Most who suffer from EDS suffer daily with multiple symptoms. Some greater in severity than others. Below is a list of symptoms caused by EDS.Treatment
Medical Care: A correct diagnosis is critical if possible. Confirmation by biochemical studies on collagen molecules is possible by cultured skin fibroblasts. Therefore, if the clinical diagnosis is type IV, type VI, and some of the forms of type VII EDS, molecular genetic studies should be accomplished. Once a diagnosis of EDS has been made, further preventative measures should be taken.
A MedicAlert bracelet or other form of medically alerting jewelry can be helpful in the case of life-threatening events.
In the event of skin lacerations or other injuries, extreme care should be taken with the use of sutures. The treating physician should seriously consider the use of alternatives to sutures themselves, including the use of adhesive strips and wound glues.
Monitor patients for scoliosis and instruct them to avoid excessive or repetitive lifting and other events that produce undue strain or stress on their already hyperextensible joints.
Pay careful attention to the cardiac auscultation and evaluation. The murmur of mitral valve prolapse (particularly in types III, IV) should be noted, and, if indicated, an echocardiogram should be performed. In the presence of mitral valve prolapse, monitoring and screening are indicated, as well as the use of subacute bacterial endocarditis (SBE) precautions.
High dose (1-4 g per d) ascorbic acid therapy has been tried. There is potential theoretic effect from this therapy. Clinical studies suggest that wound healing in subjects, even those not deficient in vitamin C, can be improved with supplementation above the recommended daily allowance.
In patients with type VI EDS, after a 1-year interval of high dose vitamin C therapy, bleeding time, wound healing, and muscle strength seemed to improve. However, high-dose vitamin C therapy is not the standard of care.
Consultations:
Consultation with an ophthalmologist may be necessary. Patients with EDS should be screened for myopia, retinal tears, and keratoconus. Regular eye exams should be recommended.
Consultation with a dentist may be necessary. Patients with connective tissue disorders should practice meticulous dental care.
This should be monitored and aggressive management of periodontitis should be accomplished. This is true particularly for, but not limited to, type VI EDS.
One of the most critical issues in the management of patients with Ehlers-Danlos syndrome is the provision of accurate genetic counseling.
The family should be provided with detailed information regarding the inheritance pattern, recurrence risks, and the identification of at-risk family members. Pertinent individuals in the family should be screened for subtle signs and symptoms of the condition with or without a suggestion from the family history.
The prognosis and natural history of the particular type of EDS should be discussed in detail with the family.
A key element in the genetic counseling process includes the triage toward indicated medical services and, most importantly, resource identification. The identification of support group resources and other information should be provided to the family.
Activity:
Instruct patients with EDS to avoid excessive or repetitive lifting and other events that produce undue strain or stress on their already hyperextensible joints. Patients also should be advised to avoid (preventable) significant trauma.
Patient Education:
Genetic counseling: The diversity and complexity of the EDS serve to highlight several important principles of clinical (human) genetics. In counseling families, it is critical that these principles be accurately relayed to, and understood by, the family.
Genetic heterogeneity refers to the fact that mutations in different genes can produce the same phenotype. For example, type I Ehlers-Danlos syndrome can result from mutations in either the collagen 5A1 (9q34.2-34.3) or collagen 5A2 gene (2q31).
Allelic heterogeneity means that mutations of the same gene, in different parts of the gene, produce a different phenotype. For example, it is suspected that mutations of type 3 collagen are responsible for the phenotypes of type III, IV, and VIII Ehlers-Danlos syndrome.
Variable expression (ie, variability in the severity of disease expression) is a hallmark of autosomal dominant conditions. The autosomal dominant Ehlers-Danlos syndromes exhibit both intrafamilial and interfamilial variability, which is a critical counseling issue in regard to recurrences. It also is important to examine family members closely for persons who may not have been diagnosed in the past because of their mild degree of expression.
Overlap of phenotypes: As mentioned earlier, an indeterminate diagnosis of a clinical subtype of Ehlers-Danlos syndrome may not be possible in as many as 50% of cases. It is important that the clinician-let patients know when the diagnosis is either unknown or unclear, rather than guess and give errant information. Important implications clearly exist for the different modes of inheritance, as well as differences in the long-term prognosis for the different subtypes of Ehlers-Danlos syndrome.
