The clinical manifestations in females with Fabry disease can range from asymptomatic throughout a normal lifespan to as severe as affected males. Although symptoms are generally less severe than affected males, the severity of the disease should not be underestimated. It is very difficult to predict timing of onset and severity of the disease.

Symptoms with female patients have been categorized in the literature according to the onset and severity of symptoms: early symptoms tend to have more mild manifestations whereas the more severe, incapacitating manifestations occur later in life. (Note references below) The mild manifestations are more common and generally begin in childhood or adolescence while the more severe manifestations are less frequent and typically occur in adulthood or late maturity. However, significant symptoms have been reported in young female patients.

The mild manifestations include the characteristic corneal opacities which do not impair vision (the majority of female patients will have the corneal whorls) Skin lesions (angiokeratomas) which are usually isolated or sparse, pain in the extremities (acroparesthesia), and decreased ability to sweat (hypohidrosis). In addition, females may have chronic abdominal pain and diarrhea.

With the later onset, the manifestations tend to be more serious, which includes left ventricular hypertrophy, myocardial infarction, transient ischemia attacks, and strokes. It was reported that about 10 percent of females in this category develop renal failure requiring dialysis or transplantation according to the US and European dialysis and transplant registries. It needs to be noted that only two women were involved in the clinical trial with ERT. Therefore, no determination can be made at this time if females will respond differently than men to the treatment.

Frequency of Manifestations in Carrier Females