Whipple’s And Wilson’s Disease Flashcards
(16 cards)
What is Wilson’s disease?
An autosomal recessive disorder characterised by excessive copper deposition in the tissues.
Wilson’s disease is caused by a defect in the ATP7B gene located on chromosome 13.
What are the metabolic abnormalities associated with Wilson’s disease?
Increased copper absorption from the small intestine and decreased hepatic copper excretion.
These abnormalities lead to copper accumulation in various tissues.
At what age does Wilson’s disease typically present symptoms?
Between 10 - 25 years.
Children usually present with liver disease, while young adults often show neurological symptoms first.
What are the liver-related features of Wilson’s disease?
Hepatitis and cirrhosis.
These conditions result from excessive copper deposition in the liver.
Which part of the brain is most affected by copper deposition in Wilson’s disease?
Basal ganglia.
Specifically, the putamen and globus pallidus are affected.
What are some neurological manifestations of Wilson’s disease?
Speech, behavioural and psychiatric problems, asterixis, chorea, dementia, parkinsonism.
These symptoms often represent the initial signs of the disease in young adults.
What are Kayser-Fleischer rings?
Green-brown rings in the periphery of the iris due to copper accumulation in Descemet membrane.
Present in around 50% of patients with isolated hepatic Wilson’s disease and 90% with neurological involvement.
What is the significance of renal tubular acidosis in Wilson’s disease?
It is particularly associated with Fanconi syndrome.
This condition results from copper accumulation affecting renal function.
What is the typical investigation for diagnosing Wilson’s disease?
Slit lamp examination for Kayser-Fleischer rings.
Additional tests include serum caeruloplasmin, serum copper levels, and urinary copper excretion.
What is the traditional first-line treatment for Wilson’s disease?
Penicillamine.
This medication chelates copper, helping to reduce its levels in the body.
What is Whipple’s disease?
A rare multi-system disorder caused by Tropheryma whippelii infection.
It is more common in those who are HLA-B27 positive and in middle-aged men.
What are common features of Whipple’s disease?
- Malabsorption: diarrhoea, weight loss
- Large-joint arthralgia
- Lymphadenopathy
- Skin: hyperpigmentation and photosensitivity
- Pleurisy, pericarditis
- Neurological symptoms (rare): ophthalmoplegia, dementia, seizures, ataxia, myoclonus
These symptoms reflect the systemic nature of the disease.
What is the key investigation finding in Whipple’s disease?
Jejunal biopsy shows deposition of macrophages containing Periodic acid-Schiff (PAS) granules.
This finding is crucial for diagnosis.
What is the recommended management for Whipple’s disease?
Oral co-trimoxazole for a year, sometimes preceded by a course of IV penicillin.
Guidelines may vary, but this approach is thought to have the lowest relapse rate.
What is the diagnostic liver findings on blood test for Wilson?
ALT raised; urinary copper raised; serum caeruloplasmin reduced
How is serum caeruloplasmin affected?
It is reduced in Wilson’s
