Journal of Otology & RhinologyISSN: 2324-8785

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Case Report, J Otol Rhinol Vol: 5 Issue: 6

Wilsons disease -A Rare Entity: Case Report and Review of Literature

Vaishnavi D*, Yamsani B and Damera S
Department of Oral and Maxillofacial Surgery, Klr Lenora Institute of Dental Sciences, Rajamahendravaram, Andhra Pradesh, India
Corresponding author : Vaishnavi D
Department of Oral and Maxillofacial Surgery, Klr Lenora Institute of Dental Sciences, Rajamahendravaram, Andhra Pradesh, India
Tel:
+91-9948325066
E-mail: [email protected]
Received: July 20, 2016 Accepted: August 11, 2016 Published: August 18, 2016
Citation: Vaishnavi D, Yamsani B, Damera S (2016) Wilson’s disease -A Rare Entity: Case Report and Review of Literature. J Otol Rhinol 5:5. doi: 10.4172/2324-8785.1000295

Abstract

Wilson’s disease is described by kinnier Wilson in 1912. It is a rare condition where there is increase in copper levels in the body. There is also copper deposition in various organs of the body. Copper forms an integral part of various enzymes. It also helps in functioning of central nervous system, synthesis of melanin and plays key role in the metabolism of iron. The excess copper accumulation in the body gives rise to various symptoms such as K-F Rings in eyes. In acute stages, there is copper accumulation in the liver. Liver plays an important role in metabolism of drugs and synthesis of coagulation factors. Bleeding tendency is common in patients with liver disease. Here we present a rare case of Wilson’s disease and dental considerations involving it

Keywords: Wilsons disease; Oral and maxillofacial surgery

Keywords

Wilsons disease; Oral and maxillofacial surgery

Introduction

Wilson’s disease is a rare autosomal recessive genetic disorder of copper metabolism. The disease is first described as asyndromely Kinnier Wilson in 1912. Wilson’s disease is the disorder in which copper pathologically accumulates in the liver.
The prevalence of this disease in 30 per 1 million population [1]. The gene ATP7B is responsible for Wilsons disease is present on chromosome 13. Defective ATP7B function results in hepatic copper accumulation, which results in hematic and neurological manifestations of Wilsons disease [1,2].
Copper is an essential trace element that acts as a co factor for variety of enzymatic reactions. It is an integral part of amine oxidases, cytochrome-C oxidase and superoxide dismutase and dopamine hydroxylase. Approximately 50% of the ingested copper is absorbed in upper part of small intestine. It is transported in circulation as copperalbumin. This copper is exacted by hepatocytes where it is utilized for cellular metabolism, exported back into circulation in the form of copper contain celluloplasmin or excreted into bile. Approximately 90% of serum copper is bound to cerruloplasmin in adults. ATP7B is a membrane bound copper transporting ATPase. The deficiency of ATP7B protein impairs biliary copper excretion resulting in hepatic copper accumulation. As the disease progresses, copper levels increases, resulting in copper build up in other parts of the body, such as brain, eyes resulting in neurological, opthomological, psychiatric problems [3-5].
Patients with liver disease are prime importance to dentists because liver produces coagulation factors, many drugs metabolise in the liver and other metabolic functions.

Case report

A 21 year old male patient (Figure 1) presented to the department of Oral and Maxillofacial surgery with a chief complaint of decayed teeth in the upper third molar. Patient medical history revealed that he is under medication for the treatment of Wilson’s disease. Being a rare disease curiosity prevailed and the patient was advised radio graphical investigations as there was no pain, the patient was advised to report after four days.
Figure 1: 21 year old male patient.
Literature shows the disease is rare origin and dental management of patients of such disease included in very few journals. On general examination the patient was weak. Examination of eyes showed KF rings (Figure 2) confirming the clinical diagnosis.
Figure 2: Eyes showed KF rings.
The blood investigations were advised. Serum cerruloplasmin levels are low (Figure 3) and atomic absorption spectrometry showed high copper levels in urine analysis (Figure 4). Since the disease involved the liver, all liver function tests were advised. The liver function tests were under normal limits. The drug history revealed that the patient is on pencilamines and zinc since one year.
Figure 3: Serum ceruloplasmin levels.
Figure 4: Urine analysis.

