Evidence Based Practice: Marfan Syndrome

R/s Ms. Rose expressed to Dr. Justice that she doesn’t like being by herself and wants be placed in assisted living. R/s on July 08, Ms. Rose visited the ER for a urinary tract infection and she back today complaining of abdominal pain. R/s Ms. Rose has been advised that she needs to her medication when she is prescribed. R/s a sitter is in the home from 4 pm to 7 pm Monday-Friday.

Marfan syndrome is a connective tissue disorder that is caused by an increase in the production of

(Giarelli, Bernhardt, & Pyeritz, 2010, Lashley, 2007 ,Canadas et al., 2010). The mutant gene is found on an autosome consequently, the syndrome can affect males and females equally. While, only one copy of the mutant gene is necessary for the disorder to be present (Lashley, 2007). Fibrillin-1 is a large gene, made of complex glycoproteins that are responsible for the flexibility and strength of connective tissue (Giarelli, Bernhardt, & Pyeritz, 2010 & Gonzales, 2009). Fibrillin-1(FBN1) is most abundant in the cardiac, ocular and, skeletal system throughout the body. This glycoprotein can also be found in elastic and non- elastic tissues and is a chief component of microfibrils. Microfibrils maintain cellular bonds in the extracellular matrix and form the framework of elastic fibers in the aorta and ligaments of the musculoskeletal system and multiple organ systems (Keane & Pyeritz, 2008). These microfibrils consist of the structural parts that support the ligaments in the ocular lens and have a load-bearing role in elastic arteries (Chen & Buehler, 2010). As a result of the mutation in the FBN1 gene abnormalities occur in the microfibrils and can cause faulty connective tissue. The mutations were thought to create weakness of the aortic wall, lens dislocation, joint hyperlaxity and, widening

CM telephoned Alisa MaCarthy regarding the family functioning of Victoria Biascoehea. Alisa reported that Victoria is her aunt, and she has known her all her life. She reported that she normally sees them every day. She reported that she doesn’t have any concerns regarding the home or the children. Alisa reported that the children are always well taken care of, the Victoria normally puts the children’s needs before her own. She reported that she was aware that Victoria had involvement with DFCS. Alisa reported that she has never seen any marks or bruises on the children. Alisa reported when she sees the children, they are always well dressed, and she reported her daughter normally takes about two hours in the restroom getting dressed. She

In regular, healthy people the filament discharge growth factors at the right time, but individuals who have Marfan syndrome are ending up having the discharge happen too soon. This early release of growth factors gives the person's abnormal lengthy limbs. This gene does not discriminate on age, ethnic group, or gender; anyone can be affected. 1 in every 5,000 people in the United States are diagnosed with Marfan syndrome (NIH, 2010). Strangely, it is uncommon in other countries. One parent with the genetic disorder has a 50 percent probability of passing it to his or her offspring (Frey R, Sims J, 2010). Marfan syndrome is largely inherited, although about 30 percent of diagnosed reports have described various mutations of the FBN1 gene in people with no family history of the disorder (Frey R, Lutwick L, 2009). Individuals with this disease can live an average life span if they receive the proper diagnosis and treatment. Early detection and treatment is essential for people with Marfan syndrome because it can cause heart problems which can produce other horrible symptoms. Some patients who even do treatment may die at a young age due to heart problems. The life expectancy of people with Marfan syndrome has increased due to new medications and surgical procedures for the heart (Frey R, Lutwick L,

At the age of thirty-three years old Montress faced the hardest thing she’ll have to go through, a divorce. Jay Edwards and Montress Edwards parted their ways. After the divorce she moved back to Charleston with her two kids and lived with her elderly mother, who had Alzheimers in downtown Charleston. He settled down, found a job, and found happiness. In 2012 her mom died from Breast Cancer and Alzheimer's. Her hardships made her a stronger, better, and wiser

Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning

Apart from this, Marfan syndrome has several symptoms. However, the most prominent indicators affect the skeletal, cardiac, and optical systems. The entire fibrous connective can also be affected (4). Other signs include extreme nearsightedness, an abnormally curved spine, flat feet, excessively limbs, and extraordinary and overcrowded teeth. The central cause of the condition is a deficiency in the gene that enables the human body to produce the fibrillin protein, which provides the connective tissue the strength and power to support the body organ (4). Along with this, an individual inherits the abnormal from parents who had the disorder, and the condition can occur in men and women in all races as well as

Every individual experience Marfan syndrome differently. Everyone has different combinations of features. Some features of Marfan syndrome are easier to detect than others. These include:

FBN1 mutations are associated with a broad continuum of physical features ranging from isolated features of Marfan syndrome to a severe and rapidly progressive form in newborns. The most common symptom of Marfan Syndrome is Myopia. Myopia is when the connective tissue changes in the eye. Victims of Marfan syndrome also have an increased for retinal detachment, glaucoma and early cataract formation.

Marfan syndrome is a histological disorder that specifically deals with one of the four primary types of tissue known as connective tissue. Marfan syndrome is also considered an autosomal dominant disease, meaning this disorder requires only one parent or donor to carry the abnormal gene for it to be inherited in the offspring. The inheritance of the abnormal gene is the biological basis or genetic trigger that results in a mutation that occurs in the gene named fibrillin-1, or short FBN1. The respective location of gene FBN1 is on chromosome 15. Function of the FBN1 gene includes storing the blueprints for making the glycoprotein fibrillin-1, which is a component of many tissues. When produced, the fibrillin-1 protein exits the cell via transport

Just think if you could remember everything you read or remember every detail in a painting. People with Savant Sydrome are autistic, but some can do something extraordinary whether it has to do with art or just remember everything. There are a lot of intriguing diseases in the world; these include Marfan syndrome, Savant Syndrome, and Jumping Frenchmen of Maine.

Early diagnosis and advances in medical technology has improved the quality of life for many individuals who have been diagnosed with Marfan syndrome. In addition, the early risk factors (such as aortic dilation)

Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue, affecting mostly the skeletal, ocular and cardiovascular systems, caused by mutations in the FBN1 gene. (Fernandes et al 2016) It was first described just about 100 years ago and was one of the first conditions classified as a heritable disorder of the connective tissue. MFS lies at one end of a phenotypic spectrum, with people in the general population who have one or another of the features of MFS at the other end, and those with a variety of other conditions in between. (Pyeritz 2000) One in four cases of MFS occur through due to a random mutation the rest are inherited. (Lima et al 2010) Marfan syndrome affects anywhere from 1–2/10,000 individuals and has a large amount of variation in its symptoms and severity. The incredible variability of Marfan syndrome and the lack of identifiable phenotype-genotype correlations point to the occurrence of modifier genes. (Fernandes et al 2016) According to Groth et al. the prevalence of MFS could increase because during their 38 year study they saw a clear rise in prevalence. The age of diagnosis for MFS can range throughout an entire lifetime however the median age of diagnosis is 19 years old. It has the potential to be a life threatening

Patients with Marfan syndrome present with skeletal abnormalities such as an arm span-height ratio >1.05, hyperextensibility and ligamentous laxity, scoliosis, and chest wall deformities. The prevalence of Marfan syndrome is about 1 in 5000-7000 people.