Are there any prenatal tests for Fabry disease?

In pregnant patients with Fabry disease, prenatal diagnosis can be performed using cultured amniocytes or chorionic villi for molecular testing to determine if the GLA gene variant has been inherited by the foetus.

How do you diagnose Fabry disease?

A GLA gene test is performed to diagnose Fabry disease. Males with Fabry disease can usually be diagnosed via an enzyme assay test. Males with classic Fabry disease essentially have no alpha-galactosidase A enzyme (less than 1% of normal).

What age is Fabry disease diagnosed?

The median age at diagnosis of Fabry disease was 28.6 years in a recent study from Australia [3]. Similarly, the median age at diagnosis was about 28 years among 688 patients recorded in FOS – the Fabry Outcome Survey – although the first symptoms occurred some 16 years earlier (Table 1).

Can you have kids with Fabry disease?

Can I get pregnant if I have Fabry disease? Women with Fabry disease can get pregnant, but they have an increased risk of complications during pregnancy. If you have Fabry disease, it is a good idea to discuss with your doctor and a genetic counselor before trying to get pregnant.

What is Fabry disease symptoms in females?

Along with pain, you may have body aches and fever and often feel extremely tired. Numbness, tingling, burning, or pain, especially in your hands or feet, are common. Women and girls with Fabry disease often report severe nerve pain. Your condition may lead to arthritis.

Is Fabry disease inherited?

The GLA gene is located on the X-chromosome and therefore, Fabry disease is inherited as an X-linked disorder. Males with the type 1 classic and type 2 later-onset phenotypes (see below) are typically significantly more severely affected than their affected female relatives (Arends 2017).

What gene or chromosome is affected by Fabry disease?

Why is Fabry misdiagnosed?

In some cases, Fabry disease can also be misdiagnosed as multiple sclerosis, because patients with either disease can present with pain and white matter lesions on magnetic resonance imaging.

Why is Fabry disease misdiagnosed?

Is Fabry disease recessive or dominant?

Although Fabry disease was previously considered to be an X-linked recessive disorder, Wang et al. (2007) found that heterozygous women with Fabry disease experience significant life-threatening conditions requiring medical treatment and intervention.