S3508 A Rare Case of Juvenile Hemochromatosis

Abstract

INTRODUCTION: Juvenile hemochromatosis is a rare phenomenon seen in patients who have a severe overload of iron in the first three decades in life. It is the most severe form of hereditary hemochromatosis and can cause further clinical complications of cardiomyopathy, hypogonadism, and liver fibrosis. The disease process can progress and cause signs of fatal heart failure. Both male and female populations are equally represented. Lab studies usually reveal elevated serum ferritin and transferrin saturation and gene transformation for HFE mutation is often positive. Phlebotomy is pursued in order to achieve iron depletion which greatly reduces morbidity and mortality. We present a 19 year old male who arrived at an outpatient hematologist office for evaluation of his fatigue. CASE DESCRIPTION/METHODS: This is a 19 year African American old male with no PMH history who arrived at an outpatient hematologist office after having routine blood work for his symptoms of fatigue. Referral labs indicated a ferritin of 1322 associated with an elevated total bilirubin of 3.5 and direct bilirubin that was mostly indirect. On physical examination, the patient had mild scleral icterus but a benign examination. Outpatient lab work revealed a total bilirubin of 5.2, direct bilirubin less than 0.2, Combs test negative, ferritin 1301, haptoglobin at 18. Hemoglobin electrophoresis showed a decreased MCV secondary to a beta thalassemia trait. A hemochromatosis DNA analysis revealed that the patient had a homozygous trait of C2827 locus further indicating a diagnosis of hemochromatosis. A MRI of the liver demonstrated increased iron overload and tiny gallstones. The patient proceeded with an outpatient cholecystectomy and liver biopsy. He was started on a regular phlebotomy program every 2 weeks with the goal of getting his serum ferritin level below 100. DISCUSSION: Juvenile hemochromatosis is a rare inherited autosomal recessive manner. Juvenile hemochromatosis shares numerous features with adult hemochromatosis, but iron deposition occurs at an accelerated rate. It is important to note that there is no gender disparity. Clinicians should refer to an outpatient hepatologist for further management and seek early treatment with phlebotomy as it can prevent and even reverse secondary complications of organ damage. In our particular case, the patient was identified early in the disease course and significantly improved his outcomes.