Abstract
Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the longterm complications observed in this disease. To identify and hierarchize initial clinical signs of CTX to establish an early diagnostic suspicion index. Clinical information was collected from 387 patients diagnosed with CTX, published in MEDLINE between 1968 and 2016. Clinical manifestations were identified, determining their prevalence and age of onset. Sensitivity, specificity and the positive Likelihood ratio (LR+) was calculated for each clinical sign evaluated. The average ages for early symptoms' onset and CTX diagnosis were 13.3 ± 10.6 years and 34.6 ± 12.6 years respectively. The early clinical signs and their respective LR+ were: juvenile cataracts (143), epilepsy (81), chronic diarrhea (15.6) and psychomotor development delay (3.4). The presence of consanguinity among parents resulted in a LR+ of 31. The combination of two early signs increased the post-test probability to 30%. If the early diagnostic criteria would have been applied in three Chilean patients with diagnosis of CTX, their disease would have been diagnosed from 12 to 25 years earlier. The use of a hierarchical system of predictive clinical signs allows an early screening of CTX, which may avoid the natural progression of the disease using an appropriate treatment.
Highlights
an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis
reduce the longterm complications observed in this disease
Clinical information was collected from 387 patients diagnosed with
Summary
Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. La xantomatosis cerebrotendinosa (XCT) es una enfermedad genética rara del metabolismo de los ácidos biliares, de carácter autosómico recesivo, producida por mutaciones en el gen CYP27A1, que codifica para la enzima mitocondrial 27-esterol hidroxilasa[1,2]. El diagnóstico de la xantomatosis cerebrotendinosa se basa en la sospecha clínica ante la presencia de 2 de los 4 signos descritos como cardinales[13] y que se presentan en forma progresiva en el tiempo: 1) diarrea crónica en la infancia; 2) cataratas juveniles; 3) xantomas tendíneos y 4) síntomas neurológicos. Los objetivos de este trabajo son determinar y jerarquizar los primeros signos de aparición de xantomatosis cerebrotendinosa para establecer una sospecha diagnóstica precoz que permita un tratamiento apropiado de la enfermedad
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