SUN-695 Clinical Presentation of a Patient With Hemochromatosis After Bariatric Surgery With HFE (H63D) Mutation

Abstract Disclosure: K. Baez: None. N. Punjabi: None. N. De La Cruz-Munoz: None. E. Bernal-Mizrachi: None. R.T. Varghese: None. 51-year-old male with a past medical history including vitiligo, class III obesity, status post-gastric sleeve surgery in 2021, hypertension, dyslipidemia, and obstructive sleep apnea. He presented to the endocrinology clinic for weight loss management. His pre-surgery weight was 440 lb (199.6 kg, BMI 58.1 kg/m2). Following his gastric sleeve procedure in July 2021, the patient experienced significant weight loss (85 pounds) but later regained 18 pounds. He also reported decreased libido and darkening of skin except for the area where he had vitiligo. Fasting morning labs revealed elevated estradiol 44 pg/ml (<=39), decreased free testosterone 32.4 pg/ml (35-155pg/ml), and total testosterone 204 ng/dl (250-1100 ng/dl). FSH and LH were within normal limits (inappropriate for low testosterone) leading to a diagnosis of hypogonadotropic hypogonadism. His liver enzymes were within normal limits. AST 20 U/L and ALT 19 U/L. Cortisol AM was 15 mcg/dl with ACTH at 180 pg/ml (6-50 pg/ml). Labs conducted for evaluation of nutritional deficiency given post-bariatric surgery status however revealed low vitamin D of 26 ng/ml (30-100ng/ml), iron level to be elevated at 229 mcg/dl (50-180 mcg/dl), % transferrin saturation of 60% (20-48%), and normal ferritin level at 118 ng/ml (38-380ng/ml). He thus had clinical, and laboratory features suggestive of hemochromatosis warranting labs and genetic testing. The gene accounting for most cases of Hemochromatosis is HFE. The patient was found to be homozygous for the HFE p.His63Asp variant. There are two mutations of the HFE gene associated with Hemochromatosis, C282Y and H63D. Homozygous C282Y is likely to lead to clinically relevant iron overload, while homozygous H63D is associated with a lower risk of iron overload. H63D is also associated with low penetrance, however, in this patient, the bariatric surgery may have also contributed to low ferritin, especially with elevated iron and other manifestations of hemochromatosis. The HFE p.His63Asp variant is reportedly associated with a low risk of clinically relevant iron overload with a normal ferritin level. Pituitary MRI was unremarkable for hemochromatosis. The patient's weight has fluctuated since his gastric sleeve surgery, with significant weight loss followed by weight regain. He started the Semaglutide which initially led to a loss of 13 pounds. In conclusion, this case report highlights the complex clinical presentation of hereditary hemochromatosis in a patient who had already undergone bariatric surgery. Systemic evaluation and labs will help in the appropriate diagnosis and management of underlying conditions such as hemochromatosis. Presentation: Sunday, July 13, 2025