Heart biopsy helped confirm Fabry disease diagnosis in woman, 57
Case report highlights challenges of accurately diagnosing Fabry
An endomyocardial biopsy, a procedure to obtain a small sample of heart muscle, helped doctors reach a definite diagnosis of Fabry disease in a woman who was thought to have end-stage kidney disease, a complication of Fabry, due to high blood pressure.
“Diagnosing Fabry disease can be challenging, as it may be confused with other medical conditions,” the researchers wrote. “Our case study showed how [a heart biopsy] played a role in diagnosing the disease and guiding proper treatment.”
According to the team, “it’s essential to consider this condition [Fabry] as a diagnosis when patients … present with unexplained [heart problems].”
The woman’s diagnosis was detailed in “A Rare Case of Fabry’s Disease-Induced Cardiomyopathy: A Case Report and Review of the Literature,” published in the journal Cureus.
Woman thought to have end-stage kidney disease due to high blood pressure
Fabry disease is caused by mutations in the gene coding for alpha-galactosidase A (alpha-Gal A), an enzyme needed to break down certain fats in the body. When this enzyme is missing or doesn’t work properly, fats build up to toxic levels within tissues and organs, causing a range of symptoms.
In the heart, this buildup can lead to left ventricular hypertrophy, which is the thickening of the muscle wall of the heart’s left lower pumping chamber. A thickened muscle wall can make it harder for the heart to pump blood out to the rest of the body, causing it to fail.
Now, researchers described the case of a 57-year-old woman who was being considered for a kidney transplant due to end-stage kidney disease — when the kidneys can no longer filter waste from the blood — that was thought to be caused by high blood pressure.
The woman had a history of atrial fibrillation, or an irregular heartbeat, and a past transient ischemic attack, which is a temporary blockage of blood flow to the brain. She also had a family history of end-stage kidney disease, seen in both her parents and maternal grandmother.
While being evaluated for the kidney transplant, the doctors found that the woman had severe left ventricular hypertrophy. Blood testing revealed low levels of the alpha-Gal A enzyme, raising the possibility of Fabry disease, which was confirmed by genetic testing and an endomyocardial biopsy.
“In this case study, we share findings about cardiomyopathy [heart muscle disease] resulting from Fabry disease to explain how this condition impacts the heart and the importance of a biopsy in making a diagnosis,” the researchers wrote.
When a small sample of heart muscle was examined under a microscope, muscle cells showed empty spaces, a sign that they may be damaged. Using a more powerful approach called electron microscopy, the doctors observed abnormal structures within cells called myeloid and curvilinear bodies, which are typical of Fabry disease.
These findings helped to confirm a diagnosis of Fabry.
In this case study, we share findings about cardiomyopathy [heart muscle disease] resulting from Fabry disease to explain how this condition impacts the heart and the importance of a biopsy in making a diagnosis.
According to the researchers, the woman’s treatment plan involves enzyme replacement therapy to provide the missing alpha-Gal A enzyme and prevent further organ damage. The researchers also will work with a genetics team to provide genetic counseling to the woman’s family, given the inherited nature of Fabry.
The team noted that Fabry can be difficult to diagnose because its symptoms overlap with other diseases. Thus, “it’s crucial to distinguish [Fabry] disease from conditions that cause [other heart problems],” the researchers wrote.
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