Manejo perioperatorio de una mujer portadora del gen de la adrenoleucodistrofia ligada al X para artroscopia de hombro / Perioperative management of a female diagnosed with heterozygous X-linked adrenoleukodystrophy scheduled for shoulder arthroscopy

La adrenoleucodistrofia ligada al cromosoma X (ALD-X) pertenece al grupo de enfermedades raras debidas a errores congénitos del metabolismo. Clínicamente, presenta diferentes manifestaciones que el anestesiólogo debe tener en cuenta durante el perioperatorio (disfunción respiratoria, hipotonía, insuficiencia suprarrenal o hepática, reflujo gastroesofágico, osteopenia, crisis epilépticas). Se presenta el caso de una mujer de 42 años portadora del gen que fue sometida a anestesia general combinada para artroscopia de hombro. Se hizo bloqueo ecoguiado del plexo braquial a nivel interescalénico, inducción anestésica con tiopental y fentanilo, y mantenimiento con sevofluorano. El procedimiento transcurrió sin incidencias, la evolución postoperatoria fue favorable y la paciente fue dada de alta a domicilio

X-linked adrenoleukodystrophy (X-ALD) belongs to a family of rare diseases due to inborn errors of metabolism. It has a wide spectrum of clinical manifestations that anaesthesiologists should recognise during the perioperative period (respiratory centre dysfunction, hypotonia, adrenal or hepatic failure, gastroesophageal reflux disease, osteopenia, seizures).The case is presented of a 42-year-old X-linked adrenoleukodystrophy female carrier, who underwent combined general and an ultrasound-guided interscalene brachial plexus block anaesthesia for shoulder arthroscopy. Induction was performed with thiopentone and fentanyl, and sevoflurane was used as inhaled maintenance agent. No events were recorded during the procedure. Her post-operative recovery was satisfactory and she was later discharged home

Perioperative management of a female diagnosed with heterozygous X-linked adrenoleukodystrophy scheduled for shoulder arthroscopy. / Manejo perioperatorio de una mujer portadora del gen de la adrenoleucodistrofia ligada al X para artroscopia de hombro.

X-linked adrenoleukodystrophy (X-ALD) belongs to a family of rare diseases due to inborn errors of metabolism. It has a wide spectrum of clinical manifestations that anaesthesiologists should recognise during the perioperative period (respiratory centre dysfunction, hypotonia, adrenal or hepatic failure, gastroesophageal reflux disease, osteopenia, seizures).The case is presented of a 42-year-old X-linked adrenoleukodystrophy female carrier, who underwent combined general and an ultrasound-guided interscalene brachial plexus block anaesthesia for shoulder arthroscopy. Induction was performed with thiopentone and fentanyl, and sevoflurane was used as inhaled maintenance agent. No events were recorded during the procedure. Her post-operative recovery was satisfactory and she was later discharged home.

Hallazgo inusual en la valoración de la vía aérea / Unusual finding in the assessment of the airway

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Manejo perioperatorio del trasplante hepático en la polineuropatía amiloidótica familiar con afectación cardíaca / Perioperative management for liver transplant in a patient with familial amyloid polyneuropathy with heart involvement

La polineuropatía amiloidótica familiar (PAF) es una amiloidosis sistémica causada por la mutación de la transtirretina. La amiloidosis cardíaca, el determinante pronóstico principal de la amiloidosis sistémica, se caracteriza por infiltración del miocardio, dando lugar a cardiomiopatía y alteraciones de la conducción. El trasplante hepático es la única opción curativa para los pacientes afectos de PAF. Presentamos el caso de un paciente de 36 años con PAF tipo i con afectación cardíaca propuesto para cirugía de trasplante hepático, la cual fue llevada a cabo con éxito sin eventos perioperatorios de interés (AU)

Familial amyloid polyneuropathy (FAP) is a systemic amyloidosis caused by mutated transthyretin. Cardiac amyloidosis, the major prognostic determinant in systemic amyloidosis, is characterized by infiltration of the myocardium, leading to cardiomyopathy and conduction disturbances. Liver transplantation is the only curative option for patients with FAP. The case is presented of a 36-year-old patient with type i FAP with cardiac involvement, proposed for liver transplant surgery, which was successfully performed without any preoperative event of interest (AU)

[Perioperative management for liver transplant in a patient with familial amyloid polyneuropathy with heart involvement]. / Manejo perioperatorio del trasplante hepático en la polineuropatía amiloidótica familiar con afectación cardíaca.

Familial amyloid polyneuropathy (FAP) is a systemic amyloidosis caused by mutated transthyretin. Cardiac amyloidosis, the major prognostic determinant in systemic amyloidosis, is characterized by infiltration of the myocardium, leading to cardiomyopathy and conduction disturbances. Liver transplantation is the only curative option for patients with FAP. The case is presented of a 36-year-old patient with type i FAP with cardiac involvement, proposed for liver transplant surgery, which was successfully performed without any preoperative event of interest.

Introduction of fibrinogen in the treatment of hemostatic disorders during orthotopic liver transplantation: implications in the use of allogenic blood.

BACKGROUND: Orthotopic liver transplantation (OLT) requires a large amount of blood-derived resources. The indications for their availability in the surgery area is based on empirical protocols. The implementation of point-of-care apparatuses gives rise to the detection of hemostatic alterations due to functional deficits of fibrinogen. METHODS: To monitor coagulation disorders and other biochemical parameters, we used thromboelastometry (ROTEM®) and a MovlLab® unit, respectively. We evaluated the stability and firmness of the clot based on fibrin (FibTem test). The measurements were performed during all of the liver transplant stages: baseline, anhepatic, and reperfusion. Fibrinogen (hemocompletan) was administered to achieve maximum clot firmness, based on patient weight and the existence of surgical bleeding. This pilot cohort of 20 transplant patients (group B) compared outcomes with the 59 patients from the previous year (group A). RESULTS: Haemocompletan was administered to 45% of the 20 patients. The ratio of red blood cell components per patient diminished from 8.4 to 3.9 (53% reduction) and, fresh frozen plasma from 5.6 to 1.9 (65% reduction). Transfusions of platelet concentrates decreased by 50% with a ratio of 1.5-0.7 per patient. Likewise, 20% of transplant patients received no transfusions of blood products compared with 3.5% in the previous period. CONCLUSION: The incorporation of fibrinogen into the treatment of hemostatic disorders in OLT leads to a reduced use of allogenic blood products. We observed reduced number of patients who received transfusions, while those who underwent transfusion did so to a lesser degree.