4,000 compatriots who have to follow a low-protein diet suffer from it. Global care and psychological support are essential. Pharmacological treatments available
Circa 4.000 Italians suffer from
phenylchetonuria (PKU) rare hereditary disease which limits the body’s ability to metabolize protein foods, especially those containing phenylalanine. They must follow a strict diet as their body is not able to metabolize protein foods, especially those containing phenylalanine that,
if accumulated
can lead over time to toxic effects affecting neurological capacitytaunting strongly disabling neuro-cognitive and behavioral disorders. But what are the aspects that have the greatest impact on patients’ quality of life and what can be done to improve them? From a recent survey, coordinated by the pediatrician Valentina Rovelli and the psychologist and psychotherapist Chiara Cazzorla, the importance of global management of the person, even at a psychological level, paying particular attention to the clinical situation of each patient so as to identify the most suitable solution, also making the most of the therapeutic innovations that research makes available.
Mandatory newborn screening
Dal 1992 obligatory in our country it is newborn screening for phenylketonuria, which has allowed the early diagnosis of the disease and therefore the inclusion of patients in the correct treatment path. But there are still many people, born before that datewho have received a late diagnosis and therefore they started the diet late.
From the survey carried out by the IXE Institute on a sample of 241 patients and caregivers, with the contribution of BioMarin, it emerges that the most common symptoms among those suffering from PKU areagitation and theanxietywhich affects almost half of the respondents, followed by physical tiredness e mood swings;
about the
n out of three patients suffer from difficulty paying attention and remembering, headache/headache;
one in four people suffer from irritable and two out of ten of tremors.
Psychological support
PKU is a complex disease that can affect significantly on
emotional, social and behavioral dimensions of patients
who are affected by it and their families – explains Chiara Cazzorla, psychologist and psychotherapist of the Complex Operational Unit of Hereditary Metabolic Diseases – Regional Center for Expanded Metabolic Neonatal Screening of the Padua Hospital -. Despite a general cognitive efficiency comparable to healthy subjects, thanks to newborn screening, patients they may present some alterations from a psychological and emotional point of view. The complexity of diet therapy as well as the impact of the pathology can generate significant emotional discomfort in both caregivers and patients, a significant sense of helplessness, as well as frequent difficulties in social relationships.
Hence the importance of psychological care of the patient and his family. fundamental in the treatment of a chronic condition, such as phenylketonuria, to ensure a
effective long-term therapeutic relationship underlines Cazzorla.
Therapy
80% of sufferers manage PKU with one diet, but only 2 out of 10 adults are able to follow the low phenylalanine diet perfectly, while over half say they follow it but not perfectly. Observing the prescribed diet is simpler for pediatric patients, as they are followed by their parents.
Currently the primary therapy for this rare disease consists of a rigid low protein dietassociated withintegration of synthetic amino acids and vitamins, which has a strong impact on the quality of life of patients says Valentina Rovelli, pediatrician at the Pediatric Clinic of the San Paolo-ASST Santi Paolo e Carlo – University of Milan. The survey shows that only one in four patients know they exist drug treatments. Dr. Rovelli explains: In some cases possible associate pharmacological support to the dietary intervention, consisting of the cofactor of the enzyme malfunctioning in the disease, via oral therapy. A new drug (subcutaneously) has recently been approved that can significantly reduce phenylalanine values: available for patients from 16 years of age
c
on uncontrolled values of Phe despite treatment with available treatment options.
December 23, 2022 (change December 23, 2022 | 1:48 pm)
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