Yet Another Study Indicates we Need to Improve Care for Female Fabry Disease Patients

Females vs. Males with Fabry

Fabry disease is an X-linked condition caused by a malfunctioning GLA gene. It was long believed to only affect men. Since women have two X chromosomes it was thought that the presence of a healthy gene in one of these would compensate for the defective copy in the other. For this reason, many researchers contended that women were only carriers of the disease, and could not be patients themselves.

In fact, while females do typically have a more mild form of the condition, experiencing less severe symptoms than males, most still necessitate treatment. Many studies have alluded to this fact, but because there is still widespread misunderstanding concerning the female patient experience, women are much less likely to receive the treatment they need. Likewise, they are less likely to be enrolled in patient registries than men, meaning there is a severe lack of reported data surrounding their experience.

Recently, yet another study, this one conducted in Spain, has shown that the majority of women do in fact experience disease symptoms, ranging from mild to severe, and need to be evaluated for treatment.

A New Study

This study specifically examined women with Fabry disease who had not received enzyme replacement therapy (ERT). There were 33 participants who had a mean age of 45. The median age that the patients first experienced symptoms was 35 and a half however, the median age of diagnosis was not until two years after symptom presentation.

In this study, patients clinical records were reviewed, they were assessed by a physician, and they were given a questionnaire to report their own symptoms.

Major Findings

  • 42.2% had symptoms of anxiety/depression
  • 30.3% attested to the fact their quality of life was effected by their pain
  • 40.9% experienced tingling in the extremities
  • 27.3% experienced dizziness
  • 27.3% experienced headache
  • 27.3% experienced heart palpitations
  • 27.3% experienced constipation
  • 27.3% had pain in their joints
  • 22.7% had back pain
  • 22.7% suffered from hypohidrosis

68.8% of all of the participants said they experienced at least one of the above symptoms. Additionally, among all of the symptoms they reported that those that affected them neurologically were the most severe.

Despite this, 69% of patients had been considered symptom-free. 62.5% were not given any treatment. Those who did receive treatment (6 patients), were given therapies to treat their symptoms such as pain killers or anti-inflammatory medicines. ERT was only offered to one patient. This patient refused the treatment.

68.8% of the patients were found to have a missense mutation in the GLA gene, causing the disease symptoms. 28.1% of the patients had a deletion in the gene. The latter group reported worse pain and neuropathy.

This study was published in Medicina Clínica.


Among the patients evaluated in this study, few had received complementary testing to follow-up on their symptoms. Researchers contend that this is because of the widespread misconceptions surrounding females with Fabry.

Overall, this study brought to light the immense need to provide better care for women with Fabry disease. The researchers advocate for careful follow-up of these patients and the prescription of ERT or other treatments when needed. Ultimately these steps could delay the progression of organ damage and as a result, improve outcomes and quality of life for these women.

This study clearly shows that women do in fact experience disease symptoms and not only deserve but necessitate the same follow-up procedures and treatment options that are provided to men.

You can read more about this study here.

Share this post