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Perspective interview - Ida Schwartz

Perspective interview - Ida Schwartz

2014 PKU Perspectives Ida Schwartz

Dr Ida Schwartz discusses the view from Brazil, where a national screening and treatment program for PKU has improved patient outcomes.

Many countries around the world still lack national screening programs for inborn errors of metabolism (IEMs.) At the 3rd Dietitians’ Workshop in Istanbul, Turkey in March 2013 Dr Ida Schwartz  presented an overview of PKU diagnosis and treatment in Brazil, where a nationally funded program of newborn screening was implemented in 2001.

Dr Schwartz is a clinical geneticist based at the Hospital de Clínicas de Porto Alegre, part of the Federal University of Rio Grande do Sul, in the south of Brazil. She has been working with PKU for 20 years but has also worked with other genetic conditions, including lysosomal storage disorders. For the last 10 years, PKU has been her primary focus.

Preventing the preventable

Consistent economic growth over recent years has seen Brazil move up the ranks of the world’s largest economies. We wanted to know if, and how, the improving eco nomy had led to improvements in public health and the care of patients. ‘The way we are looking for metabolic disorders in Brazil is certainly changing.’ Dr Schwartz told us. ‘Today, we have more disorders that are treatable. But, the overall quality of health and healthcare in Brazil is improving thanks to greater prosperity and access to medical care. In the past, in some areas of Brazil, the main reasons for infant mortality were infectious diseases or even maternal problems. With improvements in both the pre- and post-natal care the focus has switched to child deaths that result from genetic conditions that are not so easily preventable.’

The first laboratory in Brazil dedicated to the detection of hyperphenylalanaemias was established in 1976 in São Paulo , at APAE, a center for the care of children with learning disabilities . A federal law was passed in 1990 that made newborn screening compulsory, but at that time there was no nationally funded or coordinated program. In 2000, there was only 55% coverage and only 17 of the 27 Brazilian states had more than 30% coverage (Marini de Carvalho et al, 20073). The Brazilian Ministry of Health took action in 2001 to address this by establishing a national publicly funded, newborn screening program.

‘The program allows all babies born in Brazil to be screened without cost’, Dr Schwartz explained. ‘Currently we screen for PKU, hyperthyroidism, sickle cell disorder and cystic fibrosis. Some states also screen for other conditions, for example, biotinidase deficiency and congenital adrenal hyperplasia. Each state has at least one reference center that is responsible for performing the lab diagnosis and for follow-up of the patients. Treatment is also provided free of charge. For PKU, treatment is limited to supplying formula. Foods with low protein content are not supplied and so our patients do not have access to this kind of product unless they purchase it privately. Sapropterin (BH4) is not approved for treatment of PKU in Brazil at present.’

Has the program succeeded in improving the coverage of screening, we asked. ‘In Brazil we have 3 million newborns a year. Figures from the Ministry of Health show that the public program is screening 80% of these. However, the actual coverage is higher than this because some children are tested privately.’ [54.3% of all health expenditure in Brazil is non-governmental (2011) ]

From diagnosis to treatment

How effective is the follow-up of patients identified by the screening program? ‘The initial emphasis of the program was diagnosis, but with diagnosis comes the need for effective follow-up. Our emphasis today is on the quality of the follow-up we provide.

‘We have guidelines that the team which takes care of PKU patients should include: a pediatrician, a nutritionist, a psychologist and a social worker. In my center, we recommend that patients should go to the reference center once a month during infancy. We hope, however, they will continue to attend beyond infancy. When the patient visits we measure Phe levels, but the visits also give us the chance to check their weight and look at other aspects of their health. The frequency of visits and duration of follow-up varies between centers. The current guidelines focus on pediatric care but prior to 2001 we did not have national screening for PKU with follow-up management so we are only now seeing patients who are going through adolescence and into adulthood.’

Because the national screening program is only a decade old is there a particular issue with adult and late-treated patients we asked. ‘Around 30% of my patients are adults’, said Dr Schwartz. ‘Some of these were diagnosed before 2001 and most of these were late-diagnosed and are neurologically compromised to a degree. Because my center is one of the oldest we perhaps have a greater proportion of adult patients about whom we know.’

