Dermatologic Manifestations of Niemann-Pick Disease Treatment & Management

Updated: Apr 12, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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Medical Care

Therapeutic trials for Niemann-Pick disease (NPD) have had only limited effectiveness. It may be wise to consider anti-inflammatory agents. [26]  Gene therapy may hold promise. [27]

Niemann-Pick disease type A

For Niemann-Pick disease type A patients, currently, no effective treatment exists.

Niemann-Pick disease type B

Bone marrow transplantation has been attempted in a few patients with Niemann-Pick disease type B, and encouraging results are reported. Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B has been described, although the child had persistent graft versus host disease. [28]

Because Niemann-Pick disease type B resembles type 1 Gaucher disease to a considerable degree, one might anticipate that enzyme replacement and, ultimately, gene therapy will eventually be helpful in patients with Niemann-Pick disease type B.

Niemann-Pick disease types C and D

Patients with Niemann-Pick disease type C or D are commonly prescribed a low-cholesterol dietary regimen.

Initial trials of enzyme replacement therapy by means of bone marrow transplantation and somatic gene therapy in ASM-deficient mice have begun. Similar trials may be expected in mice with Niemann-Pick disease type C.

In patients with Niemann-Pick disease type C, cholesterol-lowering agents have some effect on the hepatic storage of lipid but not on the progression of central nervous system disease.

A trial of dietary pectin should perhaps be considered on the basis of a recent report that indicates its ability to activate both lysosomal and plasma membrane sphingomyelinase and to reduce LDL cholesterol levels and sphingomyelin concentrations.



Patients should consult with a geneticist. See Patient Education.



Patients should be on a low-cholesterol diet, and a trial of dietary pectin should be considered. The concomitant use of miglustat and ketogenic dietary therapies with Niemann-Pick disease type C may merit consideration. [29]



Because therapy and suitable screening methods are available for Niemann-Pick disease, newborn screening is possible. [30]