How Primary Care Physicians Can Help

Primary care physicians can play a critical role in the detection of Fabry disease. By recognizing the early signs and symptoms, primary care phyisicians have the opportunity to identify Fabry disease earlier in the disease course, and to initiate appropriate disease management.

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

In a primary care setting, the most common presenting symptoms of Fabry disease are:

  • Fatigue.
  • Gastrointestinal problems such as abdominal pain, diarrhea, vomiting, and nausea. Learn more
  • Heat and cold intolerance. Learn more
  • Decreased ability to sweat (hypohidrosis/anhidrosis). Learn more
  • Acute and chronic pain hand or foot pain, or acute agonizing episodes of radiating pain in the extremities or abdomen (“Fabry crises” lasting for minutes or days). Learn more
  • Recurrent fever accompanying pain and associated with elevated erythrocyte sedimentation rate.
  • A more specific sign of Fabry disease that may be seen in adolescents and adults is angiokeratomas: dark reddish-purple skin lesions that do not blanch with pressure. 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.

Adolescents and adults may have:

  • Renal dysfunction leading to uremia and hypertension, and progressing to end-stage renal disease. Learn more
  • Cardiovascular dysfunction including myocardial infarction, cardiac hypertrophy, valvular abnormalities, and arrhythmias. Learn more
  • Cerebrovascular complications including early stroke, hemiplegia, hemianesthesia, and transient ischemic attacks. Learn more
  • Pulmonary complications including airflow obstruction and dyspnea.