The challenge of adherence

Adherence to the PKU diet presents challenges to patients and the physicians that care for them in every country. What are the particular issues in Brazil that have required unique solutions? ‘In my center we see that around 50% of patients are adherent. This is similar to European centers from the literature,’ said Dr Schwartz.

‘However,’ she continued, ‘in order to provide effective support I believe it important to remember that the patient is not alone! By this, I mean that each patient is a member of a family and even part of a culture. So we, as physicians need to keep this in mind. We have to see not only the individual but also their context. Firstly, the family are important because we need them to support the patient and not undermine their treatment. Secondly, the wider culture, particularly the food culture, can also make a big difference to how the patient copes. In Brazil there is great cultural diversity, we are a mix of races and peoples. For example, in the south of Brazil, where I come from, meat is an important part of our food culture and diet. Here, we commonly eat meat every day and even apartments have barbecues. In the north and northeast, it is different. Here, they eat more fish and other things. For the PKU patient in the south, following the PKU diet is perhaps more difficult as a result.

‘Geographic factors can also play a part’ Dr Schwartz added. ‘In the north and north east patients can have difficulty accessing the reference centers because they are isolated by forest and must travel by river. If they don’t visit the reference center they do not have access to the formula and of course, this affects their adherence.’

The view from the south

How does the Medical Genetics Service at the Hospital de Clínicas work with the national program? ‘Our center takes care of patients with a broad range of genetic disorders, including metabolic disorders and we are a reference center for diagnosis and treatment. Because Brazil now has laboratories set up to handle the results from the newborn screening program we mainly diagnose those disorders that are not covered by this program such as lysosomal storage disorders, urea cycle disorders and beta oxidation disorders like glycogenosis (glycogen storage disease type I). We also provide care for patients, including those with PKU following diagnosis. There are at least five professors and about six physicians who deal solely with genetic disorders. We also have a residents’ program on clinical genetics. This is a three year program with a one-year follow-on program which focuses on inborn metabolic disorders.’

Next steps

Great changes have already taken place in Brazil, but we were keen to know what Dr Schwartz thought the next steps should be in order to better diagnose and treat IEMs. ‘We need to educate physicians about inborn errors of metabolism. This is a challenging task because little attention is paid to IEMs in many Brazilian medical schools because the conditions are considered so rare. We have to change this. We also need to expand the knowledge of those who are already practicing.  For example, medical geneticists are used to thinking about maternal phenylalanine embryopathy, but physicians in other specialties are not. We need to work more with gynecologists and with obstetricians in particular. I think this will be valuable because I believe there are many women of reproductive age who have PKU but do not know it. If the possibility of maternal PKU is recognized by a treating physician there is an opportunity to diagnose and then treat, to monitor Phe levels and so on.’

Is there more that can be done to support the patients directly? ‘I hope that we will be able to offer our patients more low-protein products as we think these are important aids to greater adherence. Also, looking to the future I hope that, for some patients, the use oftetrahydrobiopterin (BH4) will become possible. Currently, this is not approved for use in Brazil.’

Lessons to be learnt

There are still some countries that do not have national screening programs. Are there, we asked, lessons to be learnt from the Brazilian program for the decision makers in these countries. ‘The Brazilian Ministry of health took the view that these patients are here and if we treat them early it is not only better for them but also better for society as a whole. So it’s not only about the outcomes for individuals, it is more cost effective to organize things in this way.’

Looking to the future

We have seen a huge increase in the amount of attention IEMs receive over the last few decades. Is this still an exciting field in which to work? ‘I am excited to be working in PKU still. Partly, it is because I like all the aspects of providing treatment. Each patient needs following and requires treatment that is individually managed. There are always new challenges, new things to learn and new rewards. It is also because I like research and this is such a rich field because not only is there so much to learn but thanks to new technologies and tools, we have a greater ability to find answers. Of course, clinical research remains difficult because it is incredibly difficult to perform studies when patient numbers are low.’