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Highlights of ESPKU annual meeting 2013

Highlights of ESPKU annual meeting 2013
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)

Resource type

Article

This year’s meeting of the ESPKU took place in Antwerp, Belgium, where over 300 participants, including healthcare professionals, patients and their families, convened to learn about the latest in PKU care, including clinical management, experimental research, and European guidelines development, all integrated within a scientific programme led by well-known international experts in this field.

The conference began with a review of maternal PKU, underlining the importance of its close management, from pre-conception up to the delivery, in order to adequately protect the health of newborns, especially from  mental retardation and the cardiac defects resulting from high phenylalanine (Phe) levels and growth deficit from insufficient protein supply. The optimal target blood Phe levels are 120-360 μmol/l and they should be monitored frequently and dietary therapy adjusted accordingly.

Of special interest was the discussion on the full range of issues related to adult PKU, from daily clinical management up to the real need for a treatment, and including the proof of the neuropsychological impact of the disease at this age. Adult patients should be monitored by specialists in adult metabolic diseases in dedicated centres from the transition age on, with regular evaluation (at least once each year) of their  Phe levels, nutritional status, bone density, and neuropsychological status. BH4 responsiveness should be tested if this has not been done before and in case of a positive response sapropterin could be started. A certain amount of Phe-restriction should be maintained in the diet from the adolescence on in order to avoid behavioral disturbances, social malfunctioning, cognitive impairment, and declining quality of life (QoL). Although higher blood Phe levels are more easily tolerated in adulthood than in children, the impact of the disease on the brain over time may involve precocious aging with repercussions for the elderly.

The main goal of treatment in every disease is to improve QoL, and this is especially true for PKU. Since QoL is not easy to measure, specific questionnaires have been made to evaluate health-related QoL of PKU patients and their family, with a specific focus on the physical, cognitive, psychosocial and emotional domains. Several studies have shown that some aspects of QoL in PKU are altered from normal, especially in children, with less autonomy, negative self-description, social restriction and altered emotivism, even though the patients express opinions that contradict these studies. A periodic evaluation of QoL should be performed to ensure proper implementation of the therapeutic approach of the case.

Dietary adherence in PKU is important for achieving positive outcomes with treatment, and also for limiting the cost of the disease and preserving the safety of patients. There are many reasons for poor adherence, including stress from the restrictive diet, difficulties in managing family and social life, and the impact on the neurocognitive functions from the disease itself. Adherence can be improved by a number of approaches including proper medical education, specific psychological counseling, tailored behavioral programs, and the use of modern technological tools. Working with groups and with families can also improve adherence.

The status of macro- and micronutrients in PKU patients should be periodically monitored since the Phe-restricted diet is a risk factor for possible nutritional deficiencies. In particular, the risk of protein deficiency may arise when adherence to the prescribed diet is poor; while vitamin deficits are rare (except, occasionally vitamin B12)  since they are supplemented in the special PKU food. Zinc and selenium minerals can be lower than normal and should be added in the diet when required.

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