Too Much Ferritin, Too Little Overload

Abstract 5154

A healthy 42y/o, White, male, without any systemic illnesses or complaints presents with a serum ferritin of 1800ng/mL; the discrepancy between his optimal physical status and the laboratory result, poses a challenge to the most astute clinician. The fundamental goal of this abstract is to provide recognition and prevention to torment that patients with Hereditary Hyperferritinemia Cataract Syndrome (HHCS) are exposed to. The history will offer an important clue, of early onset cataracts. Our patient was guided by an older sibling who herself for many years underwent unnecessary clinical management for hemochromatosis. The presence of hereditary hyperferritinemia cataract syndrome (HHCS) has been defined in families all across the world and likely is under-diagnosed. Such a rare syndrome may never make it into a hematology practice and be missed while the focus is on the “panic” ferritin result. Our patient is part of a family who has had the syndrome since at least the mid 1800's. The scope of this disorder is bringing to reality that confirmation of genetic testing doesn't change management and that the only intervention will be ophthalmologic. The abundant testing for ferritin across medical specialties may cause a rise in HHCS cases, recognizing this syndrome early on will lead to protect patients from insistent and costly interventions. These patients tolerate poorly phlebotomies and will develop iron deficiency anemia. Although appropriate data is available regarding HHCS there is no relevant clinical data to support a poor clinical outcome, and the precise recognition this triad (cataract, asymptomatic patient and hyperferritinemia) will avoid worthless and costly investigations. In this case, a family member who was victimized by excessive workup, was able to research, discover the family mutation and offer this practitioner the tools towards practicing better patient care. In summary, Hereditary Hyperferritinemia Cataract Syndrome is a benign condition that requires avoidance of increased healthcare costs for the proband.