Case Presentation: A 43-year-old female presented with a three-week history of shortness of breath and abdominal pain. The patient denied alcohol use and stated that she previously had regular menstrual periods until 14 months ago when she entered menopause. Physical exam on admission was significant for jugular venous distension, scleral icterus, mild bibasilar crackles, palpable hepatosplenomegaly, and 3+ lower extremity edema to the knees. Labs were significant for elevated alkaline phosphatase, AST, ALT, BNP, D-dimer, ferritin, and hyperbilirubinemia. An abdominal ultrasound did not show any gallbladder pathology, but did show signs of underlying liver disease. A TTE performed on hospital day 2 showed global hypokinesis with an ejection fraction of 26%, systolic and diastolic dysfunction, and an apical thrombus. HFE gene testing ordered on day 4 demonstrated a homozygous C282Y mutation. A liver/cardiac MRI ordered on day 5 showed morphologic changes of cirrhosis and portal hypertension, along with moderate to severe hemosiderosis of the pancreas, suggesting primary hemochromatosis and iron overload. Liver biopsy performed on day 10 demonstrated elevated liver tissue iron, iron index, and marked hepatocellular iron deposition. The patient was also noted to have non-sustained ventricular tachycardia, for which she was discharged with a life vest for prevention of sudden cardiac death in the setting of severely depressed ejection fraction. During the hospital course, the patient improved clinically with diuresis and supportive care. The patient failed to tolerate a trial of Beta-blockers and was ultimately discharged on diuretics, an ACE inhibitor, and Lovenox for the left ventricle thrombus with follow-up appointments with cardiology and gastroenterology.
Discussion: Here, we report a case of hereditary hemochromatosis (HH) resulting in severe heart failure (HF). Diagnosis of HH as a cause of HF should be suspected in Caucasian patients presenting with HF in the setting active liver disease, abnormal iron studies, or first-degree relative with HH. Most female patients with HH homozygous for the C282Y mutation have a median age of presentation of 62 years old, which is both later and milder than in males. The delayed onset and milder symptoms typically seen in women at presentation-something not seen in our case-are thought to be secondary to regular menstrual cycles that delay iron accumulation. Whether our patient had shorter menstrual cycles or a rapid accumulation of iron following menopause remains unclear. MRI of the heart and liver and genetic testing are definitive tests that can confirm a diagnosis. Prompt treatment of HH should be performed to prevent further damage; one study showed that significant hepatic fibrosis, excepting cirrhosis, can be reversed through iron removal. Treatment for HH is achieved through phlebotomy and iron chelation. Patients presenting with more advanced disease, such as our patient, require additional studies and coordination with specialty services such as cardiology and hepatology. This case highlights the importance of a team-based approach in evaluating HH cases to quickly establish a diagnosis and start treatment to minimize future morbidity and mortality.
Conclusions: HH is one of the most common genetic disorders in Caucasians, involving excessive iron absorption and subsequent organ damage. It is necessary for physicians to consider HH in patients with the typical cluster of cardiac, endocrine, and hepatic dysfunction, regardless of age at presentation.
To cite this abstract:Schlidt, K; Kadlec, A; Henricks, E; Buddhadev, P; Jha, P. CLASSIC PRESENTATION OF HEMOCHROMATOSIS IN A POST-MENOPAUSAL WOMAN. Abstract published at Hospital Medicine 2019, March 24-27, National Harbor, Md. Abstract 967. https://www.shmabstracts.com/abstract/classic-presentation-of-hemochromatosis-in-a-post-menopausal-woman/. Accessed January 28, 2020.