L’Istituto Magi lancia la ‘casa per le obesità genetiche’
E’ stata avviata dall’Istituto di Genetica Magi una task force nazionale per le obesità ereditarie. Si tratta di specialisti che avranno la posibilità di riunirsi nella Residenza Sanitaria Sperimentale di San Felice del Benaco (Brescia), una sorta di “casa degli obesi ereditari”, in cui si prevede la piena presa in carico dei pazienti, nonchè la loro partecipazione a eventuali trial.
Queste, in estrema sintesi, le conclusioni di una conferenza stampa che si è tenuta oggi a Roma. Fin dai primi anni di vita manifestano
grande appetito e crescita eccessiva e in poco tempo diventano dei “piccoli grandi obesi”: una condizione che li accompagnerà
per tutta la vita.
La loro obesità resiste alle diete più estenuanti e alla chirurgia bariatrica. La chiave del problema è nei geni: si tratta, infatti, di malattie rare che possono riassumersi nelle cosiddette “obesità genetiche ereditarie non sindromiche”. Di queste patologie si è parlato questa mattina alla Camera dei Deputati.
L’incontro è stato organizzato dall’Istituto di Genetica non profit MAGI, guidato da Matteo Bertelli, che ha uno dei pochi laboratori in Italia capaci di diagnosticare queste malattie (deficit di Melacortina 4, deficit congenito di leptina e deficit dei recettori della leptina). MAGI ha recentemente avviato una serie di collaborazioni con il mondo scientifico per creare in Italia un network di specialisti che sia in grado di affrontarle.
“Fare i test diagnostici è stato il primo passo – ha spiegato Bertelli – perchè i laboratori esistenti non potevano rispondere a tutte le esigenze. La diagnosi certa è sempre più indispensabile ora che l’approccio alle cure passa per la farmacogenomica. Ci siamo poi resi conto, facendo il test, dei pochi servizi che questi pazienti hanno e così abbiamo deciso di mettere in rete gli specialisti che se ne occupano cioè pochissimi”.
“Le cause dell’obesità possono essere tante – ha sottolineato Giuseppe Pompucci del Dipartimento di biologia molecolare dell’Universita’ di Siena – uno stile di vita errato, un disturbo della tiroide o una malattia genetica. In base alla causa dobbiamo costruire la risposta adeguata ed evitare cure sbagliate o dannose. Le armi che abbiamo a disposizione sono dieta, movimento, terapia comportamentale, farmaci e anche la chirurgia: quando parliamo di grandi obesi spesso queste vanno usate tutte o quasi tutte, ma nel giusto mix. Nel caso delle obesità genetiche, per esempio, sappiamo che dieta e movimento non bastano. Se siamo di fronte ad un deficit di leptina dovremo introdurla, peraltro, oggi la molecola è ancora sperimentale ma facilmente accessibile. Possiamo anche valutare la chirurgia bariatrica ma se la causa è genetica e non si segue dopo una specifica terapia c’è il rischio di riprendere tutto il peso”.
Secondo gli esperti, serve dunque una maggiore attenzione alla diagnosi per affrontare al meglio la malattia, ma anche strutture in grado di offrire ai pazienti una presa in carico complessa. Un posto dove possa esserci confronto tra gli specialisti, incontri tra i pazienti, e dove fare anche i trial
. Una “casa per le obesità genetiche” è proprio quello che sta creando MAGI nella Residenza Sanitaria Sperimentale di San Felice del Benaco (Brescia) (www.residenzialelamargherita.it), un albergo privato che è stato donato a MAGI e che dovrebbe essere operativo, nella nuova destinazione, in tempi brevi. Qui verranno ospitate delle vere e proprie task force per gruppi omogenei di patologie.
“Ci saranno dei periodi – ha spiegato ancora Bertelli – in cui avremo i maggiori esperti della patologia e i bimbi che saranno nella residenza potranno avere la migliore riabilitazione e le più moderne terapie, anche sperimentali”. Tutto questo è possibile grazie ad una rete di solide alleanze che MAGI ha sviluppato nel corso degli anni.
Di particolare rilievo per quanto riguarda le terapie e la riabilitazione delle obesità genetiche sono le collaborazioni con l’Ospedale San Giovanni Battista di Roma, con l’Unità Dama dell’Ospedale San Paolo di Milano e con la Fondazione Mimmo Castorina per la disabilità
grave, oltre che con singoli specialisti.
“Al San Giovanni Battista – ha spiegato Sandro Michelini Direttore U.O. riabilitazione malattie rare del sistema vascolare e linfatico – lavoriamo da tempo con MAGI sul linfedema, una malattia che colpisce anche i grandi obesi, e abbiamo apprezzato molto la volontà di dedicarsi a questo tema. Oggi questi pazienti hanno difficoltà a trovare assistenza e avere una residenza sanitaria è un’esigenza reale. Sono pazienti che convivono con il dolore provocato dall’incredibile sviluppo dei tessuti molli o dallo sfregamento meccanico della pelle quando devono muoversi, possono avere problemi circolatori e di respirazione, le diete falliscono e la depressione è sempre in agguato, hanno bisogno di un approccio globale. Col caldo poi tutto peggiora”.
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