Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
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.
Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders. The syndrome can be described as heterogeneous because there are six major subcategories of EDS, each with slightly different characteristics and causes. The main characteristics of EDS are skin hyperextensibility, tissue fragility, and joint hypermobility. In addition to these three major characteristics, EDS can manifest easy bruising, prolonged bleeding, mitral valve prolapse, and chronic joint pain (Beighton, De Paepe, Steinmann, Tsipouras, & Wenstrup, 1998). The six major types of EDS are (a) classical type, (b) hypermobility type, (c) vascular type, (d) kyphoscoliosis type, (e) arthrochalasia type, and (f) dermatosparaxis type (Beighton et al., 1998).
Abstract and Introduction
Abstract
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.
Introduction
Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders. The syndrome can be described as heterogeneous because there are six major subcategories of EDS, each with slightly different characteristics and causes. The main characteristics of EDS are skin hyperextensibility, tissue fragility, and joint hypermobility. In addition to these three major characteristics, EDS can manifest easy bruising, prolonged bleeding, mitral valve prolapse, and chronic joint pain (Beighton, De Paepe, Steinmann, Tsipouras, & Wenstrup, 1998). The six major types of EDS are (a) classical type, (b) hypermobility type, (c) vascular type, (d) kyphoscoliosis type, (e) arthrochalasia type, and (f) dermatosparaxis type (Beighton et al., 1998).
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