^{Presumptive diagnosis}

The following signs and symptoms are characteristic of Fabry disease and may lead to a presumptive clinical diagnosis:

• Distinctive dark red or purple spots (angiokeratomas), generally in the area between the abdomen and upper thighs
• Corneal opacities with a characteristic whorling pattern (observable through slit-lamp ophthalmoscopy)
• Symptoms of unexplained burning or tingling pain in the extremities (acroparesthesia); acute episodes of intense pain (Fabry crisis)
• Heat/cold intolerance; exercise intolerance
• Hypohidrosis/anhidrosis
• Premature renal insufficiency/failure with unknown etiology
• Cardiac abnormalities, especially left ventricular hypertrophy and mitral valve prolapse and/or regurgitation
• Premature stroke

Because Fabry disease is a multisystemic disorder, patients may present different symptoms to a wide range of specialists. The following table provides a list of specialists and the corresponding signs and symptoms that each physician may encounter.

One confounding factor in diagnosis is the fact that many common signs and symptoms of Fabry disease are misattributable to other conditions. The table below outlines some of the more common misdiagnoses of symptoms.

^{Definitive diagnosis}

^{Diagnosis in women}

Although females carrying the Fabry gene may be asymptomatic or present with mild clinical manifestations, definitive identification of carriers is important. Diagnosis allows practitioners to monitor for new or worsening symptoms, and can help with identifying other family members with the disease.

^{Prenatal diagnosis}