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Basics

Eveline C. Traeger, MD


BASICS

DESCRIPTION

EPIDEMIOLOGY

Incidence/Prevalence

Sex

Because of X-linked inheritance, patients with Fabry are male. Female heterozygotes may manifest symptoms of the disease but symptoms are less severe and of later onset.

RISK FACTORS

Genetics

The sphingolipidoses are inherited in an autosomal-recessive manner except for Fabry, which is X-linked. Carrier identification and prenatal testing are available.

PATHOPHYSIOLOGY

Deficiency of a lysosomal hydrolase required to degrade glycosphingolipids, an essential component of cell membranes. Lysosomal accumulation of the enzyme's substrate results in physiologic and morphologic alterations of specific tissues and organs with clinical manifestations that may include neurodegeneration, organomegaly, skeletal abnormalities, bone marrow dysfunction and pulmonary infiltration.

Diagnosis

DIAGNOSIS

HISTORY

PHYSICAL EXAM

Imaging

Initial Approach

Diagnostic Procedures/Other

DIFFERENTIAL DIAGNOSIS

The sphingolipidoses must be differentiated from other inherited neurodegenerative diseases.

Treatment

TREATMENT

MEDICATION

First Line

COMPLEMENTARY AND ALTERNATIVE THERAPIES

IN-PATIENT CONSIDERATIONS

Admission Criteria

Patients are usually admitted for evaluation and treatment of the neurologic and systemic complications of their disorder.

Ongoing Care

ONGOING-CARE

PATIENT MONITORING

Patient follow-up is guided by the predicted course and potential complications of the disease.

PATIENT EDUCATION

PROGNOSIS

Additional Reading

Codes

CODES

ICD9

Clinical Pearls