Woman’s Fabry disease diagnosis made only after stroke at age 41
Report highlights ‘importance’ of recognizing atypical Fabry cases: Scientsts
A Fabry disease diagnosis for a woman in Portugal came only after she had a stroke in her early 40s, according to a new report in which the scientists highlighted “the importance of early diagnosis,” especially in nontypical cases.
“The observed cerebrovascular [brain blood flow] complications [in this case] emphasize the importance of recognizing atypical presentations and conducting thorough clinical evaluation,” the researchers wrote, especially “given the potential for treatment” for some patients.
Because Fabry disease is caused by mutations in the GLA gene, which is located on the sex-determining X chromosome, the disorder is usually milder and less recognized in women than in men, the team also noted.
Fabry is most commonly characterized by problems in the kidneys and/or heart, but it also can cause problems with blood vessels that set the stage for complications like stroke. Although not necessarily a common Fabry symptom, it’s increasingly recognized that Fabry patients may be at increased risk of stroke, according to the team.
“Atypical [Fabry disease] cases, particularly those involving cerebrovascular complications like recurrent stroke, are becoming more recognized,” the scientists wrote.
Their paper, “Fabry Disease: A Rare Mutation With Common Clinical Presentation,” was published in the journal Cureus.
Scientists call for future research to improve accuracy for Fabry diagnosis
In their report, the researchers detailed the case of a 41-year-old woman admitted to the hospital due to paralysis on one side of her body — a telltale sign of stroke. Diagnostic tests confirmed she was experiencing a stroke, and she was given aspirin, which acts as an anti-clotting agent. (Strokes commonly occur due to clots that interrupt blood flow in the brain.)
The team noted that “strokes are infrequent in younger adults, making [a] diagnosis of their underlying causes challenging.”
Future research should explore genetic and environmental factors that may influence the phenotype [clinical manifestations], which is crucial for improving diagnostic accuracy and tailoring treatment strategies.
This patient had a history of hearing loss in one ear and of glaucoma, a group of eye diseases sometimes involving increased pressure in the eyes, which can lead to damage of the optic nerve. However, the woman did not have any obvious risk factors for stroke. As such, clinicians ran a battery of genetic tests looking for any mutations that might have increased her risk of stroke.
This testing revealed a mutation in the GLA gene, confirming a diagnosis of Fabry disease. Testing of her family members showed two of her daughters also carried this mutation, though neither had yet shown any signs of Fabry.
While this patient had experienced a stroke, she did not show any signs of the kidney or heart problems that usually characterize Fabry disease. The researchers speculated that other factors might also have been at play to cause her to have a stroke, but exactly what those factors might be remains unclear.
Given these findings, the scientists called for further research into what may cause strokes in Fabry patients.
“Future research should explore genetic and environmental factors that may influence the phenotype [clinical manifestations], which is crucial for improving diagnostic accuracy and tailoring treatment strategies,” the team wrote.
About the Author
