Towards organization of care for patients with hereditary haemochromatosis

Hereditary haemochromatosis (HH) is a disorder of iron homeostasis with an autosomal recessive inheritance. The prevalence is 1/200 to 1/400 in Northern Europe and the carrier frequency is 1/10. The penetrance of HH is rather low. Homozygous carriers of the p.C282Y mutation may remain asymptomatic and have a normal quality of life (QoL). But iron accumulation can cause organ damage, resulting in liver dysfunction (fibrosis, cirrhosis, hepatocellular carcinoma), arthropathy, diabetes mellitus, and this can have an impact on the QoL. Complications and symptoms can regress by intensive treatment reducing the iron overload of the body.

The most common treatment is phlebotomy every week/fortnight during the depletion phase and every three to six months as maintenance therapy and consists of bloodletting of approximately 500 ml of whole blood (representing about 250 mg of iron). Secondly, erythrocytapheresis can be performed and is a treatment by which red blood cells are removed using an apheresis device. This is used in patients who do not tolerate phlebotomies for several reasons.

There are different guidelines on the topics of diagnosis and treatment of HH but they do not always correspond well and recommendations are frequently based on expert opinion (guidelines from the European Association for the Study of the Liver; the American Association from the Study of Liver Diseases; Dutch guideline). Related to the diverse presenting symptoms, patients are followed by different specialized healthcare providers, varying from gastro-enterologists, hematologists, rheumatologist to endocrinologists, internists, but also general practitioners, which results in differential follow-up and treatment strategies. There is a lack of congruence in follow-up strategies, as well as a gap in information transfer, continuity and care coordination. Cases from teaching hospitals are known where HH patients had developed cirrhosis and HCC, while cirrhosis was not diagnosed and therefore surveillance screening of the liver with ultrasound had not been performed.

HH is a chronic condition and several care models for the management of chronic diseases exist, with their specific focus areas. The Chronic Care Model (CCM) of Wagner as well as the Innovative Care for Chronic Conditions (ICCC) are already used in several settings to optimize care for patients with chronic conditions as HIV/AIDS, hypertension, diabetes, depression. t also in care for patients with HH there is an urgent need for the development of a management  model, organized from a chronic care perspective. Initial treatment in a (university) hospital setting should be followed by a phase of maintenance treatment, in order to sustain the positive effects of the initial more intense treatment phase and improve outcomes on the short and long-term.

The overall aim of this doctoral project is to evaluate the current care for patients with hereditary haemochromatosis, resulting in four research questions (RQ).

RQ 1:     What is the quality of the existing guidelines for hereditary haemochromatosis?

RQ2:      Which treatment and follow-up is required to ensure good quality of care in HH patients?

RQ3:      How is the current care at the University hospital Leuven, Gasthuisberg for patients with hereditary haemochromatosis, based on predefined key-interventions (RQ2)?

RQ4:      Does the intake of proton pump inhibitors decrease phlebotomy need?