CE: Nursing Management of Patients with Ehlers-Danlos Syndrome.

OVERVIEW: Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder, has historically been misunderstood and underdiagnosed by health care providers. Because of the high degree of phenotypic variability, patients are often correctly diagnosed only after years of seemingly unrelated but debilitating injuries and illnesses. Specific genetic mutations have been identified for some, but not all, EDS types; patients presenting with a high index of suspicion should be referred to a geneticist. As awareness and recognition of the syndrome improve, nurses are increasingly likely to care for patients with EDS. This article gives a brief overview of the syndrome and provides guidance on ways to manage symptoms, recognize and prevent serious complications, and improve patients' quality of life.

Ehlers-Danlos syndrome and wound healing: injury in a collagen disorder.

Ehlers-Danlos syndrome (EDS) is a rare familial disorder affecting the production, quality and strength of collagen. It presents in many forms, and many individuals experience hypermobile joints and soft, elastic skin. When injury occurs, EDS can result in severe bruising, the development of wide open wounds and delayed healing (Babak et al, 2003). In the case discussed, Lilly, a 10-year-old girl, presented with a wide trauma injury to her lower leg. Healing was influenced by the poor collagen production associated with EDS, and the presence of a high bacterial burden that resulted in infection. Manuka honey was used to reduce the level of invading bacilli and stimulate production of collagen. Following this intervention, complete healing was achieved in two weeks. The action of manuka honey appears to be beneficial in the management of complex wounds, and further research is needed to determine its value in EDS. Involvement of Lilly and her family in clinical decision-making and in the production of this article resulted in a growth in understanding for all parties and the development of a relationship that optimized the nurse/patient experience.

The clinical presentation of Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS), a heterogeneous group of inheritable connective tissue disorders, is attributed to mutations in connective tissue genes. These mutations cause defects in collagen. Collagen, a connective tissue protein that acts like glue, gives strength to the body and provides support and elasticity for movement. Thus, the altered gene affects the mechanical properties of skin, joints, ligaments, and blood vessels. Ehlers-Danlos syndrome is transmitted through autosomal dominant, autosomal recessive, or x-linked patterns of inheritance. The life expectancy of an affected infant varies with the type of EDS. This article provides an overview of the 6 major classifications of EDS, their unique clinical presentations, a focused physical assessment guide, considerations for nursing care, and resources for parents. Ehlers-Danlos syndrome can be a potentially debilitating syndrome. It requires preventative and protective measures starting at birth to preserve joint function to improve infant outcomes. Caring for patients with EDS requires an understanding of the potential associated complications to help minimize the physical and emotional impact of the syndrome and improve the quality of life for affected individuals.

Ehlers-Danlos Syndrome, classical type: case management.

As the field of genetics expands, there will be more need for health care professionals to possess basic knowledge of genetic conditions and patterns of inheritance to assist their patients and to make the proper referrals. Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders that affects approximately 1 in 5,000 live births, including males and females of all racial and ethnic groups. The main characteristics of EDS are skin hyperextensibility, tissue fragility, and joint hypermobility. Diagnosis of EDS is often difficult due to the complexity of symptoms and lack of specific genetic tests. However, once a diagnosis is suspected or confirmed, nurses play a vital role in assisting the patient and family to manage the disorder. This article describes EDS symptoms and genetic basis, provides suggestions for management, and reviews resources available for health care providers, families, and patients with EDS.

Understanding Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome is an inherited condition in which the body produces defective collagen. Manifestations are highly variable, and include numerous skin abnormalities. Nurses play an important role in helping patients and their families live with this unusual disorder.