Hereditary hemochromatosis: a literature review and case report

To improve understanding in the physical therapy (PT) community of hereditary hemochromatosis (HH), a common but little-known iron overload disorder, symptoms of which may mimic other orthopaedic conditions. Medical management typically involves phlebotomy to remove excess iron; however, there is little specific information in the literature on PT management of patients with HH after trauma.

The patient was a 65-year-old woman with multiple fall-related traumas, including right wrist, thumb, and patellar fractures and left thigh muscle strain with significant ecchymosis and effusion. Medical history included HH. Iron-related lab values had been analyzed 9 days prior to the fall and had demonstrated a steady increase over the previous 4 months since her last phlebotomy.

As the level of exercise and activity increased during the course of PT treatment, the patient developed shortness of breath and increased fatigue. The exercise level in therapy was reduced to accommodate the change in the patient's response. Blood values analyzed 7 weeks after the fall demonstrated a drop in haemoglobin and hematocrit values, while serum ferritin levels had risen.

Understanding early symptoms and management of a patient with manifestations of HH will better enable physical therapists to consider this disorder as a differential diagnosis or co-morbidity that affects treatment considerations.