Lipid Storage Disorders Follow-up

  • Author: Lynne Ierardi-Curto, MD, PhD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Sep 30, 2010
 

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
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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 first. The disease continues to progress, resulting in death 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 result in progressive debilitation. 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 the 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 who have a benign disease course may be discovered during evaluation for other conditions or as part of a routine examination. Patients who exhibit delays secondary to the effects of chronic disease may ultimately achieve normal development and intelligence, with the exception of children with severe growth retardation. 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.
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Patient Education

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

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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.

Specialty Editor Board

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

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.

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.

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 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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Autosomal recessive inheritance pattern.
 
 
 
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