From diagnosis to treatment of the first Fabry disease patient at Dubrava University Hospital

    Authors

    Keywords

    Fabry disease, cardiomyopathy, amyloidosis

    DOI

    https://doi.org/10.15836/ccar2024.612

    Full Text

    **Introduction**: Anderson-Fabry disease is a rare, inherited X-linked lysosomal storage disorder. It is the second most common lysosomal storage disorder after Gaucher disease. Diagnosis is typically done through dried blood spot testing, and early detection is crucial for effective treatment. Recognizing Fabry disease in its early stages is challenging, as the initial symptoms in childhood are often subtle and nonspecific, leading to potential misdiagnosis. The hallmark of Fabry cardiomyopathy is left ventricular hypertrophy. Often, diagnosis is made after unexplained strokes in younger patients, cardiac complications, or kidney failure, meaning specialists such as neurologists, cardiologists, and nephrologists are often responsible for diagnosis. (1, 2) **Case report**: The case describes a 65-year-old female patient hospitalized in April 2023 with suspected hypertrophic/infiltrative cardiomyopathy. Her family history was negative for sudden cardiac death (SCD) or heart failure. Extensive diagnostics were performed, including echocardiography, serum protein electrophoresis with immunofixation, renal and abdominal ultrasound, coronary angiography, cardiac scintigraphy, fundoscopy, and cardiac MRI. The MRI results suggested cardiac amyloidosis, leading to further investigation. Enzyme activity testing for Fabry disease showed normal alpha-galactosidase levels but positive lyso-GL3, which prompted genetic testing. This confirmed a pathogenic mutation in a heterozygous state, indicating the classical form of Fabry disease. The patient began receiving Fabrazyme therapy at a collaborating healthcare facility, with a dose of 70 mg (Fabrazyme 35 mg) during a two-hour infusion. After successful nurse training at the facility, she transitioned to receiving treatment at Dubrava University Hospital (DUH), where she is regularly monitored. Her first treatment at DUH was administered successfully in September 2024, without any side effects or allergic reactions, highlighting both the effectiveness of the treatment and the team’s preparation. **Conclusion**: Accurate and timely diagnosis is critical to initiate enzyme replacement therapy, which significantly improves patient outcomes.

    Literature

    1. Merkler M, Simić I, Pećin I, Muacević-Katanec D, Sucur N, Reiner Z. Gaucher disease--guidelines for diagnosis and management of adult patients. Lijec Vjesn. 2014 May-June;136(5-6):130–3. https://pubmed.ncbi.nlm.nih.gov/25154180/
    2. Kes VB, Cesarik M, Zavoreo I, Soldo-Butković S, Kes P, Basić-Jukić N, et al. Croatian Society for Neurovascular Disorders of Croatian Medical Association; Croatian Society of Neuroimmunology and Neurogenetics; Croatian Society of Neurology of Croatian Medical Association; Croatian Society of Nephrology, Dialysis and Transplantation of Croatian Medical Association. Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease. Acta Clin Croat. 2013 September;52(3):395–405. https://pubmed.ncbi.nlm.nih.gov/24558776/
    Cardiologia Croatica
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    From diagnosis to treatment of the first Fabry disease patient at Dubrava University Hospital

    Extended Abstract
    Issue11-12
    Published
    Pages612
    PDF via DOIhttps://doi.org/10.15836/ccar2024.612
    Fabry disease
    cardiomyopathy
    amyloidosis

    Authors

    Nikolina Jurković Dubravčić*ORCIDDubrava University Hospital, Zagreb, Croatia
    Renee MixichORCIDDubrava University Hospital, Zagreb, Croatia
    Andrea PlešaORCIDDubrava University Hospital, Zagreb, Croatia
    Senka PejkovićORCIDDubrava University Hospital, Zagreb, Croatia

    *Correspondence email: njurkovicdubravcic@gmail.com

    Full Text

    Introduction: Anderson-Fabry disease is a rare, inherited X-linked lysosomal storage disorder. It is the second most common lysosomal storage disorder after Gaucher disease. Diagnosis is typically done through dried blood spot testing, and early detection is crucial for effective treatment. Recognizing Fabry disease in its early stages is challenging, as the initial symptoms in childhood are often subtle and nonspecific, leading to potential misdiagnosis. The hallmark of Fabry cardiomyopathy is left ventricular hypertrophy. Often, diagnosis is made after unexplained strokes in younger patients, cardiac complications, or kidney failure, meaning specialists such as neurologists, cardiologists, and nephrologists are often responsible for diagnosis. (1, 2)

    Case report: The case describes a 65-year-old female patient hospitalized in April 2023 with suspected hypertrophic/infiltrative cardiomyopathy. Her family history was negative for sudden cardiac death (SCD) or heart failure. Extensive diagnostics were performed, including echocardiography, serum protein electrophoresis with immunofixation, renal and abdominal ultrasound, coronary angiography, cardiac scintigraphy, fundoscopy, and cardiac MRI. The MRI results suggested cardiac amyloidosis, leading to further investigation. Enzyme activity testing for Fabry disease showed normal alpha-galactosidase levels but positive lyso-GL3, which prompted genetic testing. This confirmed a pathogenic mutation in a heterozygous state, indicating the classical form of Fabry disease. The patient began receiving Fabrazyme therapy at a collaborating healthcare facility, with a dose of 70 mg (Fabrazyme 35 mg) during a two-hour infusion. After successful nurse training at the facility, she transitioned to receiving treatment at Dubrava University Hospital (DUH), where she is regularly monitored. Her first treatment at DUH was administered successfully in September 2024, without any side effects or allergic reactions, highlighting both the effectiveness of the treatment and the team’s preparation.

    Conclusion: Accurate and timely diagnosis is critical to initiate enzyme replacement therapy, which significantly improves patient outcomes.

    Literature

    1. 1.
      Merkler M, Simić I, Pećin I, Muacević-Katanec D, Sucur N, Reiner Z. Gaucher disease--guidelines for diagnosis and management of adult patients. Lijec Vjesn. 2014 May-June;136(5-6):130–3.PubMed
    2. 2.
      Kes VB, Cesarik M, Zavoreo I, Soldo-Butković S, Kes P, Basić-Jukić N, et al. Croatian Society for Neurovascular Disorders of Croatian Medical Association; Croatian Society of Neuroimmunology and Neurogenetics; Croatian Society of Neurology of Croatian Medical Association; Croatian Society of Nephrology, Dialysis and Transplantation of Croatian Medical Association. Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease. Acta Clin Croat. 2013 September;52(3):395–405.PubMed