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.

Consultations

Patients should consult with a geneticist. See Patient Education.

Diet

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]

Prevention

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

Medication

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Media Gallery

Autosomal recessive inheritance pattern.

of 1

Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Coauthor(s)

Santiago A Centurion, MD Dermatologist, Dermatology Associates of Central NJ

Santiago A Centurion, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, American Society of Dermatopathology, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Acknowledgements

Naomi Bartnoff, a distinguished colleague with inherent grace and compassion who was an original coauthor of this work, has perished from this earth.

Naomi Bartnoff, MS Former Genetics Counselor, Center for Human and Molecular Genetics, University of Medicine and Dentistry of New Jersey, New Jersey Medical School

Danielle Lann, MD Staff Physician, Dermatology, UMDNJ-New Jersey Medical School