HETEROZYGOUS HEMOCHROMATOSIS: A RARE CASE REPORT
Dr.Nirmit Patel 1,MBBS;Dr Aneri Patel 1,MBBS:,Dr Viral Patel 2,MBBS;Dr Sakshar Patel 3,MBBS; Dr Dhrushi Patel 4,MBBS;Dr Parth Patel 4,MBBS;Dr Sarth Patel 4,MBBS;
Dr.Manan Patel 5,MBBS.
1.GCS Medical College,Hospital & Research Center,Ahmedabad 2.Medical College,Baroda 3.NHL Medical college,Ahmedabad 4.B.J Medical college,Ahmedabad 5. Pacific Medical College and Hospital,Udaipur
ABSTRACT:
Hereditary hemochromatosis(HH) is a common autosomal recessive iron storage disease. The classic clinical triad of liver cirrhosis,hyperpigmentation, and diabetes is nowadays rare, most likely due to early recognition1. Usually, the homozygous C282Y mutation in the HFE gene is responsible for most cases of hereditary hemochromatosis2. Here, we are presenting a case of a 31 Year Old female patient, who presented with  yellow discoloration of her urine followed by yellow discoloration of her eyes associated with headache, nausea, and vomiting and later on, it was diagnosed heterozygous hemochromatosis.
BACKGROUND:
Hereditary hemochromatosis (HH), is an autosomal recessive disorder with iron overload in several organs, especially within the liver. The monoallelic genetic disorder-hereditary hemochromatosis, was first described by Trousseau in 1889 as a triad of glycosuria, cirrhosis, and hyperpigmentation of the skin. The term hemochromatosis was first employed by Von Recklinghausen in 18893. HH is usually because of two histone family E1 (HFE1), gene mutations-C282Y, and H63D4.The HFE gene is present within the human leukocyte antigen (HLA) class 1 region on chromosome 6 between the genes coding for HLA-A and HLA-B. Two mutations within the HFE gene are described. The first mutation is at C282Y,consisting of substitution of tyrosine for cysteine at amino acid position 282. The second mutation is at H63D in which amino acid is substituted for histidine in position 63. Either C282Y or H63D is found in most patients with HH5. Secondary hemochromatosis is caused by disorders of erythropoiesis and treatment of the diseases with blood transfusions6. Hereditary hemochromatosis is characterized by abnormal iron absorption from the diet leading to progressive iron overload, causing tissue damage in several organs, particularly the liver7.HFE gene mutations are strongly associated with predisposition to HH and are also implicated in other disorders such as rheumatoid arthritis, type 2 DM, porphyria cutanea tarda, and coronary heart condition. Considerable ethnic variation is observed within the distribution of HFE mutations. We hereby report a case of a heterozygous hemochromatosis who presented with a yellow discoloration of her urine followed by yellow discoloration of her eyes associated with headache, nausea, and vomiting8.
CASE DESCRIPTION:
31 Year Old, otherwise healthy female with no significant past medical history presented to ED with complaints of yellow discoloration of her urine followed by yellow discoloration of her eyes associated with headache, nausea, and vomiting.She also had abnormally high liver enzymes with AST and ALT as high as the 2000’s with an associated conjugated hyperbilirubinemia. Before that, she had decreased appetite and some vague abdominal pain for the past 2 days along with the sensation of constipation. She took a probiotic and some cranberry pills which didn't seem to help improve her urine color and abdominal discomfort. Family history was negative for liver disease and autoimmune disorders. She denies a history of IV drug use, recent NSAIDs use, and recreational medications such as ecstasy or amphetamines or cocaine.All the laboratory workup for infections as well as autoimmune etiology were negative. She had an Ophthalmology/optometry examination in August 2019 and no Kayser-Fleischer rings were seen. USG abdomen and MRCP shows gallbladder wall thickening with gallbladder wall measuring up to 4.5 mm and no cholelithiasis/choledocholithiasis. Her gamma globulin level was normal, Monospot negative, negative for hepatitis A, B,and C and HIV screen. Liver enzymes remain elevated (>1000) in a predominantly hepatocellular pattern with cholestasis and decided to do the outpatient liver biopsy next week and discharged, but the Patient began to develop RUQ pain, nausea, vomiting, and worsening jaundice yesterday which prompted her to return to ED.