Wilson’s disease is a well-known leading cause of chronic liver disease in children. However it may remain undiagnosed in a resource limited setting for a long period. We describe a six year male child diagnosed Wilson’s disease with extreme elevation of liver enzymes which is not reported earlier. The diagnosis was also baffling because of inconsistency of other laboratory parameters.
Introduction
Wilson disease is one of the common metabolic liver disorders prevailing worldwide. The diagnosis is always difficult in children [1]. It is also a chronic liver disease for which effective therapy is available therefore, early diagnosis is crucial. However because of its varied range of clinical manifestation, at times the diagnosis is clinically challenging. Early
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The diagnosis is further complicated when investigations does not support the condition.
Patient and observation
A six year male child presented with chief complaints of yellow discoloration of eyes and associated history of passing high coloured urine for three months. It was associated with nausea, diffuse abdominal pain and decreased appetite. There was no history of irritability, change in behaviour or altered sleep pattern and no bleeding from any site. He had not received blood transfusion any time in the past. There was no similar illness any of the family members. The child was admitted to a private institution for a two week period, but as there was no improvement, he was referred to our institute. At admission, he was afebrile and vitals were stable. General physical examination revealed mild pallor and severe jaundice. Gastrointestinal systemic examination revealed moderate hepatomegaly along with an enlarged left lobe of liver. There were no other clinical features suggestive of chronic liver disease. Investigations revealed a total serum bilirubin of 15.6mg/dl with conjugated fraction of 13.40mg/dl.
A 20-year old male presented to the hospital with: nausea; diarrhoea and fever. Upon examination he had abdominal pain and a tender liver. The patient admitted to eating wild mushrooms, of which he had collected himself, the afternoon before attending the hospital. Laboratory analysis at the time of admission revealed elevated serum ALT (665 U/L) and AST (880 U/L), increased total bilirubin (4.9mg/dL) and an increased prothrombin time (3.11 seconds). Laboratory tests were repeated six hours later and all levels, except AST, were elevated even further; with ALT and bilirubin doubling in concentration and the prothrombin time also doubling. Albumin concentration was also tested and presented normal at both times. The patient was administered a haemodialysis with N-acetylcysteine.
Symptoms - Enlarged Spleen, Enlarged liver, Loss Of Muscle Tone, Difficult Moving Limbs, seizures,delayed motor development beginning before age 2
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.
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:
Secondly, patients with Wilson’s disease have decreased levels of ceruloplasmin. This disrupts the iron homeostasis which results in the accumulation of both iron and copper in the liver. This information is important with diagnosing the disease. Another disease, such as hemochromatosis also exhibit high levels of iron in the body. With this knowledge, when diagnosing patients, physicians should test for both diseases to avoid wrong medical
This case study is about Abdul Chidiac, a 51 year old male, married with 4 children. He had a medical history of hypertension, hypercholesterolaemia and cirrhosis with two admissions in the last six months. He is a smoker and drinks beer, 5-6 bottles per day. As Carithers & McClain (2010) explained the patient’s medical history is another indicator of the risk for cirrhosis; the progression to cirrhosis is adaptable and may take time over weeks or many years. Cirrhosis is a liver disease characterized by permanent scarring of the
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,
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.
The general health of the patient is currently being compromised due to present illness mentioned above, but is stable. L.H. reports his usual health to be, “normal and not too crazy like this”. Patient has some fatigue noted while conducting daily activities; No recent weight change, fever or sweat. The skin noted to some discoloration on upper right side of back. There is no pruritus, rash or lesions present. Bruises noted bilateral on arms. Patient reported taking baby aspirin as daily medication. His hair is greying and thinning with no hair loss.
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.
Newborn jaundice is a condition marked by high levels of bilirubin in the blood. The increased bilirubin causes the infant's skin and whites of the eyes (sclera) to look yellow.
Additionally, many chronic liver diseases can lead to cirrhosis. For example, nonalcoholic fatty liver disease (NAFLD) can lead to cirrhosis and is associated with obesity, hyperlipidemia, metabolic syndrome and type 2 diabetes mellitus. Hereditary metabolic disorders such as hemochromatosis and Wilson disease can also lead to cirrhosis (McCance & Heuther, 2014). It seems the cause of cirrhosis is multifaceted. Additionally, many diseases can lead to cirrhosis and it is understandable why the etiology of cirrhosis has not been parsed out, especially because the cause can differ from a
One of these symptoms is jaundice, which is characterized by yellowish skin and eyes because of an inability of the liver to remove bilirubin from the blood. Patient with cirrhosis also suffering from itching, due to deposited bile's products in the skin. This patient also suffers from accumulation of fluid in legs that is called edema. As a result of the blockage of blood flow via the liver, fluid accumulation in abdomen which is worsen by the decrease in protein production. Other symptoms include fatigue, weakness, loss of appetite, weight loss and nausea. As the disease progress, complications may develop ,such as varices that happens with cirrhosis patient when the blood flow through the liver slows, so the blood from intestine go back to the vessels of the stomach and esophagus, these vessels are not meant to carry this much of blood so they dilate (varices), with increasing
Based on those findings, Wilson performed an experiment on a person suffering from hypercholesterolemia (FH). This certain disease forbids the liver from processing cholesterol.