Discussion

Wilson’s disease is a genetic disorder of copper metabolism. Most sumptons appear in the second and third decade of life. The disease is progressive, can remain undiagnosed and become fatal if untreated.
The clinical manifestation of Wilson’s disease include
Liver-The features of chronic hepatitis and cirrhosis are present. Clinical features include spider naevi, splenomegaly and portal hypertension. All young patients with chronic liver disease should be suspected for Wilson’s disease.
Eye-Opthalmic findings include Kayser-Fleischer rings (K-F rings). K-F rings are present at the periphery of the cornea. They are caused by the granular deposition of copper on the inner surface of the cornea in Descemets membrane. The rings have a golden brown appearance visible to naked eye [6].
Neurologic-the neurological findings include mild tremor, motor in coordination, migrane, headaches, insomnia [7-9]. Severe form of akinetic –rigid syndrome is similar to Parkinson’s disease, ataxia and adystonia syndrome [10].
Psychiatric manifestations include depression, anxiety and frank psychosis [11,12].
There is no proper test for diagnosis of Wilson’s disease. Assessment should include history, physical examination, liver function tests, full blood count, serum copper, and cerruloplasmin, Kayser –Fleischer ring examination. Liver biopsy shows the best evidence of copper concentration.
The treatment of Wilson’s disease is based on the use of copper chelators to promote copper excretion from body or zinc to reduce copper absorption or both.
Penicillamine has been the treatment of choice with initial dose 1000-1500mg per day in 2-4 divided doses. Penicillamin enhance urinary copper excretion and sequestration of free intracellular copper [13].
Trientine is another alternative to penicillamine. It has a polyamine structure which chelates copper by formation of stable complexes [14]. Ammonium tetrathio molybate is another drug when taken with meals forms complexes with copper in food and secreted in intestine thus preventing absorption [15].
Zinc induces intestinal metallothyonine which binds to copper within the duodenal enterocyte. Copper absorption into circulation is reduced and copper is lost when the enterocyte is shed during normal cell turnover. The dose is 150ng per day in three divided doses [16]. Liver transplantation is indicated for patients with acute fulminant hepatic failure form Wilson’s disease [17].
Dental considerations
The main functions of liver are metabolism breakdown and excretion of drugs and endogenous products. Liver diseases can have many effects including bleeding tendency and impaired drug and metabolite degradative and excretory activities [18].
Close co-operation is needed between the physician and dentist to plan safe comprehensive dental care. Local anesthetic injections and surgeries can be followed by persistent bleeding.
Laboratory evaluation before any surgical procedures should be directed. Various tests such as complete blood count, coagulation studies, liver function tests and kidney function tests should be carried out.
Local anesthetic regional blocks, lingual infiltration into the floor must be avoided. Conservative dentistry treatment may be carried out without local anesthesia. If not feasible, papillary or intra ligamentary injections and infiltrations can be used. Alternative techniques such as electronic dental anesthesia may also be effective.
Periodontal surgeries necessitate local anesthesia and factor VIII replacement.
Extraction and dent alveolar surgery should be carefully planned. Surgeries should be carried out with minimal trauma to both bone and soft tissues. Suturing is desirable to stabilize the flaps. A no traumatic needle with minimum number of sutures must be used.
When mucoperiosteal flaps are raised lingual tissue in the lower molar region should be preferably left undisturbed since trauma may open up planes into which hemorrhage can track and endanger airway. The buccal approach to the third molars is safer (Figure 5).
Figure 5: Buccal approach to the third molars.
The extraction sockets are packed with oxidized cellulose soaked in Tranexamic acid or collagen or cyanoacrylates or fibrin glue can be used. Fibrin sealants consist of fibrinogen and thrombin provides rapid hemostasis, tissue sealing and adhesion.
Post operatively a diet of cold liquid and minced solids should be taken upto 5-10 days. Care should be taken to watch hematoma formation which may manifest as swelling, dysphagia or hoarseness.
Complete proper planning results in a safe and successful outcome in treating patients with Wilson’s disease.

Conclusion

There are many rare diseases in the world, not all symptoms are known by any individual. When we come across such rare disease, it is important to identify and understand the clinical manifestations and complications pertaining to the disease. A thorough history, proper diagnosis, investigations and treatment plan is most necessary to deliver a safe dental treatment.

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