It is a rare autosomal recessive disorder characterized by deposition of copper in the liver, brain and other organs due to increase absorption and decreased excretion of copper by the liver. The Name Wilson’s disease come from the British neurologist Samuel Alexander Kinnier Wilson in 1912 who first described this condition.

What causes the Wilson’s disease?

It is caused due to genetic mutations in the ATP7B gene located on 13q14-q21 . ATP7B gene encodes a copper-transporting P-type adenosine triphosphatase involved in the transport of copper into the ceruloplasmin and excretion of copper from the liver. Defects on ATP7B lead to copper deposition in the liver ,brain and other organs of the body.

What is the signs and symptoms of Wilson’s disease?

Patients develop signs and symptoms of acute hepatitis , chronic hepatitis , cirrhosis, neurological disease ,eyes disease and hematological disease in general , which includes:

1. Jaundice
2. Abdominal distension
3. Bruising
4. Gastrointestinal bleeding
5. Fatigue
6. Difficulty in speaking
7. Excessive salivation
8. Mask like face
9. Ataxia
10. Personality changes
11. Seizure , rigidity
12. Depression, anxiety ,psychosis
13. Anemia
14. Osteoporosis
15. arthritis
16. Arrhythmia
17. Edema
18. Infertility
19. Abortion
20. Coma
21. Kayser-Fleischer rings (KF rings) in the eyes is formed by the deposition of copper in the cornea. KF rings are present in 90% of individual who have the symptoms of Wilson disease.
22. Hepatomegaly and splenomegaly ( enlarged liver and spleen size)
23. Signs and symptoms of Renal tubular acidosis

How is Wilson’s disease diagnosed ?

Diagnosis relies on clinical presentation , laboratory tests, radiological imaging and liver biopsy.

Laboratory tests shows:

1. Serum ceruloplasmin level less than 20 mg/dL( normal 20-40mg/dL)
2. 24 hour urinary copper excretion rate is greater then 100 mg per day (normal less than 40mg/dL)
3. Liver biopsy shows more than 250mcg/g of copper level.
4. Anemia
5. Genetic tests shows more than 200 mutations of ATP7B gene.

Radiological imaging includes CT and MRI shows basal ganglia degeneration and front-temporal, cerebellar and brain stem atrophy. Positron emission tomography shows reduced regional cerebral metabolic rate of glucose consumption in the stratum, cerebellum , thalamus and cortex.

How is Wilson’s disease managed ?

1. Reduced dietary copper intake likes mushrooms, chocolate, nuts ,liver, legumes .
2. Pharmacological treatment with copper cheating agents, d-penicillamine which release copper from the organs . Ammonia tetrathiomolybdate is new drugs approved by the US food and drug administration . Zinc salts can help to reduced the absorption of copper form intestine .
3. Surgery which include orthotopic liver transplantation is a curative treatment and reserved for the patients with fulminate liver failure , unresponsive with chelating agents and end stage liver cirrhosis .

What is the prognosis of Wilson’s disease?

Prognosis depends upon the severity of the disease.

References:

1. emedicine.medscape.com
2. digestive.niddk.nih.gov
3. www.labtestsonline.org
4. en.wikipedia.org
5. www.sciencedirect.com
6. Harrison’s Principles of Internal Medicine, 17th edition.

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The 10^th leading cause of death in the world wide is the chronic irreversible liver damage, characterized by replacement of normal liver tissue by fibrosis, scar tissue and regeneration of noramal liver tissue form nodules or lump in the liver leading to progressive loss of normal liver function.

Causes:

• Alcohol abuse
• Chronic hepatitis B ,C and D
• Fatty liver
• Cystic fibrosis
• Glycogen storage disease
• Alpha 1  antitrypsin deficiency deficiency
• Chronic Bile Duct Blockage
• Wilson’s Disease and Hemochromatosis
• Drugs and Toxins
• Autoimmune Hepatitis

Pathology :

The pathology of cirrhosis is formation of scar tissue that replaces normal liver parenchyma and blocking the portal blood flow. During scar formation normal parenchyma is damages that lead to activation of the stellate cell, formation of contractile myofroblast and obstructs blood flow. Additionally in cirrhosis there is disturbs the balance between matrix metalloproteinase and its inhibitors (TIMP 1 and 2) cause matrix breakdown and replacement by connective tissue-secreted matrix.

Finally entire liver is replaced by scar tissue.

Sign and symptoms:

1. Alopecia( hair loss)\
2. The person may experience fatigue, weakness, and exhaustion. Loss of appetite is usual, often with nausea and weight loss.
3. Palmer erythema (Red palm)
4. Muscle wasting
5. Spidernavie ( Spider like blood vessels appear in the skin)
6. Parotid gland enlargement
7. Enlarge Men breasts( gynecomastia) and Testicular atrophy( shrunken testes)
8. Spleen enlarges
9. Fluid accumulate in the abdomen (ascite)

Diagnosis:

Diagnosis relies on history, physical examination, blood tests, ultrasound and CT scan and if still unable to diagnose Liver biopsy is needed.

Complication:

• Portal hypertension and its consequence
• Bleeding problem
• Hepatic encephalopathy
• Kidney failure
• Diabetes
• Increased risk of infections
• Liver cancer

Treatment:

There is no cure for this disease but treatment of symptoms and sings and minimize the damage to liver cells and reduces complications.

1. Stop alcohol for alcoholic patient
2. Restricting salt and water
3. not to use unnecessary drugs
4. Use of diuretic
5. Decreasing dietary protein and using of laxatives
6. Antiviral drugs Like interferon
7. Steroid for autoimmune disease
8. Management of bleeding varices by injected sclerosing agents, banding, occasionally TIPPS and surgery is necessary to prevent bleeding.
9. Liver transplant is the standard treatment of selected patient.

Prognosis:

Cirrhosis is usually progressive even with medication and abstinence for alcohol can prolonged the life but who are having difficult abstaining alcohol, ascite and encephalopathy are dramatically impact a patient prognosis.

Conclusion:

Liver cirrhosis is a common problem world wide. Early diagnosis can be done to prevent complications .various treatment is available but there is no cure.

Ongoing medical research promise major advance in treating this disease in near future.

Reference:

1. gicare.com
2. ehow.com
3. digestive.niddk.nih.gov
4. medicinenet.com
5. webmd.com
6. www.merck.com
7. healthscout.com
8. en.wikipedia.org

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what is the cause of intestinal wall edema in patient with liver cirrhosis???

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A  65 years old man came to out patient department  complaining of  abdominal distension and pain at right hypochondriac  region .  On examination spleen was palpable 2 cm below the left costal margin , skin was flushed , tachycardia and  low blood pressure (90/60). After further examination he was diagnosed as liver cirrhosis but the cause was not found.

In this patient what is the cause behind tachycardia and low blood pressure?

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