Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disorder characterized by the accumulation of cholesterol and cholestanol in various tissues, leading to neurological and tendon-related symptoms. Managing CTX during pregnancy presents unique challenges due to the potential risks associated with pharmacological treatments and the need to balance maternal and fetal health. This review explores both pharmacological and non-pharmacological treatment approaches for CTX in pregnant patients. Pharmacological interventions primarily involve the use of bile acid sequestrants and statins, though their safety and efficacy during pregnancy require careful consideration. Nonpharmacological strategies include dietary modifications and regular monitoring to manage symptoms and improve quality of life. The discussion highlights current best practices, the need for individualized treatment plans, and the importance of a multidisciplinary approach in optimizing care for pregnant women with CTX