RV/D-001 - LYSOSOMAL ACID LIPASE DEFICIENCY (LAL-D): REPORT OF NEW FOUR SPANISH UNRELATED CASES
1Medicina Interna. Hospital Virgen de la Victoria. Málaga. 2Medicina Interna. Hospital de San Pedro. Logroño (La Rioja). 3Medicina Interna. Hospital Universitari de Sant Joan de Reus. Reus (Tarragona). 4Pediatra, 5Endocrinología. Hospital de Terrassa. Terrassa (Barcelona).
Objectives: To show Clínical, analytical, genetic, treatment and state of liver data of 4 unrelated cases of CESD.
Material and methods: We report cases of LAL deficiency included in the Registry of Dyslipemias of the Spanish Arteriosclerosis Society. We recorded demographic, anthropometric, familial, Clínical, treatment and state of liver data as well as the activity of LAL and the mutation found in the molecular analyses.
Results: Four patients followed in Lipid Units for hypercholesterolemia were found to have LAL-D. All of them have mild elevation of ALT and AST and three of them have liver steatosis (ultrasonography or hepatic RNM). Two patients underwent a liver biopsy. The degree of fibrosis ranged from F1 to F4. No cirrhosis was present. Only one patient suffered from coronary and valvular heart disease. Baseline LDL cholesterol ranged from 198 to 305 mg/dL and under lipid-lowering drugs in three patients dropped to 96-125 mg/dL. LAL activity was almost undetectable in all patients (< 0.02 nmol/punch/hour). Age at diagnosis, genre, mutations found, treatment, and state of liver (steatosis Ultrasound, RMN, fibroscan, yes or not cirrhosis, biopsy realized or no, and level of transaminases) are summarized in the table.
Conclusions: Our data confirms the notion that LAL-D is found in cohorts of patients with Polygenic or Familial Hypercholesterolemia and should be taken into account in the differential diagnosis.
