A BSTRACT Hereditary hemochromatosis (HH) is the most common inherited disorder of iron metabolism, and its early diagnosis and management are crucial to preventing progression to cirrhosis. However, delayed diagnosis and lack of follow-up can lead to irreversible liver damage, including decompensated cirrhosis. Primary care plays a vital role in the early recognition and continuous management of patients with suspected HH. A 52-year-old woman with a history of hypothyroidism, epilepsy, and anxiety presented with jaundice, ascites, and bowel incontinence. She reported a prior diagnosis of HH but had never undergone genetic testing or consistent follow-up. Laboratory tests revealed elevated ferritin and transferrin saturation, consistent with iron overload. Imaging showed hepatosplenomegaly, ascites, and esophageal varices. Prognostic scores indicated severe liver dysfunction, prompting urgent referral for liver transplant evaluation. This case emphasizes the importance of early genetic testing, ongoing surveillance, and follow-up in patients with suspected HH. The lack of genetic confirmation and regular care contributed to the progression to decompensated cirrhosis. Primary care providers are essential in the timely diagnosis and management of HH, ensuring appropriate referrals and preventing irreversible liver damage. Prognostic tools, like the Child–Pugh and MELD–Na scores, help guide clinical decisions in managing advanced liver disease.
Machado et al. (Sun,) studied this question.