ABSTRACT:

Wilson's disease is an inherited autosomal recessive disorder of copper metabolism. Normally copper homeostasis is controlled by the balance between intestinal absorption of dietary copper and hepatic excretion of excess copper in bile. In Wilson's disease, hepatic copper is neither excreted in bile nor incorporated into ceruloplasmin and copper accumulates to toxic levels into various tissues of the body. Although the accumulation of copper begins at birth, symptoms of the disorder appear later in life, between the ages of 6 to 70 years. Wilson’s disease is generally fatal, usually by the age of 30 years if not treated properly. With early treatment, symptomatic recovery is usually complete, and a normal life expectancy is expected. The purpose of this article is to determine the role of dentist in early diagnosis and comprehensive dental management of the same.

Key words: Wilson’s disease, Copper, Metabolism, Dental, Management.

INTRODCUTION :

Wilson’s disease (WD) is an inherited autosomal recessive copper accumulation disorder that affects about 30 individuals per million1. It is also seen more in the people with some blood discrasias2. The disease is caused by the dysfunction of a liver enzyme or protein that transports copper (copper-transporting P-type ATPase) which has an important role in copper elimination from the body by excretion into bile.3,4,5 The gene encoding this protein, is located on the chromosome 13 (13q14.3) and is called as ATP 7B. There are various gene mutations that impair the protein’s function,6, 7 leading to copper accumulation mainly in the liver, but also in the brain, eye (cornea), kidney and sometimes in oral mucosa.
The aim of this case report is to enhance the knowledge about the disorder and thus prompt us for early detection and to take proper precautionary measures while providing comprehensive dental treatment for the patients with WD.
CASE REPORT:
A 14 years old male patient reported to the Department with a chief complain of broken teeth. He gave a history of trauma in upper front region 1 week back. On general examination it was noticed that ear lobes were everted (Fig 1) and the cornea also showed classical Kayser-Fleischer rings.(Fig 2). On intra oral examination it was found that the patient had Ellis class II fracture with 11 and 21 and it was confirmed by pulp vitality tests. Also there were some carious teeth in the oral cavity.(Fig 3) Soft tissue examination revealed generalized diffuse brownish patches on the oral mucosa and the lips also showed similar findings.(Fig 3). As patient showed above findings we decided to take medical consent for the same and it was found that the patient suffered from Wilson’s disease. Treatment planned was oral prophylaxis followed by esthetic rehabilitation of these teeth. After taking patient’s parent consent oral prophylaxis was completed followed by pit and fissure sealant with the permanent molars. Then upper central incisors were restored by composite restoration (Fig 4) Patient was recalled after every 6 months for follow up.

DISCUSSION:
Patients with WD are diagnosed between the first and the fourth decade of life,8 Although the age at presentation can vary from 3 to 70years.9 The main clinical features of WD include hepatic, neurologic and psychiatric signs and symptoms. 1. Liver involvement may show hepatomegaly, fatty liver, and acute hepatitis (40% of cases) with elevated serum transaminase levels, liver failure, jaundice, cirrhosis, and liver cancer. During acute liver failure, hemolysis can also occur.
2. Neurologic disturbances are usually seen in the third decade of life.10Typical symptoms are hypokinetic or difficult speech, tremor, dystonia, incoordination and difficulty in swallowing (dysphagia).
3. Before the hepatic or neurologic manifestations, up to 5 years, patients can develop psychiatric and behavioral abnormalities, such as depression (sometimes leading to attempted suicide), paranoia, hallucinations and delusions, irritability, reduced sexual inhibition, and reduced performance at school or at work.11 Behavioral and cognitive symptoms can be reversed by 1–2 years of continuous treatment.12
4. Heart, kidney, bones and hormonal glands are also affected in WD and changes in the metabolism of calcium are seen (hypoparathyroidism) along with menstrual problems13,14 Renal features include kidney stones (nephrolithiasis) and loss of small proteins in the urine (aminoaciduria).15 Cardiac features include weakness of the heart muscle (cardiomiopathy) and abnormal rhythm (dysrhythmias).16Skeletal features include arthritis and premature bone loss (osteoporosis).17
When can you suspect the Wilson’s disease?•

