|Year : 2016 | Volume
| Issue : 2 | Page : 57-61
Wilson disease: A case study
Merlin Prasad1, Deena David2
1 III Year, B.Sc (N) Nursing Student, CON, CMC, Vellore, India
2 Reader, College of Nursing, CMC, Vellore, India
|Date of Web Publication||9-Jun-2020|
Source of Support: None, Conflict of Interest: None
Wilson disease, also called hepatolenticular degeneration is an autosomal recessive defect in cellular copper transport. A defect in biliary excretion leads to accumulation of copper in the liver, causing progressive liver injury and cirrhosis. The recommended initial treatment for symptomatic patients or those with active disease is administering chelating agents such as D-Penicillamine. The definitive treatment is liver transplant. This article focuses on the nursing care of a patient with Wilson disease and using the nursing process approach, a case study is presented.
Keywords: Wilson disease, hepatolenticular degeneration, accumulation of copper, chelating agents, liver transplant, nursing care
|How to cite this article:|
Prasad M, David D. Wilson disease: A case study. Indian J Cont Nsg Edn 2016;17:57-61
| Introduction|| |
Wilson disease is an autosomal recessive genetic disorder leading to accumulation of copper in tissues and liver. Symptoms appear between ages 5 and 35 years (Lewis, Dirksen, Heitkemper, & Bucher, 2014). Approximately one in 40,000 people have Wilson disease. It affects both men and women equally.
| Etiology|| |
Wilson’s disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in liver and brain. It is due to mutations of ATP7B gene on chromosome 13, which encodes a copper-transporting P-type ATPase residing in transgolgi network of hepatocytes. It can also be caused due to a failure of synthesise of ceruloplasmin or impairment in binding capacity of copper to it or both (Ferenci et al., 2007).
| Signs and Symptoms|| |
The clinical presentations of Wilson’s disease are liver and neuropsychiatric problems. Common manifestations of Wilson’s disease are jaundice, ascitis, hepatomegaly, edema and variceal bleeding. Chronic active hepatitis, culminating in cirrhosis is the most common hepatic presentation, but some patients present with fulminant liver failure. Girls are three times more likely to present with liver failure than boys. Younger patients present commonly with hepatic manifestations and older patients have more neurologic symptoms (Kliegman & Geme, 2015).
Typical neurological signs include tremor, rigidity, drooling, speech changes, incoordination, difficulty with fine motor tasks, and gait difficulties. Children may deteriorate in their school performance. Psychiatric manifestations include compulsive behavior, aggression, depression, impulsive behavior, and phobias. Other significant signs and symptoms also may be seen in patients with Wilson disease (see[Table 1].
| Pathophysiology|| |
Copper is an essential element for cellular function, yet free copper is extremely toxic and can produce irreversible cellular damage. To cope with this, elegant systems have evolved that bind the copper molecule to ensure safe transport of necessary copper to intended sites and safe elimination of excess copper through the biliary system.
Both the ATP7B protein and ceruloplasmin are involved with copper transport. The ATP7B protein normally resides in the trans-Golgi network in hepatocytes, where it mediates the incorporation of six copper molecules into apoceruloplasmin, forming ceruloplasmin. ATP7B protein transports excess copper across the hepatocyte apical membrane into the bile canaliculus for subsequent biliary excretion. In individuals with Wilson’s disease, mutation in the ATP7B gene results in defective ATP7B protein that cannot perform these functions. Consequently, copper progressively accumulates within the hepatocytes. As disease progresses, free copper levels increase resulting in copper toxicity and cellular damage (Rodriguez-Castro, Hevia- Urrutia, & Sturniolo, 2015).
| Staging|| |
The natural history of Wilson disease may be considered in 4 stages.
Stage 1 - Initial period of accumulation of copper within hepatic binding sites.
Stage 2 - The acute redistribution of copper within liver and subsequent release into circulation.
Stage 3 - Chronic accumulation of copper in the brain and other extrahepatic tissue, with progressive disease eventually leading to fatal symptoms
Stage 4 - Restoration of copper balance by use of long term chelation therapy
| Diagnosis|| |
The following investigation findings are specifically considered for diagnosing Wilson disease:
- Serum ceruloplasmin levels are less than 20mg/dl (reference range 20-40 mg/dl)
- Urinary copper excretion rate is greater than lOOmcg/day (reference range, <40 meg/day) in most patients
- Hepatic copper concentration of a liver biopsy specimen is >250mcg/g of dry weight(normal:15- 55mcg/g)
- Kayser-Fleischer rings in cornea, serum ceruloplasmin level <20mg/dl and 24 hour urine copper excretion >40mcg/day
| Management|| |
The goal of treatment is to reduce the amount of copper in the tissues. This is done by a procedure called chelation where certain medications that can bind to copper are administered to remove excess copper through gut and kidneys. Treatment must be continued lifelong.
