eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Lipid Storage Disorders: Follow-up

Author: Margaret M McGovern, MD, PhD, Professor and Chair of Pediatrics, Stony Brook University, New York
Contributor Information and Disclosures

Updated: May 28, 2009

Follow-up

Complications

  • Splenic rupture in Gaucher disease and Niemann-Pick disease (NPD)
  • Aspiration that results in neurologic deficits possible in patients affected with infantile forms of lipid storage disorders
  • Renal failure in Fabry disease

Prognosis

  • Patients affected with infantile forms that include neurologic disease have an unrelenting course that leads to death, usually when patients are younger than 5 years.
  • Most patients with GM1 gangliosidosis are blind and deaf when younger than 2 years. They also have severe neurologic impairment characterized by decerebrate rigidity. Death usually occurs by age 3-4 years.
  • Infants with Tay-Sachs have a progressive course with death at age 4-5 years.
  • Gaucher disease type 2, which is much less common than type 1 disease, is characterized by a rapid neurodegenerative course with extensive visceral involvement and death within the first 2 years of life.
  • Gaucher disease type 3 presents with clinical manifestations intermediate to those in types 1 and 2. Patients present in childhood and death occurs by age 10-15 years. Neurologic involvement is present, but occurs later and with decreased severity compared to type 2. Type 3 is further classified into type 3a and 3b based on extent of neurologic involvement and presence of progressive myotonia and dementia (type 3a) or isolated supranuclear gaze palsy (type 3b).
  • For fucosidosis, Krabbe disease, and Schindler disease, the CNS storage results in a relentless neurodegenerative course with death in childhood.
  • In metachromatic leukodystrophy (MLD), nystagmus, myoclonic seizures, optic atrophy, and quadriparesis appear. Disease progresses and the child dies within the first decade of life. The juvenile form has a more indolent course with onset as late as age 20 years.
  • Clinical presentation and course of NPD type A is relatively uniform and characterized by normal appearance at birth with the occasional complication of prolonged jaundice. Hepatosplenomegaly, moderate lymphadenopathy, and psychomotor retardation are evident by age 6 months, followed by regression. With advancing age, loss of motor function and deterioration of intellectual capabilities are progressively debilitating. In later stages, spasticity and rigidity are evident with affected infants experiencing complete loss of contact with their environment. Death occurs by age 5 years. In contrast to stereotyped type A phenotype, clinical presentation and course of patients with type B disease are more variable. Most patients are diagnosed in infancy or childhood when enlargement of liver and spleen is detected during a routine physical examination. Survival to adulthood is typical.
  • Clinical manifestations of Gaucher disease type 1 have a variable age of onset from early childhood to late adulthood, with most symptomatic patients presenting by adolescence. Some patients may be discovered during evaluation for other conditions or as part of routine examinations who have a benign disease course. In patients who may experience developmental delays secondary to effects of chronic disease, with exception of children with severe growth retardation, final development and intelligence are normal. Patients typically survive until adulthood.
  • Patients with Fabry disease have major morbid symptoms resulting from progressive involvement of vascular system. Gradual deterioration of renal function and development of azotemia occur in the second through fourth decades of life, and cardiovascular findings may include hypertension, left ventricular hypertrophy, anginal chest pain, myocardial ischemia or infarction, and congestive heart failure. Death most often results from uremia or vascular disease of heart or brain. Prior to hemodialysis or renal transplantation, mean age of death for affected men was 41 years.

Patient Education

  • Genetic evaluation is essential to identify additional carriers and offer prenatal diagnosis for future pregnancies.
 


More on Lipid Storage Disorders

Overview: Lipid Storage Disorders
Differential Diagnoses & Workup: Lipid Storage Disorders
Treatment & Medication: Lipid Storage Disorders
Follow-up: Lipid Storage Disorders
Multimedia: Lipid Storage Disorders
References
Further Reading
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References

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

  2. Sasaki H, Arai H, Cocco MJ, White SH. pH dependence of sphingosine aggregation. Biophys J. Apr 8 2009;96(7):2727-33. [Medline].

  3. Steczkowska M, Gergont A, Kroczka S, Nowak A. [Clinical features of GM1 and GM2 gangliosidosis in own observation]. Przegl Lek. 2008;65(11):819-23. [Medline].

  4. 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].

  5. [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].

  6. Arora P, Tullu MS, Muranjan MN, et al. Congenital and inherited ophthalmologic abnormalities. Indian J Pediatr. Jul 2003;70(7):549-52. [Medline].

  7. Burton BK. Inborn errors of metabolism: the clinical diagnosis in early infancy. Pediatrics. Mar 1987;DA - 19870331(3):359-69. [Medline].

  8. Mistry PK, Smith SJ, Ali M, Hatton CS, McIntyre N, Cox TM. Genetic diagnosis of Gaucher's disease. Lancet. Apr 11 1992;339(8798):889-92. [Medline].

  9. Scriver CR, Beaudet AL, Sly WS. The Metabolic Basis of Inherited Disease. 1995.

  10. Watts W, Gibbs D. Lysosomal storage diseases: Biochemical and clinical aspects. 1986.

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Keywords

lipid storage disorders, lipid storage diseases, gangliosidoses, glycolipidoses, sphingolipidoses, GM1 gangliosidoses, GM2 gangliosidoses, Gaucher disease, Gaucher's disease, Niemann-Pick disease, NPD, Fabry disease, Fabry's disease, fucosidosis, Schindler disease, Schindler's disease, metachromatic leukodystrophy, MLD, Krabbe disease, Krabbe's disease, multiple sulfatase deficiency, Farber disease, Farber's disease, Wolman disease, Wolman's disease, lipid storage disease, lipid-storage disease, lipid-storage disorders, lipid storage disorders, to thrive, relentless vomiting, abdominal distention, hepatosplenomegaly, treatment, diagnosis

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Contributor Information and Disclosures

Author

Margaret M McGovern, MD, PhD, Professor and Chair of Pediatrics, Stony Brook University, New York
Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Genzyme Grant/research funds PI

Medical Editor

Edward Kaye, MD, Vice President of Clinical Research, Genzyme Corporation
Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, American Society of Gene Therapy, American Society of Human Genetics, Child Neurology Society, and Society for Inherited Metabolic Disorders
Disclosure: Genzyme Corporation Salary Management position

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Leonard G Feld, MD, PhD, MMM, FAAP, Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center
Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, 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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