Availability of diagnostic/laboratory studies: Currently, only a few of the EDS have diagnostic confirmation by laboratory studies practically available. An important point to note is that there is a prevailing misconception that specific findings on skin biopsy exist which can make or rule out the specific diagnosis of EDS. It is important to note that there are no specific histopathological findings on skin biopsy in patients with EDS. Therefore, skin biopsies should not be done to make or rule out a diagnosis. However, a skin biopsy may be indicated in order to obtain cultured skin fibroblasts to perform specific biochemical and molecular studies, but the majority of times the patient will have to simply rely on a clinical diagnosis.
Encourage patients to be protective of their joints. Undue trauma to the joints obviously should be avoided. Also, instruct the patient to avoid entertaining other persons and performing "party tricks" for the sake of amusement. Continued excessive stretching of the joints only further exacerbates the underlying disorder.
Instruct patients to avoid excessive or repetitive lifting and other events that produce undue strain or stress on there already hyperextensible joints.
Patients with connective tissue disorders should practice meticulous dental care. This should be monitored and aggressive management of periodontitis should be accomplished. This is true particularly for, but not limited to, type VI EDS.
Patients with Ehlers-Danlos syndrome should maintain regular visits to an ophthalmologist and need to be screened for myopia, retinal tears, and keratoconus.
Because of the poor wound healing and the fragility of the skin, patients with EDS should avoid undue trauma to their skin and other organ systems. In particular, the primary care physician should strongly discourage potentially traumatic recreational activities.
Medical/Legal Pitfalls:
Of particular note is type IV EDS. It is critical that this condition be diagnosed accurately by biochemical or molecular testing and that the counseling provide detailed information regarding a variety of important issues, including the following:
*Emergency issues
*Surgery issues
*Pregnancy issues (which may, in fact, be life-threatening)
*Gastrointestinal issues
Special Concerns:
*Pregnancy represents a special issue in Ehlers-Danlos syndrome. The critical element clearly is the pre-pregnancy identification of the syndrome and to anticipate potential complications or problems. EDS presents a specific set of risks for both mother and baby.
*risks for the mother include uterine prolapse, uterine tear, poor wound healing during the postpartum period, and excessive bleeding both during and after delivery.
*The risks for the baby include premature rupture of the membranes with secondary premature delivery and all inherent complications thereof. In addition, significant joint laxity already present in the newborn period may be mistaken for hypotonia and a misdirected diagnostic workup pursued.
Research/Reference:
Agnew P: Evaluation of the child with ligamentous laxity. Clin Podiatr Med Surg 1997 Jan; 14(1): 117-30[Medline].
Beighton P: The Ehlers-Danlos Syndromes. Chapter 6. McKusick's Heritable Disorders of Connective Tissue 1993; 189-193.
Burrows NP: The molecular genetics of the Ehlers-Danlos syndrome. Clin Exp Dermatol 1999 Mar; 24(2): 99-106[Medline].
Freeman RK, Swegle J, Sise MJ: The surgical complications of Ehlers-Danlos syndrome. Am Surg 1996 Oct; 62(10): 869-73[Medline].
Grahame R: Joint hypermobility and genetic collagen disorders: are they related? Arch Dis Child 1999 Feb; 80(2): 188-91[Medline].
McDowell G, Gahl WA: Inherited disorders of glycoprotein synthesis: cell biological insights. Proc Soc Exp Biol Med 1997 Jun; 215(2): 145-57[Medline].
Ploeckinger B, Ulm MR, Chalubinski K: Ehlers-Danlos syndrome type II in pregnancy. Am J Perinatol 1997 Feb; 14(2): 99-101[Medline].
Pope FM, Burrows NP: Ehlers-Danlos syndrome has varied molecular mechanisms. J Med Genet 1997 May; 34(5): 400-10[Medline].
Raff ML, Byers PH: Joint hypermobility syndromes. Curr Opin Rheumatol 1996 Sep; 8(5): 459-66[Medline].
Schievink WI: Genetics and aneurysm formation. Neurosurg Clin N Am 1998 Jul; 9(3): 485-95[Medline].
Schmitz R, Dufty JW, De P: Absence of a sharp glass transition in mode coupling theory. PHYSICAL REVIEW LETTERS 1993 Sep 27; 71(13): 2066-2069.
Solomon JA, Abrams L, Lichtenstein GR: GI manifestations of Ehlers-Danlos syndrome. Am J Gastroenterol 1996 Nov; 91(11): 2282-8[Medline].
Thomas DM, Wright JL, Soucek S: Ehlers-Danlos syndrome: aural manifestations and treatment. Am J Otolaryngol 1996 Nov-Dec; 17(6): 432-3[Medline].
Tschernogobow A: Ein fall von cutis laxa. Jahresber Ges Med 1892; 27: 562.
