eMedicine Specialties > Dermatology > Pediatric Diseases

Niemann-Pick Disease: Follow-up

Author: Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Coauthor(s): Santiago A Centurion, MD, Staff Physician, Department of Dermatology, New Jersey Medical School, University of Medicine and Dentistry of New Jersey; Danielle Lann, MD, Staff Physician, Dermatology, UMDNJ-New Jersey Medical School; Naomi Bartnoff, MS, Former Genetics Counselor, Center for Human and Molecular Genetics, University of Medicine and Dentistry of New Jersey, New Jersey Medical School
Contributor Information and Disclosures

Updated: May 29, 2009

Follow-up

Complications

  • Mental retardation
  • Delayed development of physical skills
  • Blindness
  • Deafness
  • Progressive deterioration (Niemann-Pick disease [NPD] is a fatal disorder.)

Prognosis

  • Patients with Niemann-Pick disease type A die in infancy.
  • Patients with Niemann-Pick disease type B may live a comparatively long time, but many require supplemental oxygen because of lung involvement.
  • The life expectancies of patients with Niemann-Pick disease types C and D are variable. Some patients die in childhood, whereas others who appear to be less drastically affected live into adulthood.

Patient Education

  • Genetic counseling may be helpful.
    • Carrier detection testing for all families is not yet reliable. The mutations in Niemann-Pick disease types A and B have been extensively studied, particularly in the Ashkenazi Jewish population, and DNA tests for these forms of Niemann-Pick disease are available. Antenatal diagnosis (ie, diagnosis in the fetus) of Niemann-Pick disease is possible in a limited number of centers. Carrier detection is possible in families only after their specific mutation is identified.
    • Niemann-Pick disease is inherited in an autosomal recessive manner. A couple who has a child with Niemann-Pick disease is at a 25% risk with each pregnancy of having another child who is affected; prenatal testing is available for such pregnancies. The phenotype (eg, age of onset, severity of symptoms) is usually consistent in families. Unaffected siblings of the proband have a 66% risk of being carriers of the gene for Niemann-Pick disease.
    • Biochemical testing can be used when the proband has a classic biochemical phenotype but not when the proband has a variant biochemical phenotype.
    • Molecular genetic testing can be used when the proband has mutations in the NPC1 gene that have been identified.
  • For excellent patient education resources, visit eMedicine's Cholesterol Center and Statins Center. Also, see eMedicine's patient education articles High Cholesterol, Cholesterol FAQs, and Atorvastatin (Lipitor).

Miscellaneous

Medicolegal Pitfalls

  • Failure to perform a workup for Niemann-Pick disease in patients with nodular xanthomas, foamy cells on histologic examination, and other systemic manifestations

Special Concerns

  • All types of Niemann-Pick disease are autosomal recessive, which means that both parents carry 1 copy of the abnormal gene, without having any signs of the disease.
  • When both parents are carriers, in each pregnancy, they have a 1 in 4 risk of having a child who is affected with the disease and a 1 in 2 risk that the child will be a carrier.
 


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
References
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Further Reading

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Keywords

Niemann-Pick disease, NPD, Crocker's syndrome, Crocker syndrome, Crocker-Farber syndrome, Niemann's disease, Niemann disease, Pick's disease, Pick disease, essential lipoid histiocytosis, lipid histiocytosis, phosphatid lipoidosis, phosphatidosis sphingomyelin lipidosis, sphingomyelinosis, sphingomyelin reticuloendotheliosis

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Contributor Information and Disclosures

Author

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

Coauthor(s)

Santiago A Centurion, MD, Staff Physician, Department of Dermatology, New Jersey Medical School, University of Medicine and Dentistry of New Jersey
Santiago A Centurion, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, and Sigma Xi
Disclosure: Nothing to disclose.

Danielle Lann, MD, Staff Physician, Dermatology, UMDNJ-New Jersey Medical School
Disclosure: Nothing to disclose.

Naomi Bartnoff, MS, Former Genetics Counselor, Center for Human and Molecular Genetics, University of Medicine and Dentistry of New Jersey, New Jersey Medical School
Disclosure: Nothing to disclose.

Medical Editor

Albert C Yan, MD, Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania
Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, Society for Investigative Dermatology, and Society for Pediatric Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital
Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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