Unexplained liver disease: abnormal liver enzyme levels (ALT, AST), hepatomegaly, or features of chronic liver disease.
• Unexplained neurologic and/or psychiatric disease.
• Family history: first-degree relative diagnosed with WD17,18. How vigilant should we be?
• Always have a keen observation and high index of suspicion which can be diagnosed in all age groups
• There is no gold standard for diagnosis, which is based on a combination of clinical and laboratory findings
• The key findings are
- urinary copper levels >100 µg/24h
- hepatic copper levels >250 µg/g d.w.
- ceruloplasmin levels < 20 mg/dl
- Kayser-Fleischer rings around the cornea18,19,20 General Treatment of Wilson’s disease
• Therapy should be started as soon as possible.
• Initial treatment of symptomatic patients who have only hepatic involvement should include a chelating agent (D-Penicillamine or trientine)
• Zinc salts can be used for the treatment of presymptomatic patients or maintenance therapy of patients with mainly hepatic involvement.
• Patients with mainly neuro-psychiatric involvement should be treated from the beginning with zinc, and never with D-Penicillamine
• Liver transplantation is the ultimate treatment for Wilson’s disease, when all medical therapies options fail, but neuro-psychiatric disease as the main clinical symptom is a contraindication to orthotopic liver transplantation.
• These patients must guard the daily intake of copper not to exceed 2mg/day.
• Restriction of copper containing diet should be advised. 18,19,20

DENTAL CONSIDERATIONS:
The basic dental considerations are as follows: 1. Thorough general examination is the key for prompt diagnosis.
2. The abnormal behavior of the child should be noted. Care must be taken for any behavioral problems during the treatment.
3. The patient may show difficulty in swallowing and speech due to abnormal muscle co-ordination. Emergency equipments as well as the physical restrains should be kept ready to prevent any untoward event.
4. Medical consent should be obtained before commencing any dental treatment in these children.
5. Regarding the dental treatment, dental materials containing copper should not be used in these patients (e.g. copper containing -amalgam, gold alloys, metal ceramics, zinc phosphate) 6,7,11,15
CONCLUSION:

Keen observation during the general examination of patient would prove beneficial for the early diagnosis of the rare disease like Wilson’s disease. This would surely help in early intervention of treatment and improvement in the living of the patient. Finally we conclude that such children are manageable in the dental clinic if prior consent and all the necessary precautionary measures are taken.

REFERENCES:

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13. Carpenter TO et al. Hypoparathyroidism in Wilson’s disease. N Engl J Med 1983; 309: 873-77
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16. Hlubocka Z et al. Cardiac involvement in Wilson disease. J Inherit Metab Dis 2002; 25: 269-77
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Fig.1 Photograph showing everted ear lobe.	Fig.2 Photograph showing Kayser-Fleischer rings in the cornea.

Fig.3 Photograph showing, brownish patches on oral mucosa and lips and Ellis class II fracture with 11 & 21	Fig.4 Post operative photograph showing composite restoration with 11, 21.

Dr. Shivayogi M. Hugar Asst. Professor Department of Pedodontics & Prevetnive Dentistry KLE VK Institute of Dental Sciences, Belgaum, Karnataka.	Dr. Sudha Patil Asst. Professor Department of Pedodontics & Prevetnive Dentistry KLE VK Institute of Dental Sciences, Belgaum, Karnataka.

Dr. Vanita P. More Post graduate student Department of Pedodontics & Prevetnive Dentistry KLE VK Institute of Dental Sciences, Belgaum, Karnataka.	4. Dr. Shankargouda Patil Asst. Professor Department of Oral Pathology & Microbiology KLE Institute of Dental Sciences, Banglore, Karnataka.