emergency, such as arterial rupture or carotid-cavernous fistula.

In the event of skin lacerations or other injuries, take extreme care with the use of sutures. Seriously consider alternatives to sutures, such as wound glues and adhesive strips.

Monitor patients for scoliosis. Instruct them to avoid excessive or repetitive lifting and other activities that produce undue strain or stress on their already hypermobile joints. Recommended is low-resistance exercise to help increase muscle tone and stabilize loose joints. Physical therapy performed by a therapist who is experienced in working with patients with connective-tissue and joint dysfunction can be very helpful in the management of long-term health. In patients with EDS and who report reduced physical activity, a dual-energy x-ray absorptiometry (DEXA) scan is recommended to assess for low bone density (a common finding in these patients).

Pay careful attention to cardiac auscultation and evaluation. The murmur of mitral valve prolapse (particularly in classical and hypermobility types of EDS) should be noted. Perform a baseline echocardiogram, including views of the aortic arch and aorta. Recent studies indicate a risk for thoracic aortic enlargement in patients with classical Type EDS (types I and II). Children with normal results should be reevaluated every 1-2 years and adults every 3-5 years. Any indication of aortic enlargement should be reevaluated every 1-2 years. If mitral valve prolapse is diagnosed, monitoring and screening are indicated to address subacute bacterial endocarditisprecautions.

Adults with vascular type EDS (type IV) are at risk for arterial aneurysm and rupture, noninvasive visualization of the arterial tree may be indicated. [17]

High-dose (1-4 g/d) ascorbic acid (vitamin C) therapy has been tried and, in theory, has a potential effect. Clinical studies suggest that wound healing, even in patients not deficient in vitamin C, can improve with supplementation above the recommended daily allowance. In patients with kyphoscoliosis type EDS, bleeding time, wound healing, and muscle strength seem to improve after 1 year of daily high-dose vitamin C therapy; however, high-dose vitamin C therapy is not considered the standard of care and requires medical clearance for use.

Recombinant factor VIIa has been used to help control surgical bleeding, but experience is limited and the usual surgical precautions for patients with EDS should be followed. [32] Desmopressin may also be effective in reducing bleeding time, but the safety and efficacy of desmopressin in the prevention and treatment of bleeding in EDS remains to be established. [33, 34]

Pregnancy

Pregnancy represents a special issue in patients with certain types of Ehlers-Danlos syndrome (EDS). The critical elements are clearly prepregnancy identification of the syndrome and anticipation of potential complications or problems. EDS presents a specific set of risks for both mother and infant.

Maternal risks are cervical insufficiency, uterine prolapse, uterine tear, poor wound healing during the postpartum period, and excessive bleeding both during and postdelivery.

Infant risks are premature rupture of membranes with secondary premature delivery and all inherent complications. Be aware that significant joint laxity present in the newborn period may be mistaken for hypotonia, resulting in a misdirected diagnostic evaluation. [35]

Kyphoscoliosis type EDS (type VI), diagnosed in a pregnant woman, was reported to be associated with both maternal and infant mortality. [36]

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Surgical Care

Surgery may be indicated to correct fractures and stabilize dislocated joints. Surgical teams caring for patients with Ehlers-Danlos syndrome (EDS) need to be informed of any history of vascular or bleeding problems and will preferentially use staples or tape (rather than stitches) for wound closure. [37]

A study by Larson et al indicated that patients with hypermobility type EDS suffering from femoroacetabular impingement (FAI) and extreme capsular laxity can be effectively treated with capsular plication, arthroscopic correction of FAI, and labral preservation, without the occurrence of iatrogenic dislocations. The study, which included 16 hips and had a mean follow-up period of 45 months, reported significant patient improvement on the modified Harris Hip Score, the 12-Item Short Form Health Survey, and a visual analogue scale for pain. [38]

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Consultations

Consultation with an ophthalmologist may be necessary. Patients with Ehlers-Danlos syndrome (EDS) should be screened for myopia, retinal tears, and keratoconus. Recommend regular eye examinations.

Consultation with a dentist is necessary. Patients with connective-tissue disorders must practice meticulous dental care, which cannot be neglected. Temporomandibular disorders, facial/jaw pain, and bone/tooth density need proper assessment and care. Treat periodontitis aggressively. Patients with kyphoscoliosis type EDS (type VI) are at particular risk.

Comprehensive, accurate genetic counseling is one of the most critical issues in the treatment of patients with EDS. Provide the family with detailed information regarding the inheritance pattern, recurrence risks, and identification of at-risk family members. Screen pertinent individuals in the family for subtle signs and symptoms of the condition, regardless of whether signs or symptoms are suggested by the family history. Discuss the prognosis and natural history of the particular EDS Type in detail with the family. A key element in the genetic counseling process includes triage toward indicated medical services and, most importantly, resource identification. Identify support group resources and provide other information to the family, such as the Ehlers-Danlos National Foundation.

Provide referrals for mental health support with a psychologist and/or psychiatrist to discuss with the patient the impact of living with a chronic illness and the toll of daily life limitations. Caregivers and family members can also benefit from this assistance. [12, 37]

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Activity

Instruct patients with Ehlers-Danlos syndrome to avoid excessive or repetitive heavy lifting and other movements that produce undue strain or stress on their already hypermobile joints (eg, finger hyperextension that occurs with pushing off of a wall with the palms of the hands). [39] Advise patients to minimize joint trauma by avoiding joint hyperextension or locking of the joints. Recurrent hyperextension of the joints may lead to a traumatic arthritis with associated joint pain. [37] However, appropriate strengthening exercises and carefully monitored low-level weight training may improve joint stability. Guidance from a physical therapist is recommended.

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