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Sphingomyelinase Deficiency Treatment & Management

  • Author: Lynne Ierardi-Curto, MD, PhD; Chief Editor: Bruce Buehler, MD  more...
 
Updated: Mar 27, 2014
 

Medical Care

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

Adult patients with elevated serum cholesterol due to NPD type B should be treated to bring serum cholesterol concentration into the normal range. Liver function should be monitored in patients treated with statins.

Transfusion of blood products may be necessary for acute episodes of bleeding secondary to hypersplenism and thrombocytopenia in NPD type B patients.

Supplemental oxygen may be used for NPD type B patients with symptomatic interstitial lung disease. Bronchopulmonary lavage has had variable results.

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Surgical Care

Orthotopic liver transplantation in an infant with Niemann-Pick disease (NPD) type A and amniotic cell transplantation in several patients with NPD type B have been attempted with little or no success.

Bone marrow transplantation has been attempted in patients with NPD type B with variable results, including reduction in spleen and liver volumes, increased peripheral blood cell counts, and decreased infiltration of the lungs. It is not considered appropriate for treatment of NPD with neurologic involvement.

Histocompatible hematopoietic stem cell transplantation conducted on a 4-year-old girl with NPD type B was successful in improving sphingomyelinase enzyme levels and improving severe pulmonary disease.[10]

To date, lung transplantation has not been performed in any patient with type B disease who was severely compromised.

Although patients may have massive splenomegaly, splenectomy should be avoided whenever possible. Removal of the spleen is accompanied by deterioration of pulmonary status and increased morbidity since it eliminates an important reservoir for substrate accumulation that leads to acceleration of disease in other organs such as the lung.[11]

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Further Care

Pulmonary infections occur frequently in patients with Niemann-Pick disease (NPD) types A and B.

Patients with type A disease may develop respiratory decompensation, requiring inpatient care for stabilization during severe episodes.

Diet

Pediatric patients with NPD 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 NPD 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 NPD type B disease and splenomegaly should avoid contact sports because of the risk of splenic rupture. Immediate medical attention should be obtained after trauma, owing to the risk of splenic rupture and intracranial bleeding due to hypersplenism.

Consultations

Evaluation and ongoing care by a trained metabolic geneticist should occur.

Patients with NPD type B should undergo annual pulmonary function testing and evaluation.

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Contributor Information and Disclosures
Author

Lynne Ierardi-Curto, MD, PhD Attending Physician, Division of Metabolism, Children's Hospital of Philadelphia

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 Intellectual and Developmental Disabilities, American College of Medical Genetics and Genomics, American Association for Physician Leadership, American Medical Association, Nebraska Medical Association

Disclosure: Nothing to disclose.

Acknowledgements

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.

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.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

References
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  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. 2009 Mar 18. [Medline].

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  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. 2002 Dec. 71(6):1413-9. [Medline]. [Full Text].

  8. Vykuntaraju KN, Lokanatha H, Shivananda. Niemann-Pick disease type A presenting as unilateral tremors. Indian Pediatr. 2012 Nov. 49(11):919-20. [Medline].

  9. Wasserstein MP, Aron A, Brodie SE, Simonaro C, Desnick RJ, McGovern MM. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr. 2006 Oct. 149(4):554-9. [Medline].

  10. Shah AJ, Kapoor N, Crooks GM, Parkman R, Weinberg KI, Wilson K, et al. Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. Pediatrics. 2005 Oct. 116(4):1022-5. [Medline].

  11. McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. Morbidity and mortality in type B Niemann-Pick disease. Genet Med. 2013 Aug. 15(8):618-23. [Medline].

 
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