🔬 Be careful with confusion! 🔍
Acid Lipase Deficiency (LAL-D) since high LDL is found in both; however, in FH, hepatosplenomegaly is not observed. FH is inherited in an autosomal co-dominant manner while LAL-D is inherited in an autosomal recessive manner.
💡LAL-D is an enzymatic disorder that makes it difficult to break down fats, while HF is a genetic condition that causes elevated cholesterol levels.In any child or adult with suspected heterozygous FH, late-onset LAL-D should be considered as a differential diagnosis.

Both can increase the risk of heart disease, among others, so early detection and proper treatment is essential.

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In addition, patient associations that represent these diseases can provide great support to affected families. You are not alone in this fight!💪

The association the Asociació Catalana d’Hipercolesterolèmia Familiar (ASCAHIFA) has recently been created, do not hesitate to contact them if you have questions!