Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component.
INHERITANCE
Occasional families show a considerable number of cases of this common disorder. A simple Mendelian mechanism could not be proved, however. Indeed, some (Burch et al., 1964) could not demonstrate significant familial aggregation.
Lynn et al. (1995) conducted family studies and segregation analyses of RA based on consecutive patients with RA ascertained without regard to family history or known risk factors. Included in the analyses were first-degree relatives from 135 simplex and 30 multiplex families. A highly penetrate recessive major gene, with a mutant allele frequency of 0.005, was identified as the most parsimonious genetic risk factor. Significant evidence for heterogeneity in risk for RA was observed for proband gender but not for proband age at onset. Kaplan-Meier risk analysis demonstrated significant evidence for differences in the distribution of risk among first-degree relatives. Although both proband gender and age at onset were identified as important risk factors, proband gender appeared to be the more important determinant of risk, with relatives of male probands having the greatest cumulative risk for RA. For future genetic analyses, Lynn et al. (1995) suggested that families with an excess of affected males having a young age at onset might be most informative in identifying the putative recessive gene and its modifiers.
Hasstedt et al. (1994) studied 28 pedigrees ascertained through pairs of first-degree relatives with RA. RA was confirmed in 77 pedigree members, including probands; the absence of disease was verified in an additional 261 pedigree members. Members of the pedigrees were typed serologically for HLA. Analyses supported the existence of an HLA-linked RA susceptibility locus, estimated the susceptibility allele frequency as 0.0216, and estimated the lifetime penetrance as 41% in male homozygotes and 48% in female homozygotes. Inheritance was recessive in males and was nearly recessive in females. In addition, the analysis attributed 78% of the variants with HLA genotypes to genetic or environmental effects shared by sibs. The genetic model inferred in this analysis was considered consistent with previous association, linkage, and familial aggregation studies of RA. The inferred HLA-linked RA susceptibility locus accounted for approximately one-half of familial RA, although it accounted for only approximately one-fifth of the RA in the population.
PATHOGENESIS
In a T-cell receptor transgenic mouse model, an inflammatory arthritis that resembles human RA is initiated by T cells but is sustained by antibodies to GPI (172400).
Genetic Family History Assessment All nurses, no matter where they practice, need to have proper training in genomics and genetics to provide the best information to clients regarding recognition, prevention, and/or treatment of diseases (Thompson & Brooks, 2011). Genetic family history can help clients discover the unique patterns of health and illness within their family. In this paper, I will complete a Genetic/Genomic Nursing Assessment using the information found in Kaakinen, Coehlo, Steele, Tabacco, & Hanson’s text (2015) in Box 7-7 (p. 198). I will identify three generations of a family, analyze the genetic health risks, and consider nursing strategies for this family. The woman featured in my genetic assessment will be referred to as LG.
Van Den Berg, S. M. and Others. 2012. Genetic analysis of rare disorders: bayesian estimation of twin concordance rates. Behavior genetics, 42 (5), pp. 857-865.
Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...
(“Systemic Lupus Erythematosus”, 2012). The primary factor in developing SLE is a genetic component although it is not fully understood (Robinson, Sheets Cook, & Currie, 2011). It has been shown that identical twins have a concordance rate of 24% whereas fraternal twins have a rate of 2% (“Systemic Lupus Erythematosus”, 2012). In addition, individuals have an 8-fold increased risk of developing SLE if they have a first-degree relative with the disease (Richman & Schub,
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
Rheumatoid arthritis is a chronic inflammatory and an autoimmune disease that occurs when the immune system mistakenly attacks the body’s tissue (Rheumatoid arthritis, 2017). This disease affects the entire body, which is called a systemic (means entire body) disease. Arthritis is derived from the word part arthr-, which means “joint,” and -itis, which means “inflammation,” so altogether it means “inflammation of the joints.” It creates inflammation that causes the tissue that lines the inside of joints (synovium) to thicken. About 1.5 million people in the U.S. are affected. It affects all races, but it affects three times as many women than men (What is Rheumatoid Arthritis, n.d.). Overtime, rheumatoid arthritis causes painful swelling that can potentially result in bone erosion or joint deformity, which leads up to physical disabilities. RA can affect more than just your joints, but can spread to body systems, skin, eyes, lungs, heart, blood vessels, e.t.c (Rheumatoid arthritis, 2017).
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Arthritis affects people of all age groups. More than 100 types of arthritis are known. Among these osteoarthritis and rheumatoid arthritis having the highest incidence. One of the major causes of chronic debilitation in industrialized nations is Osteoarthritis which results from damage to the joints, which may be due to trauma, infection, or age-related wear. Rheumatoid arthritis is encountered less frequently than osteoarthritis and is estimated to affect around one per cent of the world’s population. Amongst patients of Rheumatoid arthritis, women are three times more likely to be affected by this condition than men. This condition is caused by an inflammatory process where the body starts attacking itself. Rheumatoid arthritis also affects several joints, with inflammation sometimes seen in and around the lungs, the heart, the eyes and the skin. The most commonly reported complaint by arthritis patients is pain. The pain might be from the joint itself and be a result of inflammation, damage from the disease, or through daily wear and tear. Muscle pain is also common and is caused by having to force movements against stiff and painful joints. Although range of movement in the affected joint may be limited and uncomfortable, physical exercise has been shown to benefit those with arthritis. Physical therapy has been shown to significantly improve function, decrease pain in the long term and delay the need for surgery in advanced cases. The majority of arthritis cases occur among theelderly, however the disease can occur in children as well. Over 70% of the population that get affected by arthritis in North America are over the age of 65 (4). The disease occurs more commonly in females than males in all races, age groups, and ethn...
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
It is still unknown what the cause of Rheumatoid Arthritis is but there are some theories that have not been proven. The oldest theory states that viruses and bacteria are the cause of Rheumatoid Arthritis. Now with all the research being done, scientists believe that Rheumatoid Arthritis is hereditary. Specific genes have been found to make people more likely to get Rheumatoid Arthritis. Some scientists also think that some environmental factors and infections might cause the immune system to attack. Contributing factors are smoking and being exposed to silica metal. So although the exact causes are unknown, the result is that the immune system is ready to make the joins and tissues inflamed by activating immune cells.
Arthritis is a general term for approximately 100 diseases that produce either INFLAMMATION of connective tissues, particularly in joints, or noninflammatory degeneration of these tissues. The word means "joint inflammation," but because other structures are also affected, the diseases are often called connective tissue diseases. The terms rheumatism and rheumatic diseases are also used. Besides conditions so named, the diseases include gout, lupus erythematosus, ankylosing spondylitis, degenerative joint disease, and many others, among them the more recently identified LYME DISEASE.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Arthritis occurs when the body incorrectly identifies its own tissue as foreign matter and attacks it. Arthritis includes a set of more than eighty autoimmune diseases. Arthritis attacks connective tissues and joints. It causes stiffness, pain, inflammation, and swelling of the joints. Some kinds are crippling, but rarely leads to death. There are many different kinds of arthritis, the main ones being Osteoarthritis and Rheumatoid arthritis; others include gout and ankylosing spodylitis.
One of the most common mysteries in the world is the development of autoimmune diseases. An autoimmune disease is when the immune system, which usually keeps your body healthy thinks that your healthy cells are antigens and attacks them. This is irony right? It is against properties of evolution for an immune system to attack itself causing sickness and possibly death if untreated. There are about 80 different types of autoimmune diseases, which usually have periods of little to no symptoms and worsening symptoms. What particularly creates confusion in the world is the autoimmune disease, inflammatory bowel disease, which affects almost about five million people worldwide.