RESUMO
Glycogen storage disease type 1A (GSD1A), also known as Von Gierke's disease, is a rare autosomal recessive disorder affecting glycogen metabolism in the liver. It most commonly presents in infancy with hypoglycaemia and failure to thrive, but cases have been reported as undiagnosed until adulthood. A woman in her early 20s with diabetes mellitus presented with right upper quadrant pain and was found to have several haemorrhagic hepatic adenomas. This patient had insulin-dependent diabetes since a pancreatectomy at age 9 months due to continued episodes of hypoglycaemia and suspected insulinoma. During the hospital stay, the hepatic adenomas were embolised, but significant lactic acidosis and hypoglycaemia continued. Further workup revealed a chronic lactic acid level, during several hospital stays, of above 5 mmol/L. After cytology of hepatic tissue ruled out hepatocellular carcinoma, the patient was discharged and recommended to follow-up for genetic testing, which confirmed the diagnosis of GSD1A.
Assuntos
Hiperinsulinismo Congênito , Doença de Depósito de Glicogênio Tipo I , Neoplasias Hepáticas , Humanos , Feminino , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/diagnóstico , Hiperinsulinismo Congênito/genética , Hiperinsulinismo Congênito/diagnóstico , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/genética , Doença de Depósito de Glicogênio Tipo I/diagnóstico , Adulto , Adenoma de Células Hepáticas/genética , Adenoma de Células Hepáticas/diagnóstico , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/genética , Adulto Jovem , Adenoma/genética , Adenoma/diagnóstico , Adenoma/complicações , Adenoma/cirurgia , Diagnóstico DiferencialRESUMO
Immune checkpoint inhibitors (ICIs) have reshaped and have become a well-established treatment modality for multiple advanced-stage malignancies. ICIs block the immune system regulatory checkpoints, namely CTLA-4 and PD-1/PDL1, which provokes excess immune response against self-antigens. Immune modulation with ICIs can result in diverse immune-related adverse events targeting organ systems. Several cases of ICI-related cardiotoxicity were reported, while the actual incidence was likely underestimated due to heterogeneous clinical presentation. These include, but are not limited to, myocarditis, pericarditis, atherosclerosis, and arrhythmia. EKG, Troponin, Echocardiogram (TTE), and Cardiac MRI (CMRI) are indispensable diagnostic tools to aid in the management of cardiac adverse effects. Herein, we review the ICI-mediated cardiovascular adverse events, diagnosis, treatment strategies, and reintroduction of ICIs post-cardiotoxicity.
