A 40-year-old non-alcoholic male patient presented to the OPD with jaundice, lethargy, ahralgia, skin pigmentation, loss of libido, polyuria, polydipsia and exeional dyspnea. O/E, Hepatosplenomegaly Increased pigmentation and spider angiomas Ahropathy Ascites Loss of body hair and testicular atrophy Iron studies were done. LFTs were deranged and insulin levels were raised. Liver biopsy was also performed. Patient had no history of intake of any long-term medication. Iron studies are: – Plasma iron – 200 microgm/dL TIBC- 300 microgm/dL Transferrin saturation -90% Serum ferritin -5000 microgm/L Liver iron -10000 microgm/ gm of dry weight Hepatic iron index – 3 Which is the most common mutation seen in the above condition: –
A 40-year-old non-alcoholic male patient presented to the OPD with jaundice, lethargy, ahralgia, skin pigmentation, loss of libido, polyuria, polydipsia and exeional dyspnea. O/E, Hepatosplenomegaly Increased pigmentation and spider angiomas Ahropathy Ascites Loss of body hair and testicular atrophy Iron studies were done. LFTs were deranged and insulin levels were raised. Liver biopsy was also performed. Patient had no history of intake of any long-term medication. Iron studies are: – Plasma iron – 200 microgm/dL TIBC- 300 microgm/dL Transferrin saturation -90% Serum ferritin -5000 microgm/L Liver iron -10000 microgm/ gm of dry weight Hepatic iron index – 3 Which is the most common mutation seen in the above condition: –
💡 Explanation
**Core Concept**
Hemochromatosis is a genetic disorder characterized by excessive iron accumulation in the body, leading to tissue damage and organ dysfunction. It is an autosomal recessive disorder, affecting the HFE gene, which codes for the HFE protein involved in iron metabolism.
**Why the Correct Answer is Right**
The patient's symptoms, such as jaundice, lethargy, arthralgia, skin pigmentation, loss of libido, polyuria, polydipsia, and exertional dyspnea, along with the laboratory findings, including elevated plasma iron, transferrin saturation, serum ferritin, and liver iron, are consistent with hemochromatosis. The presence of liver biopsy findings, such as hepatic iron index (HI) of 3, which is significantly higher than the normal range (HI > 1.9), supports this diagnosis. The HFE gene mutation is the most common cause of hereditary hemochromatosis, responsible for approximately 90% of cases.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is not mentioned in the question stem, so I will skip it.
**Option B:** While other mutations can cause hemochromatosis, such as HJV, HAMP, and SLC40A1, the question asks for the most common mutation, which is the C282Y mutation in the HFE gene.
**Option C:** This option is not a known mutation associated with hemochromatosis.
**Option D:** This option is not a known mutation associated with hemochromatosis.
**Clinical Pearl / High-Yield Fact**
The C282Y mutation in the HFE gene is the most common cause of hereditary hemochromatosis, and it is often associated with a homozygous genotype (C282Y/C282Y). Early diagnosis and treatment can prevent organ damage and improve patient outcomes.
**Correct Answer: B. C282Y mutation in the HFE gene.**
✓ Correct Answer: A. C282Y
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