Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of suspected hereditary hemochromatosis. Reports symptoms of fatigue, arthralgia (specifically 2nd/3rd MCP joints), abdominal pain, and decreased libido. Family history significant for iron overload, cirrhosis, or hepatocellular carcinoma. Denies excessive alcohol intake or supplemental iron use.
Clinical Examination Findings
Physical exam reveals bronze/hyperpigmented skin tone, hepatomegaly on abdominal palpation, and tenderness/swelling of the 2nd and 3rd MCP joints. Cardiac auscultation may reveal signs of cardiomyopathy (S3 gallop, irregular rhythm). Testicular atrophy noted in male patients.
Treatment Protocol
Initiate therapeutic phlebotomy protocol to achieve target serum ferritin <50 ng/mL and transferrin saturation <50%. Monitor CBC and iron studies bi-weekly during induction phase. Evaluate for end-organ damage (liver biopsy or MRI elastography for fibrosis, echocardiogram for cardiomyopathy). Advise avoidance of iron-fortified foods, vitamin C supplements, and raw shellfish.