1. The following medications may be used in the treatment:
- D- Penicillamine (Cuprimine, Depen) binds to copper and leads to increased release of copper in the urine.
- Trientine (Syprine) binds (chelates) the copper and increases its release through the urine.
- Zinc acetate (Galzin) blocks copper from being absorbed in the intestinal tract.
- Vitamin E supplements may also be used.
Sometimes, medications that chelate copper (especially penicillamine) can affect the function of the brain and nervous system (neurological function). Newer medications to reduce dietary copper intake to lmg/day are under trial that may bind copper without affecting the neurological function of the patients.
2. A low-copper diet may also be recommended to reduce dietary copper intake to 1 mg/day. Foods that are generally avoided include:
- Dried fruit
As copper content may be high in drinking water demineralized water can be suggested (Kliegman & Geme, 2015)
3. Surgical decompression or transjugular intrahepatic shunting is reserved for recurrent or uncontrolled variceal bleeding.
When the drug therapy is not successful in reducing the high amounts of copper in the body, surgical management with a liver transplant may be required for those with very advanced disease. Liver transplantation is very effective in the treatment of patients with advanced liver disease caused by Wilson’s disease. If a transplant is the best treatment option, the care team will focus on preventing complications and treating symptoms while waiting for a donated liver.
Untreated Wilson disease is universally fatal, with most patients dying from liver disease and a minority from complications of progressive neurologic disease. With chelation treatment and liver transplantation, prolonged survival has become the norm. A score greater than 11 as per the prognostic index given by EASL clinical guidelines is always fatal without liver transplantation (see [Table 2]. Patients presenting with neurologic symptoms fare better with respect to life expectancy, especially if liver disease is limited (European Association for the Study of the Liver, 2012).
| Case Report|| |
An 8 year old male child got admitted to the paediatric medical ward with complaints of abdominal distention and jaundice, one episode of hematemesis, productive cough and low grade intermittent fever. On admission child was conscious but looked icteric and had pedal edema.
History revealed that the child was diagnosed with Wilson disease in December 2015. He was started on Tab. Penicillamine 250mg BD. Birth history revealed that he is the second child of a non-consanguineous marriage, born at term by normal vaginal delivery. His birth weight was 2.8kg. Child had suffered from neonatal jaundice on day 3 of life, which settled with phototherapy.
During the period of current hospitalization child was conscious and oriented. He was on Oxygen therapy at 2/L min via nasal prongs. Physical examination revealed that child had diminished air entry in the left side of the chest. Abdominal distention and fluid thrill suggested ascitis. A biochemical assay revealed the following findings:
- INR-25.1 sec
- APTT - 78 sec
- Serum total bilirubin-6.2 mg/dl
- Albumin-2. lg/dl
- Potassium-3. l.Meq/L
- Serum Ceruloplasmin-0.165 mg/dl
Urine examination revealed that child had urine copper of 745 ug/dl over 24 hours. Chest X-ray showed left sided pleural effusion. Ultrasound abdomen revealed early chronic liver disease, hepatomegaly and splenomegaly. Opthalmoscopy showed presence of Kayser-Fleischer rings.
Child was treated with Inj. Ampicillin 250 mg Q6H, Inj. Cephataxim 750 mg Q8H, Inj. Augmentin lgm IV Q8H for infection. Tab. Penicillamine 250mg bd was continued for chelation. Vitamin supplements and Zinc supplementation was initiated. Child was also on Inj. Lasix and Inj. Albumin as infusions. Fresh frozen plasma transfusion was administered twice during the hospital stay. Child was kept fluid and copper restricted diet.
The nursing care is discussed elaborately using nursing process approach (Gulanick & Myers, 2010)
| Nursing Care|| |
1. Nursing Diagnosis: Impaired breathing pattern related to compression of diaphragm secondary to ascites
Expected Outcome: Child’s breathing pattern is effectively maintained as evidenced by normal respiratory rate, depth and absence of use of accessory muscles for respiration.
- Assessed the childs’s respiratory rate, rhythm, depth, Sa0, use of accessory muscles for breathing. The child’s respiratory rate was 40/min, saturation was 92/min, auscultation revealed decreased air entry in the left side of the lungs, and chest X-ray revealed left pleural effusion
- Assessed the child for precipitating factors and identified the child to have abdominal distention which was the major cause for the breathing difficulty
- Positioned him in semi-Fowler’s with supportive devices such as pillows inorder to facilitate better lung expansion
- Administered Oxygen 2L/min via nasal prongs inorder to prevent hypoxia and hypoxemia
- Taught the child deep breathing exercises
Evaluation: Child’s breathing pattern was effectively maintained as evidenced by improvement in the saturation to 98% and decrease in the respiratory rate. Child remained comfortable after interventions.
2. Nursing Diagnosis: Fluid volume excess related to cellular swelling secondary to liver disease and hypotonic over hydration
Expected Outcome: Child maintains adequate fluid volume as evidenced by resolution of edema and ascites.
