Thesis Eva Rombout-Sestrienkova

Summary

Hereditary hemochromatosis is the most common autosomal recessive disorder in the population of north European origin and  is characterized by increased iron absorption, leading to a progressive iron accumulation in tissues and organs with impairment of their function, especially of the liver, heart, pancreas, joints, skin and gonads as a result. The treatment, consisting of two phases (depletion and maintenance), is based on the removal of excess body iron. Despite many scientific discoveries in the area of iron metabolism, treatment has remained the same for many decades and phlebotomy is still the corner stone. More recently erythrocytapheresis, a technique using apheresis equipment, has become an attractive alternative. With erythrocytapheresis selectively only red blood cells  are removed while valuable blood components such as plasma proteins and platelets, are returned to the patient. In this thesis we have systematically evaluated whether a personalized approach with erythrocytapheresis has an added value in the treatment of HH. It was shown that personalized erythrocytapheresis leads to a significant reduction in the number of treatment procedures as well as in treatment duration in the depletion phase of treatment. Additionally, we have shown a significant reduction in number of treatment procedures and significant extension of inter-treatment interval using erythrocytapheresis in the maintenance phase of treatment. In an observational study we demonstrated that erythrocytapheresis may lead to a better recovery of hemoglobin and hepcidin at start of the next procedure compared to phlebotomy. In conclusion we have provided evidence that personalized erythrocytapheresis is a very efficient treatment modality with a good balance between effectiveness, tolerability and costs.