eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Niemann-Pick Disease: Treatment & Medication

Author: Lynne Ierardi-Curto, MD, PhD, Medical Geneticist, Laboratory Corporation of America (LabCorp), Northeast Division, Genetics Services
Contributor Information and Disclosures

Updated: Jan 12, 2010

Treatment

Medical Care

At present, no specific treatment is available for patients with any Niemann-Pick disease (NPD) subtypes, and treatment is symptomatic.

  • Orthotopic liver transplantation in an infant with type A disease and amniotic cell transplantation in several patients with type B disease have been attempted with little or no success.
  • Bone marrow transplantation in a patient with Niemann-Pick disease type B was successful in reducing spleen and liver volumes, the sphingomyelin content of the liver, the number of Niemann-Pick cells in the marrow, and infiltration of the lungs detected radiologically. However, no long-term information is available because the patient died 3 months after transplantation.
  • To date, lung transplantation has not been performed in any patient with type B disease who was severely compromised.
  • Future prospects for treatment of patients with Niemann-Pick disease type B include enzyme replacement and gene therapies.
  • No specific treatment has been identified for patients with type A disease. Some patients have undergone stem cell transplantation, but reports of the outcomes have not yet occurred.

Surgical Care

  • Although patients may have massive splenomegaly, splenectomy should be avoided whenever possible because removal of the spleen is accompanied by deterioration of pulmonary status, which is caused by increased storage of sphingomyelin in the lung parenchyma.

Consultations

  • Geneticist: Evaluation and ongoing care by a trained metabolic geneticist should occur.
  • Pulmonologist: Patients with Niemann-Pick disease type B should undergo annual pulmonary function testing and evaluation.

Diet

  • Pediatric patients with Niemann-Pick disease type B require frequent meals to promote growth. Many patients have early satiety because of organomegaly. For some patients, supplements with high levels of kilojoules are useful.
  • In patients with Niemann-Pick disease type A, feeding becomes a major difficulty as the disease progresses. Discussion with the family to determine a strategy for providing calories should occur.

Activity

  • Patients with type B disease should avoid contact sports because of the risk of splenic rupture.

Medication

  • Therapy using medications currently is not a component of the standard of care in patients with Niemann-Pick disease (NPD).

More on Niemann-Pick Disease

Overview: Niemann-Pick Disease
Differential Diagnoses & Workup: Niemann-Pick Disease
Treatment & Medication: Niemann-Pick Disease
Follow-up: Niemann-Pick Disease
Multimedia: Niemann-Pick Disease
References
Further Reading
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References

  1. Camoletto PG, Vara H, Morando L, et al. Synaptic vesicle docking: sphingosine regulates syntaxin1 interaction with Munc18. PLoS ONE. 2009;4(4):e5310. [Medline].

  2. Jenkins RW, Canals D, Hannun YA. Roles and regulation of secretory and lysosomal acid sphingomyelinase. Cell Signal. Jun 2009;21(6):836-46. [Medline].

  3. Ambrosio C, Serra S, Alexandre M, Malcata A. [Arthralgia, bone pain, positive antinuclear antibodies and thrombocytopenia...diagnosis: Niemann-Pick disease]. Acta Reumatol Port. Jan-Mar 2009;34(1):102-5. [Medline].

  4. Cho YU, Chae JD, Lee WM, et al. [A Case of a Korean Adult Affected by Type B Niemann-Pick Disease: Secondary Sea-blue Histiocytosis and Molecular Characterization.]. Korean J Lab Med. Apr 2009;29(2):97-103. [Medline].

  5. Rodriguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabas A. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Hum Mutat. Mar 18 2009;[Medline].

  6. [Guideline] Langlois S, Wilson RD. Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent. J Obstet Gynaecol Can. Apr 2006;28(4):324-43. [Medline]. [Full Text].

  7. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet. Dec 2002;71(6):1413-9. [Medline].

  8. Bayever E, August CS, Kamani N, et al. Allogeneic bone marrow transplantation for Niemann-Pick disease (type IA). Bone Marrow Transplant. 1992;10 Suppl 1:85-6. [Medline].

  9. Fernandez-Burriel M, Pena L, Ramos JC, et al. The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B. Clin Genet. Mar 2003;63(3):235-6. [Medline].

  10. Hellani A, Schuchman EH, Al-Odaib A, et al. Preimplantation genetic diagnosis for Niemann-Pick disease type B. Prenat Diagn. Dec 15 2004;24(12):943-8. [Medline].

  11. McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history of type A Niemann-pPck disease; Possible endpoints for therapeutic trials. Neurology. Jan 24/2006;66(2):228-232. [Medline].

  12. McGovern MM, Wasserstein MP, Giugliani R, et al. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics. Aug 2008;122(2):e341-9. [Medline].

  13. Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G, et al. Type b niemann-pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology. Nov 22/2006;238(1):339-345. [Medline].

  14. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis. Oct 2007;30(5):654-63. [Medline].

  15. Shah AJ, Kapoor N, Crooks GM, et al. Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. Pediatrics. Oct 2005;116(4):1022-5. [Medline].

  16. Takahashi T, Suchi M, Desnick RJ, et al. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. J Biol Chem. Jun 25 1992;267(18):12552-8. [Medline].

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Keywords

Niemann-Pick disease, NPD, acid sphingomyelinase deficiency, sphingomyelinase, enzyme deficiencies, neurodegenerative disease, failure to thrive, hepatosplenomegaly, sphingomyelin accumulation, lipid storage disorder, treatment, diagnosis

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Contributor Information and Disclosures

Author

Lynne Ierardi-Curto, MD, PhD, Medical Geneticist, Laboratory Corporation of America (LabCorp), Northeast Division, Genetics Services
Disclosure: Nothing to disclose.

Medical Editor

James Bowman, MD, Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago
James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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