- Assessed the child’s daily weight, abdominal girth, intake and output, breath sounds, blood pressure, respiratory rate and edema and identified the child to have pedal edema, negative fluid balance, crackles, fluid thrill, tachycardia and diminished air entry
- Assessed the diet pattern and restricted fluids to prevent overload and edema
- Administered diuretics Inj. Lasix as infusion as 1 mg/ml/hour to promote excretion of excess fluids
- Administered Inj. Albumin as prescribed to prevent edema
- Elevated edematous extremities to promote venous return to heart and thereby to prevent edema
- Taught importance of fluid restriction to prevent further fluid overload
Evaluation: Child’s status had not improved; edema and ascities did not reduce during the period of hospital stay.
3. Nursing Diagnosis: Fatigue related to anemia
Expected Outcome: Child remains energetic and verbalizes having sufficient energy to complete desired activities. Anaemia is corrected.
- Assessed child’s energy levels, Hemoglobin, ability to perform ADL, calorie intake, and fluid balance. Identified haemoglobin level of 9.8 gm/dL, negative fluid balance and decreased ability to perform activities of daily living
- Administered iron supplements and taught on iron rich diet and vitamin C rich diet to improve the hemoglobin levels
- Taught the child energy conservation techniques and assisted in performance of activities of daily living
- Assisted the family to plan for a high calorie nutritive diet with fluid, sodium and potassium restriction
Evaluation: Child demonstrated sufficient energy to perform desired ADL.
4. Nursing Diagnosis: Ineffective coping related to life threatening condition
Expected Outcome: Family coping is improved as evidenced by composure and positivity
- Assessed level of fear and precipitating factors to plan for counseling session
- Explained to the family about the disease condition, treatment and prognosis in simple terms in their own language
- Provided spiritual support by praying for the child and family
- Identified the strengths and coping mechanisms of the family and strengthened their coping behavior.
- Involved the family in the care of their child to promote bonding with the child and also to promote a sense of satisfaction
Evaluation: Parents appeared to be coping with the nature of child’s illness.
5. Nursing Diagnosis: Readiness for enhanced knowledge regarding diet therapy and management of disease condition related to lack of information
Expected Outcome: Learning needs of the parents are met as evidenced by verbalization and clarification of doubts.
- Assessed level of knowledge of the parents inorder to plan for teaching sessions
- Assessed the learning style of the parents and provided a conducive environment to learn and understand the disease process
- Explained about disease condition, treatment and prognosis and cleared doubts in own language
- Taught the family regarding diet therapy (copper and fluid restricted), adherence to treatment and regular follow up
- Offered positive reinforcement to the family for their effort in caring for the child ; encouraged and supported them to continue the care in the same manner in the home setting as well
Evaluation: Parents’ learning needs were met as evidenced by her ability to answer questions regarding care giving and their confidence in caring for the child.
Child’s parents were informed of the prognosis of the disease process and the treatment plans. They were counseled on the importance of liver transplantation for the child. The family decided to take the child for further treatment to another institution and therefore obtained discharge on request.
| Conclusion|| |
Wilsons disease if not treated becomes fatal. Some symptoms may improve with treatment while others may remain permanently. Patients with prognostic score of 11 or greater would be considered for liver transplantation. Prognosis after liver transplantation is relatively good. Compassionate and competent nursing care may aid in alleviating the symptoms and preventing disability.
Conflicts of Interest: The authors have declared no conflicts ofinterest.
| References|| |
European Association for the Study of the Liver. (2012). EASL clinical practice guidelines: Wilson’s disease. Journal of Hepatology
, 56(3), 671-685.
Ferenci, P., Czlonkowska, A., Merle, U., Ferenc, S.. Gromadzka, G, Yurdaydin, C., … & Stremmel, W. (2007). Late-onset Wilson’s disease. Gastroenterology
, 752(4), 1294-1298. http://dx.doi.Org/10.1053/j.gastrc .2007.02.057
Gulanick, M., & Myers, J. L. (2010). Nursing care plans: Diagnoses, interventions, and outcomes
. St. Loius: Elsevier Health Sciences.
Kliegman, R, Stanton, B., & Geme, J. (2015). Nelson textbook of pediatrics
(20th ed.). St. Louis: Elsevier.
Lewis, S. L., Dirksen, S. R., Heitkemper, M. M., & Bucher, L. (2014). Medical-surgical nursing: assessment ana management of clinical problems
. Philadelphia: Elsevier Health Sciences.
Roberts, E. A., & Schilsky, M. L. (2008). Diagnosis and treatment of Wilson disease: An update. Hepatology
Rodriguez-Castro, K. I., Hevia-Urrutia, F. J., & Sturniolo, G. C. (2015). Wilson’s disease: A review of what we have learned. World Journal of Hepatology
, 7(29), 2859. doi: 10.4254/wjh.v7.i29.2859
[Table 1], [Table 2]