Wilson's Disease Management Quiz

Management of Wilson's Disease

The goal of treatment is to attain negative copper balance and remove copper from damaged sites in the liver and central nervous system.
Patients should modify their diet to avoid intake of water and foods with high concentrations of copper, especially during the first year of treatment.
Medical treatment should be initiated as soon as possible, ideally at diagnosis, and can involve chelating agents (penicillamine or trientine) or zinc salts.
Zinc therapy is preferred for asymptomatic children due to decreased side effects.
Orthotopic liver transplant is not recommended for neurologic outcomes but may be considered for acute liver failure.
Therapeutic plasma exchange (TPE) can be considered as a bridge to liver transplant for decompensated cirrhosis.
Treatment during pregnancy should be continued, and the dose of D-penicillamine and trientine should be lowered to the lowest effective dose.
Medical treatment is lifelong and should not be discontinued unless liver transplant is performed.
Routine follow-up monitoring should include testing twice per year and once per year for urinary copper excretion on medication and after 2 days off medication.
D-penicillamine and trientine can be used for symptomatic patients, with dosing and administration instructions.
Zinc salts can be used for neurological disease as either first-line or maintenance therapy, with dosing and administration instructions.
Vitamin E levels are reported to be low in patients with Wilson's disease.Management and Treatment Options for Wilson Disease
Ammonium tetrathiomolybdate is an experimental treatment that may reduce circulating free copper causing neurological damage.
Tetrathiomolybdate may be more effective than trientine for preserving neurologic function in patients with Wilson disease.
Other therapies for specific neurological symptoms include anticholinergics, baclofen, botulinum toxin injections, primidone, propranolol, levodopa, tetrabenazine, physical therapy, speech therapy, and percutaneous endoscopic gastrostomy (PEG) tubes as a temporary option.
Orthotopic liver transplantation is reserved for patients with Wilson disease who cannot tolerate or are unsuccessful on medication therapy.
Urgent liver transplant is recommended for Wilsonian acute liver failure and decompensated cirrhosis due to Wilson disease unresponsive to medical therapy.
Liver transplant is not recommended as therapy for neuropsychological Wilson disease, as it does not reliably improve neurologic outcomes.
Liver transplant is associated with high rates of survival in adults and children with Wilson disease and chronic liver disease or fulminant hepatic failure.
Molecular absorption recirculating system (MARS) and therapeutic plasma exchange (TPE) are options for rapid removal of free serum copper in acute liver failure.
Consultation and referral may include a dietician for patients with special dietary needs, a neurologist for patients with neurologic symptoms, and genetic counseling for young adults who have Wilson disease, are carriers, or are at risk of being carriers.
Safe contraceptive choices for women with Wilson disease include barrier contraceptives, spermicide, copper-free intrauterine devices, and progesterone-only contraception.
Experimental therapies aimed at restoration of hepatobiliary copper excretion include hepatocyte transplant, stem cell transplant, and gene therapy.
Follow-up testing should include serum copper and ceruloplasmin, liver enzymes, INR, functional parameters, complete blood count, urine analysis, physical and neurological examinations, 24-hour urinary copper excretion on medication and after 2 days off therapy, and estimated serum non-ceruloplasmin-bound copper.

Leucemia linfoblástica aguda en adultos: características genéticas y diagnóstico

La leucemia linfoblástica aguda (LLA) es un tipo de cáncer muy maligno que se caracteriza por la presencia de demasiados linfoblastos o linfocitos en la médula ósea y la sangre periférica.
La LLA puede diseminarse a los ganglios linfáticos, el bazo, el hígado, el sistema nervioso central (SNC), los testículos y otros órganos.
Los signos y síntomas de LLA incluyen pancitopenia, hiperleucocitosis, indicios de infección activa, entre otros.
La LLA se presenta tanto en niños como en adultos, siendo el tipo de cáncer más común en los niños.
El tratamiento de la LLA en niños produce una buena probabilidad de curación, mientras que en adultos el pronóstico no es tan optimista.
Algunos pacientes con LLA tienen una anomalía citogenética que se asemeja al cromosoma Filadelfia (Ph1).
El gen de fusión BCR-ABL, que caracteriza el Ph1, puede ser detectable mediante hibridación fluorescente in situ (FISH) o reacción en cadena de la polimerasa con retrotranscripción (RCP-RT).
La LLA L3 está relacionada con una variedad de translocaciones que incluye la translocación del protooncogén c-myc al locus del gen de inmunoglobulina t(2;8), t(8;12) y t(8;22).
La evaluación diagnóstica inicial de LLA incluye pruebas de recuento sanguíneo completo con diferencial, panel químico, fibrinógenos y pruebas de coagulación, evaluación detenida en busca de indicios de infección activa, entre otras.
La biopsia de médula ósea y aspirados se lleva a cabo para determinar la extensión del compromiso medular y para caracterizar los antígenos que definen la expresión de linaje.
La citometría de flujo se debe llevar a cabo para permitir la determinación de los subtipos específicos de la LLA.
El diagnóstico adecuado de la LLA es esencial debido a las diferencias en el pronóstico y el tratamiento entre la LLA y la leucemia mielocítica aguda (LMA).