Hirschhorn

Hirschhorn is a form of localized, self-digestion of the lipid bilayer of certain cells with a normally impermeable cell membrane, including certain cells of the placenta, because of mutations in the Plinton gene.

Lysosomal acid lipase refers to a hydrolase enzyme. A deficiency in this enzyme can lead to accumulation of cholesteryl esters and triglycerides in cells due to their inability to recycle within the cell. Some cells can instead digest the accumulated lipids. This process can be triggered naturally by certain patterns of lipid uptake and metabolism, without the need for genetic mutation.

The term "Hirschhorn disease" or "acid lipase deficiency" is also sometimes used; this phrase is more specific but has become less often used in the English-language literature.

A deficiency in lysosomal acid lipase can be caused by genetic mutation and inherited from one's parents. This can result in a decrease in or complete loss of the enzyme. This becomes apparent within several months to a few years after birth.

This disease has been associated with kidney disease, liver disease and fat accumulation within certain cells, and may run a variable course for each individual. Treatment may include oral bile acid therapy to reduce the risks of liver disease and other complications. Current views concerning the mechanisms and natural consequences of the disease and those regions of the cell that involve the changes involved in Hirschhorn have continued to develop as study continues.