P1420 - Possible Case Of Hereditary Hemochromatosis Overshadowed By Hepatic Sarcoidosis

Renisha Redij, MBBS¹, Sarmad Pirzada, MD¹, Stefan Odabasic, MD^2
1Trinity Health Livonia Hospital, Farmington Hills, MI; ²Trinity Health Livonia Hospital, Livonia, MI

Introduction: We report a case of unnoticed hemochromatosis with prior hepatic sarcoidosis that highlights the challenges in diagnosis, especially in the context of alternate promising pathology that may mask coexisting iron overload, thus delaying diagnosis and hindering prompt management.

Case Description/Methods: A 53-year-old male with a 30-year history of type 2 diabetes mellitus, hypertension, recent combined systolic and diastolic heart failure, end-stage renal disease on hemodialysis, and decompensated liver cirrhosis presented with symptoms of left thigh myositis.

A review of his medical history revealed that four years ago, he experienced fatigue and unintentional weight loss of over 40 lbs in 3 months. Investigations at the time showed elevated liver enzymes, creatinine, calcium levels, and ferritin. Iron studies were notable for normal transferrin saturation as well as vitamin B12 and folate levels. The patient had no history of alcohol use, with negative viral and autoimmune panels. Further imaging with MRCP revealed diffuse liver nodularity with normal morphology, suggestive of sarcoidosis in the context of hypercalcemia. A liver biopsy confirmed multiple granulomatous foci with focal necrosis. Furthermore, bone marrow biopsy for evaluation of thrombocytosis indicated mild megakaryocytic hyperplasia with non-caveating granulomas and increased iron stores. It was concluded that his symptoms were attributed to sarcoidosis.

During this admission, iron studies showed normal serum iron, elevated ferritin, and elevated transferrin saturation. Given multi-organ failure with persistently elevated ferritin, increased percent saturation, and strong clinical suspicion of iron overload, HFE genetic studies were conducted. These revealed heterogeneous positivity for pathogenic variants in H63D, thus validating our suspicion.

Discussion: In this case, having a biopsy-proven diagnosis of hepatic sarcoidosis that could explain the patient's symptoms may have overshadowed the presence of concurrent iron overload. Hemodialysis could have also affected iron studies. Additionally, normal transferrin saturation during some instances, even with persistently elevated ferritin levels, may have delayed the workup further.

A literature search revealed five reported cases of hemochromatosis with hepatic sarcoidosis, one of which had heterozygous positivity for H63D. This co-occurrence may increase the risk of cirrhosis, thus necessitating the need for prompt workup for iron overload in suspected cases.


Disclosures:


Renisha Redij, MBBS¹, Sarmad Pirzada, MD¹, Stefan Odabasic, MD². P1420 - Possible Case Of Hereditary Hemochromatosis Overshadowed By Hepatic Sarcoidosis, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.