Positive Iron Stain.
CASE DISCUSSION:
HH are often either asymptomatic or symptomatic. In some cases who test positive for HH remain asymptomatic throughout their life. In the present case, the patient presented with icterus, yellowish discoloration of urine, nausea, vomiting, and negative family history. The diagnosis of HH is predicated on the measurement of transferrin saturation, serum ferritin levels, and mutation analysis of HFE. In the present case, total iron (326 mg/dL) and serum ferritin (2506 mg/dL) were increased with a marked increase in transferrin saturation- (88%), >1.9 iron-age-index which is diagnostic of hemochromatosis. The patient had conjugated hyperbilirubinemia with transaminitis, a standard clinical finding in hemochromatosis. Liver biopsy confirmed the deposition of iron. Liver biopsy is helpful to evaluate the underlying disease which determines the fibrosis and degree of iron load9. The importance of liver biopsy also lies in the proven fact that documentation of extensive bridging fibrosis or cirrhosis includes a profound impact on the prognosis in HH patients 10. The absence of symptoms of hemochromatosis is common, particularly in young individuals, just because of the variable phenotypic expression of the disease and variations of lifetime accumulation of iron stores in tissues. Early detection, in conjunction with various routine screening procedures, is helpful and also important because effective therapy is accessible through phlebotomy 10-11-12. In patients with hidden liver dysfunction, search for underlying causes, like hemochromatosis, especially within the presence of skin pigment changes, recent-onset diabetes, or cardiomyopathy. Individuals who are heterozygous for C282Y and who have a coexisting insult to the liver, including medicine abuse , may present with overt manifestations of hemochromatosis .In hemochromatosis, a traditional anticipation are often achieved if early diagnosis and treatment are given before irreversible damage can occur.
CONCLUSION:
Hemochromatosis can be detected incidentally by routine examination and blood analysis, and its diagnosis can be made easily by mutation analysis.Today, C282Y and H63D mutations are detected in whole blood by polymerase chain reaction (PCR). Accumulation of iron in the body and detection of homozygous C282Y mutation is sufficient for the diagnosis of the disease.C282Y homozygosity is the most common mutation for hemochromatosis and proceeds with maximum iron accumulation. While the patients with both C282Y/H63D heterozygosity show moderate iron accumulation, H63D homozygous, and C282Y heterozygous are usually normal. To prevent the complication and for early detection, some specialists suggest screening to detect HH before it causes problems 10-11-12. To our best knowledge, this is the first case of its kind of hemochromatosis in which the patient presented with symptomatic hepatic failure without any positive family history in the setting of a single C282Y gene mutation 13. Obstructive cause were the initial suspected etiology and the most common etiology being ruled out via imaging and laboratory test.The team of Gastroenterology and Oncomedicine were refused that this level of iron overload as secondary to hemochromatosis being caused by just the single gene involvement 14. We conclude that individuals who may be heterozygous forC282Y gene who have coexisting insult to the liver, associated with the use of medications may still present with overt manifestations of iron overload 14.
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ABSTRACT:-
Hereditary hemochromatosis is a common autosomal recessive iron storage disease. The classic clinical triad of liver cirrhosis, hyperpigmentation, and diabetes is nowadays rare, most probably because of early recognition. Usually, the homozygous C282Y mutation in the HFE gene is responsible for most cases of hereditary hemochromatosis. We present a unique case of 31-Year-Old, otherwise healthy female with no significant past medical history presented to the ED with complaints of abnormally dark yellow discoloration of her urine followed by yellow discoloration of her eyes associated with headache, nausea, and vomiting with abnormally high liver enzymes with AST ALT as high as 2000’s associated with conjugated hyperbilirubinemia . Family history was negative for liver disease, autoimmune disorders. She denied any IV drug use, alcohol use, recent NSAIDs use or recreational medications. All laboratory workup for infectious as well as autoimmune etiology was negative. Imaging was also not impressive, USG abdomen and MRCP show gallbladder wall thickening. A liver biopsy was performed and it shows subtotal hepatic necrosis and a small collection of iron in the liver. PCR of blood shows a single mutation C282Y identified. To our knowledge, this is the first case of its kind of hemochromatosis in which a patient presented with symptomatic hepatic failure without any positive family history, it was assumed that she probably had a mutation in her genome which led to the manifestations. We conclude that Individuals who may be heterozygous for C282Y who have a coexisting insult to the liver, associated with the use of medications, may present with overt manifestations of iron overload. She is being treated with phlebotomy and her liver enzyme levels improved significantly.