IllnessMorbus Wolman, differential diagnosis

NGS +

Lysosomal acid lipase deficiency is a hereditary disease characterized by impaired lipid metabolism. Lipids accumulate in the cells of the organism, leading, among other things, to liver afflictions. In the severe, early-onset form (Wolman's disease), lipid accumulation occurs within the first weeks of life, with hepatosplenomegaly, jaundice, steatorrhea and malabsorption, later cirrhosis and multiple organ failure, with survival rarely exceeding the first year year. In the later-onset form (cholesterol ester storage disease), symptoms vary and usually begin in middle childhood with hepatosplenomegaly, liver fibrosis or cirrhosis. Individuals with this form may have elevated serum levels of liver enzymes and high cholesterol as well as atherosclerosis. Both disorders have the same genetic cause, mutations in the LIPA gene. The severity of the disease depends on how much (residual) enzyme activity is present. The inability of the organism to produce cholesterol from the breakdown of lipids leads to increased alternative methods of cholesterol production and to higher than average blood cholesterol levels. Lysosomal acid lipase deficiency is inherited in an autosomal recessive manner; more than 120 mutations are known, but the diagnostic yield is unclear. Enzyme replacement therapy with sebelipase alfa has been established.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK305870/

• Alias: Cholesterol ester hydrolase deficiency (LIPA)
• Alias: Cholesteryl ester storage disease [CESD] (LIPA)
• Alias: LIPA deficiency [LAL deficiency] (LIPA)
• Alias: Lysosomale saure Lipase-Defizienz (LIPA)
• Allelic: Hypobetalipoproteinemia (APOB)
• Allelic: LDL cholesterol level QTL2 (LDLR)
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: Low density lipoprotein cholesterol level QTL 1 (PCSK9)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Polyglucosan body disease, adult form (GBE)
• GM1-gangliosidosis, type I, II + III (GLB1)
• Gaucher disease, perinatal lethal (GBA)
• Gaucher disease, type I, II, III, IIIC (GBA)
• Glycogen storage disease II (GAA)
• Glycogen storage disease IIIa + IIIb (AGL)
• Glycogen storage disease IV (GBE)
• Glycogen storage disease Ia (G6PC1)
• Glycogen storage disease Ib (SLC37A4)
• Glycogen storage disease Ic (SLC37A4)
• Glycogen storage disease VI (PYGL)
• Hypercholesterolemia, familial, 1 (LDLR)
• Hypercholesterolemia, familial, 2 (APOB)
• Hypercholesterolemia, familial, 3 (PCSK9)
• Hypercholesterolemia, familial, 4 (LDLRAP1)
• McArdle disease (PYGM)
• Mucolipidosis II + III alpha/beta (GNPTAB)
• Mucopolysaccharidosis II (IDS)
• Mucopolysaccharidosis IVA (GALNS)
• Mucopolysaccharidosis Ih (IDUA)
• Mucopolysaccharidosis Ih/s (IDUA)
• Mucopolysaccharidosis Is (IDUA)
• Mucopolysaccharidosis type IVB [Morquio] (GLB1)
• Niemann-Pick disease, type A + B (SMPD1)