Colestilan

Cholesteryl ester storage disease (CESD) is a rare autosomal recessive metabolic disorder resulting from a deficiency of lysosomal acid lipase (LAL). It is characterized by the accumulation of cholesterol esters in various tissues, leading to atherosclerotic diseases or severe hepatic dysfunction in younger individuals. Pregnancy has remained an essential challenge for women with CESD because of the poor prognosis. Enzyme replacement therapy (ERT) using sebelipase alfa, a recombinant form of LAL, is effective in improving lipid profiles and reversing liver dysfunction in patients with CESD. This novel therapy may facilitate safer pregnancy outcomes. This report details the experience of a 30-year-old pregnant woman with CESD who received ERT. Given the absence of CESD complications, colestimide was the only medication administered during pregnancy. The patient had a full-term vaginal delivery with no obstetric complications or fetal congenital anomalies. Following delivery, transient triglycerides, low-density lipoprotein-cholesterol, and liver enzyme increases were observed. However, restarting ERT led to a gradual improvement in the liver function and lipid profile.

Hyperphosphatemia is a potentially life altering condition in end-stage renal disease patients who are on regular hemodialysis that can lead to cardiovascular calcification, metabolic bone disease and secondary hyperparathyroidism. Bile acid sequestrants are anion exchange resins bind to bile acids and phosphate in the intestine resulting in preventing intestinal absorption of dietary phosphate, interruption of bile acid homeostasis and reduction in low-density lipoprotein cholesterol levels. Cholestyramine is chosen for study in hemodialysis patients based on the effectiveness and safety of bile acid sequestrants such colestilan and colestipol in the treatment of hyperphosphatemia and hypercholesterolemia in hemodialysis patients. A prospective, interventional, randomized, double blinded, placebo-controlled two arm study was carried out to assess the efficacy of oral cholestyramine on reduction of serum phosphate level in adult hemodialysis patients. 76 eligible patients were randomly assigned to either a drug group or a placebo group for the 2-month study period. The protocol was approved by the institutional review board of the faculty of pharmacy Ain Shams University Ethical committee and has been registered on ClinicalTrials.gov: NCT05577507. Over the 2-month treatment period, patients in cholestyramine group showed a significant decline in serum phosphorus levels versus placebo group (4.6 mg/dl vs. 6.6 mg/dl; p < 0.001) and serum calcium-phosphorus product (40 mg²/dl² vs. 59.8 mg²/dl²; p < 0.001). Median serum triglyceride and low-density lipoprotein cholesterol levels had decreased significantly versus baseline values in the cholestyramine group. Cholestyramine used with phosphate binders effectively lowers phosphorus levels, improves the lipid profile, and has mild adverse effects.