Wilson’s disease
INTRODUCTION:
- Wilson’s disease is a rare genetic condition that causes copper poisoning in the body.
- The symptoms of Wilson’s disease vary depending on which organ has copper buildup.
- Early diagnosis and treatment offer the best outlook for people with Wilson’s disease.
- Siblings of the diagnosed patient with Wilson disease will be having 25% risk of Wilson disease
ETIOLOGY:
- A mutation in the ATP7B gene, which codes for copper transportation, causes Wilson’s disease.
- It is autosomal rececieve trait
SIGNS & SYMPTOMS:
- Liver-related
The following symptoms may indicate copper accumulation in the liver:
- Weakness
- Feeling tired
- Weight loss
- Nausea
- Vomiting
- Loss of appetite
- Itching
- Jaundice, or yellowing of the skin
- Edema, or the swelling of legs and abdomen
- Pain or bloating in the abdomen
- Spider angiomas, or visible branch-like blood vessels on the skin
- Muscle cramps
Neurological
Copper accumulation in the brain can cause symptoms such as:
- Memory, speech, or vision impairment
- Abnormal walking
- Migraines
- Drooling
- Insomnia
- Clumsiness with hands
- Personality changes
- Changes in mood
- Depression
- Problems in school
Kayser-Fleischer rings and sunflower cataract
- Kayser-Fleischer (K-F) rings are abnormal golden-brown discolorations in the eyes that are caused by deposits of excess copper.
- K-F rings show up in about 97 percent of people with Wilson’s disease.
- Sunflower cataracts show up in 1 out of 5 people with Wilson’s disease.
- This is a distinctive multicolored center with spokes that radiate outward.
Other symptoms
The buildup of copper in other organs can cause:
- Anemia:Due to the large amount of copper released into blood stream in wilson disease anemia occurs
- Bluish discoloration in the nails
- Kidney stones
- Premature osteoporosis, or lack of bone density
- Arthritis
- Menstrual irregularities
- Low blood pressure
DIAGNOSIS:
- The gold standard for the diagnosis of Wilson disease is Liver biopsy with quantitative copper assay
- In patients presenting with hepatic decompensation due to wilson disease, the disease severit is estimated using the Nazer prognostic index
- Patients with scores < 7 can be managed with medical therapy.
- Patients with scores > 9 should be immediately referred for liver transplantation
- ISHAK score is used to assess fibrosis in liver biopsy
- Lille score is used in alcoholic hepatitis to assess the treatment response with steroids
- Rockall score is used in the setting of nonvariceal GI bleed.
Essentials of Diagnosis & Typical Features of Wilson disease:
- Acute or chronic liver disease
- Deteriorating neurologic status
- Kayser-Fleischer rings
- Elevated liver copper
- Abnormalities in levels of ceruloplasmin and serum and urine copper.
TREATMENT:
- Treatment often happens in three stages and should last a lifetime.
First stage:
- Remove excess copper from body through chelating therapy.
- Chelating agents include drugs like d-penicillamine and trientine, or Syprine.
- During treatment for Wilson disease with trientine and penicillamine, free serum copper should be kept below 25mcg/dl
Second stage:
- Maintain normal levels of copper after removal.
- Zinc taken orally as salts or acetate (Galzin) keeps the body from absorbing copper from foods
- Nontoxic
- Produces a negative copper balance by blocking intestinal absorption of copper
- It induces hepatic metallothionein synthesis, which sequesters additional toxic copper
Third stage
- Maintenance therapy: This includes continuing zinc or chelating therapy and regularly monitoring your copper levels.
| Condition | DOC |
| Hepatitis or cirrhosis without decompensation: | Zinc |
| Cirrhosis with decompensation: | Trientine and Zinc |
| Mild – | Trientine and Zinc |
| Moderate – | Hepatic transplantation |
| Severe – | Hepatic transplantation |
Exam Question
- Advatage of Zinc treatment in wilson disease is that it’s Nontoxic, Produces a negative copper balance by blocking intestinal absorption of copper, induces hepatic metallothionein synthesis, which sequesters additional toxic copper
- In wilson disease patients with hepatic decompensation the disease severity is assessed using Nazer prognostic index.
- DOC in Wilson disease with Neurologic/Psychiatric manifestation is Tetrathiomolybdate and zinc
- Low ceruloplasmin is the diagnostic feature of wilson’s disease
- Siblings of the diagnosed patient with Wilson disease will be having 25% risk of Wilson disease
- Free copper level is increased in the body however Serum copper level is usually lower than normal in wilsons disease
- Due to the large amount of copper released into blood stream in wilson disease anemia occurs
- Kayser-Fleischer ring will be present in Almost 100 % proportion of patients with neurologic manifestations of wilson disease
- The gold standard for the diagnosis of Wilson disease is Liver biopsy with quantitative copper assay
- In a patient with wilson disease related compensated cirrhosis, without evidence of neurologic or psychiatric symptoms the best treatment option is Zinc
- During treatment for Wilson disease with trientine and penicillamine, free serum copper should be kept below 25mcg/dl
- Intestinal absorption is increased in Wilson disease
- Gene responsible for Wilson disease is situated on chromosome no 13
Don’t Forget to Solve all the previous Year Question asked on Wilson’s disease
