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Ria Guijt has suffered from Gauchers disease since she was a child. She is a qualified psychologist and is currently Vice-President of the Dutch Gaucher Association. Together with Mineke Ek, Research Nurse at the Amsterdam Medical Center, Ria has researched the quality of life of Dutch patients since they started enzyme replacement therapy. Ria related the results at the meeting of the European Working Group on Gaucher Disease in Prague on 2 May 2002.
Enzyme replacement therapy has been available to Gaucher patients in the Netherlands since 1991. Although the therapy has resulted in the decrease of liver and spleen size and an improvement in bone disease, little is known about the impact of the therapy on the chronic complaints that influence the quality of life of those suffering from the disease.
A chronic disease with pain and fatigue has a clear influence on quality of life. Gaucher disease is such a disorder in which fatigue, bone pain and a bleeding tendency are among the most common symptoms. Like individuals with other chronic illnesses, patients have to cope with limitations and the emotional consequences of their disease.
Quality of Life Questionnaire
Quality of life can be defined as the influence and limitations of illness on daily life. This involves judgements made by individuals about their satisfaction with every day activities. All Dutch patients who started enzyme replacement therapy in 1993 received a questionnaire which was subsequently repeated every year. Information covering six years of treatment is available.
A specific Gaucher questionnaire to evaluate the manifestations of the disease, the complaints and the limitations before and during enzyme replacement therapy was used.
Patients with Gaucher disease in the Netherlands are treated by a national protocol where individualised dosages are used and infusions given at home.
The questionnaire includes personal data about the patient, their medical history and the presence of symptoms like fatigue, loss of appetite, shortness of breath, an increased tendency to bleed and pain in joints and bones. There are also questions on daily life: living conditions, employment, social life as well as experiences of long term enzyme therapy.
Less Fatigue and Pain
Thirty-one patients participated in the questionnaire. At the start of therapy a substantial number suffered from fatigue, chronic pain and restrictions in daily life. After one year of treatment, only a slight improvement was apparent in fatigue and chronic pain but analysis of the data after six years of enzyme therapy shows that clear improve-ments are found with less fatigue, less resting during daytime and less pain.
In earlier studies it has been found that the energy expenditure in Type 1 Gaucher patients is greatly increased. This is probably the explanation for the increased need for snacks in between meals.
With enzyme treatment patients' energy expenditure decreases and our study found that the need for snacks also declined with patients having a more normal appetite. Over the years the mean bodyweight increased by 5 kilos (about 11 lbs).
Most patients in the Netherlands receive their infusions at home, with only one third needing some assistance. Since home treatment can also influence quality of life, it was important to discover what patients think about home infusions. Most of the patients use a butterfly needle while two patients use a portacath.
The frequency of the infusions at the start of the therapy was three times a week but after six years, 83% of the patients are infused just once a week, some infusing every two weeks.
In general it takes two hours to prepare and administer the infusion. The injection is in general successful at the first attempt.
At the start only a few patients reported that treatment imposed restrictions on their leisure time whilst most patients experienced the treatment being a little burdensome. After six years patients still reported time and freedom restrictions and the fact that they are dependent on others for a period of time. It also takes more effort to insert the needle and the procedure is more painful; this is caused by the increased sensitivity of the veins. Apart from this patients experience few or no side effects.
In general patients are very positive about the treatment. They perceive the benefits and feel better over time. The positive effects of the treatment far outweigh the negative aspects.
Despite the burden of administering infusions, the availability of enzyme supplementary therapy provides patients with the possibility of putting a stop to further deterioration and gives clear positive results to health. Furthermore long-term enzyme supplementary therapy leads to a stabilisation and even an improvement in the quality of life of many people with Gaucher disease.
Gauchers News Contents
Source: Gauchers News October 2002.
© Copyright Gauchers Association 2002