Lipid Storage Disorders Follow-up

Updated: Sep 12, 2017
  • Author: Tamam N Mohamad, MD, FACC, FSCAI, RVPI; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Follow-up

Further Outpatient Care

Fabry disease

Baseline diagnostic studies (electrocardiography, echocardiogram, ophthalmologic examination, renal function tests, plasma and/or urine GL-3) should be obtained. Affected family members identified during screening should also undergo identical evaluations; adults should also undergo additional testing as recommended.

Infants with Fabry disease should be seen by a metabolic specialist at 6-month intervals and monitored for the onset of Fabry symptoms. [16]

Gaucher disease

Evaluations for anemia/thrombocytopenia, hepatosplenomegaly, and bony involvement should be performed.

In patients who are predicted to have neuronopathic Gaucher disease and in patients whose genotype cannot accurately predict the phenotype, the degree of neurological impairment should also be assessed.

Gaucher biomarker and anti-GBA antibody levels should be measured before initiation of ERT.

Infants should be monitored at regular intervals (at least quarterly) to assess response to treatment and development. [16]

Niemann-Pick disease

Infants with Niemann-Pick disease should undergo dilated funduscopic examination performed by an ophthalmologist.

Plain chest radiography abdominal ultrasonography should be performed at regular intervals to document the extent of pulmonary involvement and hepatosplenomegaly.

The metabolic physician should evaluate the infant on a monthly basis, documenting weight gain, linear growth, pulse oximetry, and developmental progression.

Infants need evaluation and regular follow-up by a neurologist and pulmonologist as the disorder progresses. Because no curative treatment currently exists, only symptomatic and supportive care can be provided.

Lipid-lowering drugs (eg, statins) are ineffective. [16]

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Complications

Potential complications are as follows:

  • Splenic rupture in Gaucher disease and sphingomyelinase deficiency (NPD types A and B)
  • 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 sphingomyelinase deficiency (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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