Referral of Patients with Newly Diagnosed Hemochromatosis
Patients with newly diagnosed hemochromatosis should be referred to a hepatologist or gastroenterologist, particularly when there is evidence of advanced disease (ferritin >1,000 μg/L, elevated liver enzymes, hepatomegaly, age >40 years, or platelet count <200), as these factors predict cirrhosis in approximately 80% of C282Y homozygotes and require specialized assessment for end-organ damage. 1
Risk Stratification Determines Referral Urgency
The decision to refer depends critically on disease severity markers:
High-Risk Patients Requiring Specialist Referral
Ferritin >1,000 μg/L with any of the following: elevated ALT/AST, hepatomegaly on examination, platelet count <200, or age >40 years in C282Y homozygotes—these patients have approximately 80% probability of cirrhosis and need liver biopsy consideration 1
Clinical manifestations of end-organ damage: including cirrhosis, diabetes, cardiomyopathy, cardiac arrhythmias, hypogonadism, or arthropathy (particularly second and third metacarpophalangeal joints) warrant hepatology or appropriate subspecialty referral 1
Compound heterozygotes (C282Y/H63D) with confirmed iron overload: these patients require investigation for additional causes of liver disease, as the genetic mutation alone rarely causes significant iron accumulation 2, 3
Lower-Risk Patients Who May Be Managed in Primary Care
Asymptomatic C282Y homozygotes with ferritin <1,000 μg/L and normal liver enzymes: these patients can often be managed with phlebotomy in primary care settings, though consultation may still be valuable for initial management planning 1, 2
H63D heterozygotes or homozygotes without iron overload: these patients are not at risk for progressive disease and can be reassured without specialist referral 3
Multidisciplinary Referrals Based on Organ Involvement
Beyond hepatology, consider additional specialist referrals based on clinical manifestations:
Cardiology referral: for patients presenting with heart failure symptoms, cardiomyopathy, or atrial fibrillation, as cardiac dysfunction can be a presenting feature of advanced hemochromatosis 1, 4
Endocrinology referral: for patients with diabetes mellitus, hypogonadism, testicular atrophy, or pituitary dysfunction 1
Rheumatology referral: for patients with significant arthropathy or chondrocalcinosis, particularly affecting metacarpophalangeal joints 1
Critical Pitfalls in Referral Decisions
Do not delay referral based solely on genetic testing results. The majority of patients are now identified while asymptomatic through screening, and approximately 75% of identified patients do not have symptoms at diagnosis 1. However, the presence of elevated ferritin >1,000 μg/L or other high-risk features mandates specialist evaluation regardless of symptom status.
Recognize that classical "bronze diabetes" presentation is now rare. Historical series from the 1950s-1980s showed 94% of patients had cirrhosis at diagnosis, but modern case-finding identifies patients much earlier 1. The classical triad of cirrhosis, diabetes, and skin pigmentation now represents only approximately one per 3,000 cases of cirrhosis 4.
Family Screening Coordination
Genetic counseling and family screening should be coordinated through the specialist or primary care provider. First-degree relatives require both phenotypic testing (transferrin saturation and ferritin) and HFE genotyping 2, 5. For children of a proband, testing of the other parent is recommended to assess risk 5.