From the Guidelines
Kayser-Fleischer rings are a key diagnostic sign of Wilson's disease, and their presence, along with neurological symptoms and abnormal copper metabolism tests, strongly suggests this rare genetic disorder. These rings are copper deposits that appear as golden-brown or greenish rings around the cornea of the eye, forming when excess copper in the bloodstream deposits in the Descemet's membrane of the cornea 1. They are typically visible to the naked eye in advanced cases but may require a slit-lamp examination by an ophthalmologist for early detection. The presence of Kayser-Fleischer rings is a critical diagnostic criterion, and their absence does not exclude the diagnosis of Wilson's disease, even in patients with predominantly neurological disease 1.
Diagnostic Approach
The diagnostic approach to Wilson's disease involves a combination of tests reflecting disturbed copper metabolism, including:
- Kayser-Fleischer rings
- Low serum ceruloplasmin level
- Basal 24-hour urinary excretion of copper
- Hepatic parenchymal copper content
- Mutation analysis with specific allelic probes or by whole-gene sequencing 1 A diagnostic score based on all available tests can be used to establish a diagnosis, and a range of tests may be needed to confirm the diagnosis 1.
Management
If Kayser-Fleischer rings are detected, immediate referral to a hepatologist or neurologist specializing in Wilson's disease is essential for proper management. Treatment involves lifelong copper-chelating medications such as penicillamine, trientine, or zinc acetate to remove excess copper from the body 1. Early diagnosis and treatment are crucial to prevent irreversible liver damage, neurological complications, and other serious health problems.
Key Considerations
- Wilson's disease can present at any age, and age alone should not be the basis for eliminating a diagnosis of Wilson's disease 1
- The absence of Kayser-Fleischer rings does not exclude the diagnosis of Wilson's disease, even in patients with predominantly neurological disease 1
- A low serum ceruloplasmin level should be taken as evidence for the diagnosis of Wilson's disease, but borderline levels require further evaluation 1
From the FDA Drug Label
Copper is also deposited as characteristic, asymptomatic, golden-brown Kayser-Fleischer rings in the corneas of all patients with cerebral symptomatology and some patients who are either asymptomatic or manifest only hepatic symptomatology Kayser-Fleischer rings improved significantly during trientine hydrochloride treatment. In some cases, Kayser-Fleischer rings disappeared and clinical signs and symptoms improved
Kayser-Fleischer Rings are a characteristic sign of Wilson's disease. They are asymptomatic, golden-brown rings that appear in the corneas of patients with cerebral symptomatology and some patients with hepatic symptomatology.
- Treatment with penicillamine can lead to fading of Kayser-Fleischer rings and improvement of neurological symptoms 2.
- Trientine hydrochloride treatment can also improve Kayser-Fleischer rings 3.
- Zinc acetate therapy may lead to disappearance of Kayser-Fleischer rings in some cases 4.
From the Research
Kayser-Fleischer Rings in Wilson's Disease
- Kayser-Fleischer rings are a key diagnostic feature of Wilson's disease, an inherited disorder of copper accumulation 5, 6, 7, 8.
- These rings are caused by the accumulation of copper in the cornea and can be detected through a slit lamp examination 5.
- The presence and size of Kayser-Fleischer rings can correlate with the severity of Wilson's disease, with larger rings indicating more severe disease 6.
- Kayser-Fleischer rings are often used in combination with other diagnostic tests, such as urine copper, blood ceruloplasmin, and liver biopsy, to establish a diagnosis of Wilson's disease 5, 7, 8.
Diagnostic Criteria
- The diagnosis of Wilson's disease can be made if two of the following symptoms are present: Kayser-Fleischer rings, topical neurologic symptoms, and low serum ceruloplasmin levels 7.
- In less typical cases, diagnosis may require various other tests of copper metabolism, including 24-hour urine copper, liver copper, and plasma ceruloplasmin 5, 6, 8.
Treatment and Management
- Effective medical treatment with copper chelators (D-penicillamine, trientine) or zinc can result in symptomatic improvement and normal life expectancy 5, 9, 7, 8.
- Orthotopic liver transplantation is indicated in advanced cases with hepatic decompensation or in patients with fulminant Wilson's disease 7.
- Treatment requires life-long administration of copper chelators or zinc, and none of these treatments has been tested by prospective randomized controlled studies 8.