Hepatic Wilson Disease Linkage Analysis

As the Directors at Sharp Reese Medical Facility it is important to raise awareness about the importance of the liver to the human body and the many important functions that it performs for the body such as digestion and the filtration of toxins and drugs from

Metabolism and genetics also participate in cirrhosis for example abnormal collection of iron (hemochromatosis) or copper (Wilson's disease) in the liver causing injury, scarring and cirrhosis. Further cause of cirrhosis is the Autoimmune chronic active hepatitis that happens when the immune system attacks the liver and causes inflammation, damage, and cirrhosis. Drugs and chemicals also cause injury of the liver.

1. What are the common manifestations of alcoholic cirrhosis? Which of these are secondary to

Mr. Wilson is a 47 year old man being evaluated for complaints of fatigue, anorexia and abdominal distention. On examination, it is noted that the skin is jaundiced and the liver enlarged. D.W. denies significant alcohol or drug use. He denies any known exposure to hepatitis and has never been vaccinated for hepatitis. He is taking no medication. Laboratory tests reveal the following and a diagnosis of acute hepatitis B is made:

In the presented case scenario, we have Mr. Gil Martin who is a 55-year-old Hispanic male. He comes in to the clinic today with complaints of weakness, fatigue, and loss of appetite. A student nurse will be precepting your assessment of Mr. Martin and when collecting subjective and objective data it is important to pay close detail to all findings. Ultimately this patient was diagnosis with cirrhosis, which is an abnormal liver condition that leads to irreversible scarring of the liver (National Institute of Health [NIH], 2017), so during assessment we should pay attention to details leading to this diagnosis.

poor health that he had to deal with since his childhood. Wilson always had a

It is essential to treat Wilson's disease. The earlier treatment is started, the better the chance of preventing long-term permanent damage to the liver or brain.

Wilson’s disease can be deadly if not treated. “Many people with Wilson's appear and feel healthy; severe liver damage can occur before there are symptoms of the disease,” says Often those who have Wilson’s Disease experience liver trouble due to too much copper being deposited into the liver. The liver acts like a sort of filter, like a kidney, to protect our bodies from gaining too much copper. In some cases, a liver transplant is necessary, especially if liver failure and cirrhosis occur.3 In a normal person, copper is gained through food in small

Hepatolenticular Degeneration disease, also known as Wilson’s disease is classified as a rare autosomal recessive disease. The disease affects about 20,000 citizens in the United States between the ages of 3 and 26. Wilson’s disease is often confused with other diseases such as Liver disease. Often people with Wilson’s disease are diagnosed with Liver disease first before showing other signs causing doctors to continue testing and alter treatments.

Although it can have highly variable clinical presentations, hepatic and neurological symptoms are the main clinical features of Wilson’s disease, and about half of Wilson’s Disease patients present with neurologic symptoms. Patients with this disease require lifelong treatment, because interruption of therapy or inadequate treatment can lead to death within 9 months to 3 years, whereas appropriate treatment can result in stability or improvement of symptoms.

An established fact about Wilson’s disease is that it causes fatigue, lack of appetite, and abdominal pain. When copper builds up in your body it causes trouble walking and speaking. Imagine having slurred speech and trouble walking. The main condition of Wilson’s disease is muscle stiffness that causes walking difficulty.

Some foods, such as chocolate, liver, nuts, mushrooms, and shellfish contain high levels of copper. Treatment for Wilson’s Disease includes to simply avoid these foods and to make such dietary changes (Ala et. al, 2007). This form of therapy is rarely used alone and accompanied by the use of medication. For patients unable to adjust to the medication or have presented severe deteriorating hepatic symptoms of Wilson’s Disease before other treatment was ever possible, a surgical orthotopic liver transplantation is often carried out if they meet the criteria as a suitable candidate. According to several studies, liver transplantation of this nature presents a phenotypic cure through a partial correction of the metabolic defect (Bellary et. al, 1995). Therefore, the survival rate for Wilson’s Disease patients who successfully undergo an orthotopic liver transplantation have a long-term survival rate of approximately eighty percent (Bellary et. al,

Wilson’s disease is a rare genetic disorder affecting about 1 in 30,000 people (Schilsky, 2014) in which excess copper accumulates in the body, notably the liver and the brain (Anon, undated). It is an autosomal recessive condition in which the ATP7B gene on chromosome 13 (EASL, 2012) is defective. There are around 500 known mutations that can cause this defectivity (Tidy, 2014). The ATP7B gene codes for a copper-transporting P-type ATPase usually found in hepatocytes (Huster, 2010) (Roberts & Schilsky, 2008) that excretes excess copper into bile (EASL, 2012) (Roberts & Schilsky, 2008). When this gene is defective, it causes copper to build up in the liver which can be transported in the bloodstream to other organs such as the brain

These generations are classified as clinical, genetic, and epigenetic2,4,5. Throughout the clinical generation, lynch syndrome was described on the basis of scientific features and family history2,4,5. In the genetic generation, the development of identification for the DNA mismatch repair genes starting with Msh22. In this generation, LS was said to be cause by autosomal dominant mutations1-9 within the mismatch repair genes of Mlh1, Msh2, Msh6, and Pms2. Around 3,000 genetic differences within these four genes have been identified2. The final generation referred to stable modification in the gene expression that changes in a primary DNA

Based on those findings, Wilson performed an experiment on a person suffering from hypercholesterolemia (FH). This certain disease forbids the liver from processing cholesterol.