Lipidosis

Lipidosis is a group of inherited enzyme defects that cause storage of abnormal lipid compounds in multiple organs, with severe neurological impairment and death. In some variants with milder evolution, liver transplantation has been attempted.

Gaucher’s disease
This is the most common lysosomal storage disease, caused by an autosomally inherited deficiency of glucocerebrosidase &, and characterized by neurological impairment, hepatosplenomegaly, osteolytic bone lesion and pancytopenia. Three cases of liver transplantation for Gaucher’s disease have been reported in the literature, with controversial results &.

Niemann – Pick disease
These rare familial diseases (autosomal recessive inheritance) are due to a deficiency of sphingomyelinase enzyme in the lysosomes of the reticuloendothelial system. The result is the accumulation of sphyngomyelin in the viscera and in the brain. Diagnosis is made by marrow puncture (Niemann-Pick cells) or by finding a low level of sphigomyelinase in leucocytes. The Type A (acute, neuronopathic form), occurs in infants who usually die before the age of two years. The liver and the spleen are enlarged. The patient is blind, deaf and mentally retarded. The Type B (chronic, non neuronophatic form) is associated with neonatal cholestasis. Cirrhosis develops slowly and leads to hepatic failure. The Type C appears to be a disorder of cholesterol transport. Liver is involved and supranuclear vertical ophtalmoplegia is characteristic &. Liver transplantation was attempted but is not considered viable because the extra hepatic manifestations will not be cured &.

Wolman’s disease
Wolman’s disease is caused by the lysosomial acid lipase deficiency that leads to the accumulation of abnormal lipids within the intestinal mucosa, vascular endothelium, lymph nodes, spleen, liver leukocytes and bone marrow &. The inheritance is autosomal recessive. The patients develop hepatosplenomegaly. Liver transplantation alone is not currently advocated because the metabolic defect is widespread, even if combined bone marrow and liver transplantation has been proposed &.

Cholesterol ester storage disease
Cholesterol ester storage disease is an acid lipase deficiency that in same cases can cause progressive liver fibrosis and portal hypertension &. Liver transplantation has been successfully performed to treat life-threatening variceal bleeding &.