Hemochromatosis and Wilsons Disease MCQs

The patient has haemochromatosis as evidenced by the pigmentation and the hepatomegaly. Hemochromatosis involves joints mainly the second and the third MCP joints. It mainly causes chondrocalcinosis. Reference : Harrison's Principles of Internal Medicine , 21 st ed, Ch: 374, Pg: 2871

Ans. is 'c' i.e., Increased copper in liver Diagnosis of Wilson disease The gold standard for diagnosis is liver biopsy with quantitative copper assay --> concentration of copper in a liver biopsy sample > 200 mg/g dry weight. Other tests are ? Serum ceruloplasmin level --> low o Urine copper excretion --> increased KF rings o DNA Haplotype analysis.

The presence of hepatomegaly, involuntary movements points to Wilson's disease. Wilson Disease is an inherited condition that causes the body to retain excess copper. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson Disease can cause severe brain damage, liver failure, and death.

The ground glass appearance of the stones suggests cystine stones . Hexagonal crystals are seen in Cystinuria. Autosomal recessive disorder. Abnormal reabsorption of basic aminoacids.(COAL - cystine, ornithine, arginine, lysine). Visible on plain radiograph. Form staghorn calculi. Raising urinary pH using potassium salts, as sodium can cause increased cystine excretion. Drugs that covalently bind Cystine and facilitate its solubility are also used. Eg: D Penicillamine and Tiopronin. The latter has a better side effect profile. Reference: Harrison's Principles of Internal Medicine, 21 st ed, Ch: 318, Pg: 2370-2373.

Ans. is 'a' i.e., Copper Copper containing protein ceruloplasmin is necessary for transport of iron in the Ferric form across membranes Copper is an integral component of ALA synthase, which is necessary for heme synthesis Copper helps in the uptake of iron across normoblasts

Wilson's disease can present with early Parkinson's, psychiatric symptoms and dysarthria. It also causes abnormal liver function. It is an autosomal recessive condition. Serum copper and ceruloplasmin are low. Urinary copper excretion is raised. Reference : Harrison's Principles of Internal Medicine 21 st ed, Ch: 415, Pg: 3235-3236

Explanation: The Kayser-Fleischer (KF) ring is due to copper deposition in Descemet's membrane of the cornea . It is a hallmark feature of Wilson's disease , an autosomal recessive disorder of copper metabolism characterised by hepatic, neurological, and psychiatric manifestations . Slit-lamp examination is the best method to visualise KF rings. Explanation of other options: Hemochromatosis (Option A): Characterised by iron overload affecting the liver, pancreas, heart, and skin ("bronze diabetes"), but no KF ring is seen. Alzheimer's disease (Option C): A neurodegenerative disorder with memory loss and amyloid plaques, not associated with copper deposition. Huntington's disease (Option D): A genetic movement disorder due to CAG repeats, with chorea and psychiatric features, but no ocular signs like KF rings.

Answer is C (Urinary copper excretion is 100 p (>1.6 umol) per 24 hours. Wilson's disease is an autosomal recessive disorder It is caused by a mutation of a gene on chromosome BQ which promotes Cu excretion (ATP 7B gene) Symptomatic patients with Wilson's disease invariably have urinary copper excretion of >100 lig, per 24 hours (>1.6 innol /24 hr) Zinc is the treatment of choice for maintainance therapy in Wilson's disease Zinc is the treatment of choice in Wilson's disease for A. Initial therapy in patients with hepatitis without decompensation(2 A. Maintainance therapy B. Presymptomatic patient C. Pediatric patients D. Pregnant patients