Patient Insights into and Satisfaction with Treatment, Management, and Clinical Research of Hereditary Hemochromatosis.

INTRODUCTION

Hereditary hemochromatosis (HH) is a metabolic disorder characterized by excessive iron absorption, leading to damage of the liver, heart, and pancreas. The patient experience of living with HH has not been extensively described. We therefore aimed to understand the experiences of patients living with HH, including those who are intolerant to currently recommended treatment.

METHODS

We consulted eight patients living with HH from North America, Europe, and Oceania, exploring their diagnostic journey and their lives and care management experiences. We also qualitatively assessed patient levels of satisfaction with their current treatment, evaluated their attitudes and views toward clinical research on HH, and identified potential drivers and barriers to clinical trial participation. A thematic approach was used to analyze the data.

RESULTS

Patients were mostly of Northern or Western European ancestry (n = 7) and currently receiving phlebotomy (n = 6). Two patients were receiving iron chelation therapy. Patients ranged in age from their 20s to 70s. The median time since diagnosis was 2 (range 0‒33) years; 2 patients were diagnosed within the past year. Patients expressed varying levels of satisfaction with their treatment, based on experience of side effects (i.e., fainting, extreme fatigue), the emotional toll, needle phobia, treatment logistics, and time burden. Feelings of altruism, connections with the HH community, and the potential for new treatment options were among the motivators to join a clinical trial, while side effects were viewed as the primary barrier.

CONCLUSION

This research provides insights into the patient experience that can inform treatment management and clinical trial design.