How Pediatricians Can Help

Pediatricians can play a critical role in the detection of Fabry disease. By recognizing the early signs and symptoms, pediatricians have the opportunity to identify Fabry disease earlier in the disease course, and to initiate appropriate interventions.

The presenting symptoms described below, in conjunction with a family history of early renal or cardiac disease, should raise a high suspicion of Fabry disease. The diagnosis can be confirmed or ruled out in males with a blood test for α-galactosidase A (α-GAL) enzyme activity; females require a genetic assay to establish a definitive diagnosis.

Common presenting symptoms

Among children and adolescents, the most common presenting symptoms of Fabry disease are:

  • Episodes of agonizing, incapacitating pain radiating from the extremities or in the abdomen (“Fabry crises”) lasting for minutes or days. Learn more
  • Intermittent paresthesia or acroparesthesia: chronic, burning, tingling pain, usually in the extremities, often beginning in early childhood. Learn more
  • Fatigue.
  • Angiokeratomas (dark reddish-purple skin lesions that do not blanch with pressure) may appear in adolescence and worsen in adulthood. Learn more
  • Recurrent fever accompanying pain and associated with elevated erythrocyte sedimentation rate.
  • Decreased ability to sweat (hypohidrosis/anhidrosis). Learn more
  • Heat and cold intolerance. Learn more
  • Gastrointestinal symptoms such as diarrhea, cramping, and bloating. Learn more

Angiokeratomas in Fabry disease

Side by side images of angiectases

Characteristic lesions may be seen in the abdominal and/or buttock areas (“bathing suit distribution”), and range in size from a pinpoint to several millimeters. Used with permission from R.J. Desnick, MD, Phd.

Additional clinical findings

In addition to the common presenting symptoms discussed above, clinical findings in children and adolescents may include:

  • Corneal and lenticular abnormalities (seen through a slit lamp; generally do not affect vision). Learn more
  • Mild proteinuria and urinary sediment containing globotriaosylceramide.