C0570 - Iron Man: A Case of Non-HFE Hemochromatosis Without Significant Fibrosis

Hunza Chaudhry, MD¹, Aalam Sohal, MD², Arpine Petrosyan, MD², Devang Prajapati, MD^2
1UCSF-Fresno, Fresno, CA; ²UCSF Fresno, Fresno, CA

Introduction: Hereditary hemochromatosis (HH) is a rare disorder with abnormally high levels of intestinal iron absorption leading to end organ damage. It is classically associated with HFE gene mutation although there are isolated case reports of non-HFE hemochromatosis. We present a case of an elderly man evaluated for elevated ferritin found to have non-HFE hemochromatosis.

Case Description/Methods: A 74-year-old Japanese man with a medical history of colon cancer status post hemicolectomy was evaluated for ferritin above 1500 mg/dL. He was asymptomatic and laboratory studies revealed hemoglobin 10.2 g/dL, iron 239 mcg/dL, iron saturation >90%, transferrin 195 mg/dL and normal liver enzymes. Given the elevated ferritin and iron saturation, there was a concern for iron overload. Genetic testing for HFE mutation was negative. Secondary causes of iron overload such as thalassemia, or prior history of transfusions were ruled out. Magnetic resonance imaging (MRI) of the abdomen revealed iron deposition with hypointense liver on T2-weighted imaging and normal appearing spleen consistent with primary hemochromatosis (Figure 1a). Given elevated ferritin, a liver biopsy was performed to assess for fibrosis which revealed coarse iron deposits corresponding to hemosiderin, without fibrosis (Figure 1b-c). The hepatic iron index was 4.3 and hepatic iron concentration by weight was 1770 ug/g further suggesting a diagnosis of non-HFE hemochromatosis. Hematology was consulted and the patient underwent phlebotomy treatments. The patient developed symptomatic anemia therefore phlebotomy was stopped and deferasirox was initiated. He remains under close monitoring. Results of further non-HFE gene testing are pending.

Discussion: HFE gene modulates the expression of hepcidin, an iron-regulating hormone in the liver controlling the delivery of iron into the circulation. Primary mutations in HFE gene are the most recognized genetic disorders however, other rare non-HFE genes such as hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor (TFR2) and ferroportin (SLC40A1) can also be involved. The diagnosis typically involves excluding secondary causes of iron overload, assessing degree of iron stores and hepatic fibrosis. It is interesting to note that our patient had no fibrosis despite the long duration of disease and degree of ferritin elevation. This case emphasizes that elevated ferritin levels should be evaluated diligently and early recognition can lead to a prompt diagnosis and initiation of life-saving treatment.



Disclosures:


Hunza Chaudhry, MD¹, Aalam Sohal, MD², Arpine Petrosyan, MD², Devang Prajapati, MD². C0570 - Iron Man: A Case of Non-HFE Hemochromatosis Without Significant Fibrosis, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.