Ehlers-Danlos Syndrome Analysis

Healthy digestive system is needed to have a proper elimination. This family suffered from chronic constipation, irregular bowl patterns, gas and heart burns. High stress and taking multiple over the counter medications contributed to this families altered elimination patterns. Their diet consists of foods that have low fiber, high starch and high fat, resulting in the constipation. Father suffered from prostate problems, which made him wake up multiple times middle of the night to urinate.

Patient reports no weight fluctuations. Denies fatigue, malaise, weakness, sweats, night sweats and chills. Patient reports mild left leg weakness secondary to left tibia fracture June 2012, but ambulates well and is able to be active in school sports, hiking, biking, and swimming. Patient reports working on building strength in left leg through sports and recreational activities. Patient reports asthmatic exacerbations with exercise. Patient reports trying to build lung capacity by running and swimming which exacerbates his asthmatic condition and uses inhalers.

Ehlers-Danlos syndrome (EDS) is a clinical diagnosis and is a connective tissue disorder characterized by a variety of degrees of joint hypermobility, skin extensibility and tissue fragility. If you have the vascular variety of EDS there is a likely 50% chance it could be passed down from parent to child. When trying to clinically define the pain in EDS, the findings are poor. There are nine different types of EDS and each type is distinguished from others but that depends on the system involved. “Most types of EDS are inherited as autosomal dominant trait, although x-linked and autosomal recessive types have been described” (Beighton). EDS type III is the most common disorder with presenting with generalized joint hypermobility

Emery-Dreifuss muscular dystrophy (EDMD) is a rare form of muscular dystrophy. It is another one that only affects boys that appears from childhood to the early teen years and sometimes as late as the age of twenty five. It causes muscles weakness and wasting in the shoulders, upper arms, shins, and often causes problems with the joints becoming tighter. Life threatening heart problems are common and can also affect those who do not have this disease, but simply carry the genes for it. This is a slow progressing disease and often has slow progressing muscle weakness compared to other forms of muscular dystrophy.

Looking back, there were a lot of things that made more sense following my diagnosis with Ehlers-Danlos Syndrome, commonly referred to as EDS. This is a rare genetic condition separated into six different types; Classical, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia, amd Dermatospraxis. There are varying degrees of symptoms and seriousness but a common thread is the defect in the collagen proteins which allow the skin, joints, connective tissues, and organs to function properly. EDS can also lead to many other unrelated diseases or disorders due to the malfunction in the body. The varying types and degrees in which EDS manifests itself makes getting a diagnoses difficult, especially at a young age.

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in $4 joints over a period $3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled

Amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease is a very progressive chronic disease. Lou Gehrig’s disease is named after a famous baseball player who developed the disease in 1939 as noted by New York State (2012). Lou Gehrig’s disease is a chronic disease that breaks down the nerve cells in the brain and spinal cord. The brain and spinal cord control the muscles throughout the body and if they are being destroyed the muscles will not move or work properly. According to New York State (2012), the disease is most common in people between the ages of 40-70, and as many as thirty thousand Americans suffer from the disease at any given time.

Elhers-Danlos syndrome, EDS is a group of inherited connective tissue disorder. Elhers-Danlos syndrome is a rare genetic disease caused by defects in the structure and synthesis of connective tissue protein: collagen. Collagen is the most predominant component of connective tissues such as skin, tendon, cornea and bones, making up more than 90% of the extracellular matrix protein (Uitto, 1986). Collagen is a strong, fibrous protein found throughout the body. It provides strength and support to the skin, bone, muscles, blood vessels, ligaments and many tissues and organs in the body. Research statistics show that 1 in 5000 people have EDS. This rare disease is prevalent in men and women of all racial and ethnic backgrounds (EDNF, 2016). In the past, Ehlers-Danlos syndrome had more than ten recognized types, each differentiated by Roman numerals. In 1997, researchers proposed a simpler method to classify these ten types and reduced the number of major

DOI: 6/28/2007. Patient is a 66 year old male ship-packer who developed pain from unloading stack of bread from trailer. Per OMNI, he underwent knee surgery on 5/28/2008, partial knee replacement on 4/12/2010, and elbow surgery on 5/08/2013.

Ehlers-Danlos syndrome (EDS), classic type is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. It includes two previously designated subtypes (EDS type I and EDS type II) that are now recognized to form a continuum of clinical findings. The skin is smooth, velvety to the touch, and hyperelastic; i.e., it extends easily and snaps back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is delayed, and stretching of scars after apparently successful primary

DOI: 7/18/1999. Patient is a 63-year-old male crew leader who sustained a work-related injury when he tripped over a mat at work. As per OMNI, the patient is status post left knee arthroscopy in 2001, knee replacement in 2004 and gastric bypass surgery in 5/2013.

and bowels. This problem can contribute significant impact to the life of one person. Some

Ehlers Danlos Syndrome has mutations in the gene collagen, type V, alpha 1 (COL5A1). Which is connected to the long arm (q) of chromosome 9 (9q34.2-q34.3) also the gene collagen type V, alpha 2 (COL5A2), on the long arm of chromosome 2 (2q31). People who have EDS have a 50% chance they have one of these mutations in their genes. Ehlers Danlos also has an autosomal dominant inheritance.

Ehlers-Danlos Syndrome (EDS) is a collection of heritable connective tissue disorders. Either directly or indirectly, Ehlers-Danlos Syndrome has been known or thought to alter the biology of collagen in the body. There are physical characteristics that are common to all types of Ehlers-Danlos Syndrome, including hypermobile joints (joints that move in greater amounts than expected) and skin involvement, such as any of the following: soft, stretchy, saggy, too thin, easy bruising, easy wounding, poor wound healing and/or atrophic scarring. Each type has very specific and unique features. It is very unlikely to have more than one type of Ehlers-Danlos syndrome, but as they have features and ‘biology’ in common, each type may appear to have

Fitz, C. R., & Wardrope, J. (2005). 9 Assessment and care of musculoskeletal problems. Emergency Medical Journal, 22(4), 68-76. doi:10.1130/emj,2005.021527