Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and secondary metabolic perturbations. Good glycaemic/metabolic control through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventing hypoglycaemia and long-term complications. Dietary treatment has improved the prognosis for patients with GSDIa; however, the disease itself, its management and monitoring have significant physical, psychological and psychosocial burden on individuals and parents/caregivers. Hypoglycaemia risk persists if a single dose of UCCS is delayed/missed or in cases of gastrointestinal intolerance. UCCS therapy is imprecise, does not treat the cause of disease, may trigger secondary metabolic manifestations and may not prevent long-term complications. We review the importance of and challenges associated with achieving good glycaemic/metabolic control in individuals with GSDIa and how this should be balanced with age-specific psychosocial development towards independence, management of anxiety and preservation of quality of life (QoL). The unmet need for treatment strategies that address the cause of disease, restore glucose homeostasis, reduce the risk of hypoglycaemia/secondary metabolic perturbations and improve QoL is also discussed.

Sobretratamiento antihipertensivo en mayores de 80 años / Antihypertensive overtreatment in people 80 years old and older

Fundamento y objetivo: Estudiar la proporción de pacientes mayores de 80 años con hipertensión arterial y sobretratamiento farmacológico. Pacientes y métodos: Estudio de simulación, descriptivo transversal, incluyendo 281 pacientes mayores de 80 años de prevención primaria, seleccionados aleatoriamente, con buen control (presión arterial sistólica<150mmHg, presión arterial diastólica<90mmHg), tratados con 3 principios activos como máximo. Se consideró sobretratamiento si se podía retirar al menos un principio activo y persistía el buen control, calculando cuánto subiría la presión con el metaanálisis de Law, que estima las reducciones de presión arterial según pretratamiento, número y dosis del principio activo. Resultados: La edad media fue de 85,3 años (64,8% mujeres). Tomaban un principio activo el 33,6%, 2 el 46,3% y 3 el 22,1%, siendo los más prescritos tiazidas (69,4%), IECA (51,3%), ARA-II(23,4%), antagonistas del calcio (21%) y betabloqueantes (19,6%). El sobretratamiento fue del 90,7%, pudiéndose retirar 2 principios activos en un 63,1% y 3 en el 43,1%. La polifarmacia (OR 2,47; IC 95% 1,07-5,69; p=0,033) se asoció a una probable retirada de al menos un principio activo. Conclusiones: La proporción de pacientes con sobretratamiento es elevada. El cambio de criterios de control puede contribuir a una deprescripción razonada (AU)

Background and objective: To study the proportion of patients older than 80 years old with hypertension and pharmacological overtreatment. Patients and methods: Cross-sectional simulation study, including 281 patients older than 80 years old of primary prevention, randomly selected, with good control of hypertension (systolic blood pressure<150mmHg, diastolic blood pressure<90mmHg), treated with a maximum of 3 medications. Overtreatment was considered if at least one medication could be removed and good control persisted, calculating how the blood pressure would raise with Law's meta-analysis, which estimates blood pressure reductions by pre-treatment levels, number and dose of medications. Results: The average age was 85.3 years (64.8% women). A percentage of 33.6 were taking one medication, 46.3% 2 and 22.1% 3, with the most prescribed being thiazides (69.4%), ACE inhibitors (51.3%), ARBs (23.4%), calcium antagonists (21%) and beta blockers (19.6%). Overtreatment was 90.7%, with 2 medications being able to be removed in 63.1% of cases and 3 in 43.1%. Polypharmacy (OR 2.47; 95% CI 1.07-5.69; P=.033) was associated with a greater likely removal of at least one medication. Conclusions: The proportion of patients with overtreatment is high. Changing good control criteria could contribute to a reasoned deprescription (AU)

Antihypertensive overtreatment in people 80 years old and older. / Sobretratamiento antihipertensivo en mayores de 80 años.

BACKGROUND AND OBJECTIVE: To study the proportion of patients older than 80 years old with hypertension and pharmacological overtreatment. PATIENTS AND METHODS: Cross-sectional simulation study, including 281 patients older than 80 years old of primary prevention, randomly selected, with good control of hypertension (systolic blood pressure<150mmHg, diastolic blood pressure<90mmHg), treated with a maximum of 3 medications. Overtreatment was considered if at least one medication could be removed and good control persisted, calculating how the blood pressure would raise with Law's meta-analysis, which estimates blood pressure reductions by pre-treatment levels, number and dose of medications. RESULTS: The average age was 85.3 years (64.8% women). A percentage of 33.6 were taking one medication, 46.3% 2 and 22.1% 3, with the most prescribed being thiazides (69.4%), ACE inhibitors (51.3%), ARBs (23.4%), calcium antagonists (21%) and beta blockers (19.6%). Overtreatment was 90.7%, with 2 medications being able to be removed in 63.1% of cases and 3 in 43.1%. Polypharmacy (OR 2.47; 95% CI 1.07-5.69; P=.033) was associated with a greater likely removal of at least one medication. CONCLUSIONS: The proportion of patients with overtreatment is high. Changing good control criteria could contribute to a reasoned deprescription.