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A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells
Rina Onishi1, Koshiro Kanaoka1,2, Junichi Sugiura1
1Cardiovascular Medicine, Nara City Hospital, Japan.
Insights
Variant Fabry disease, a lysosomal storage disorder, can be challenging to diagnose. Urinary mulberry cells are a key diagnostic indicator, especially when classic symptoms are absent.
Area of Science:
- Genetics and rare diseases
- Biochemistry and metabolic disorders
- Cardiology and internal medicine
Background:
- Fabry disease is an X-linked lysosomal storage disorder resulting from alpha-galactosidase A deficiency.
- It presents in classical and variant forms, with variant types often lacking typical clinical manifestations.
- Early diagnosis is crucial for managing potential complications like heart failure.
Observation:
- A 73-year-old woman presented with her first episode of heart failure.
- Cardiac examination revealed mildly reduced left ventricular wall motion without hypertrophy.
- Urine sediment analysis unexpectedly identified mulberry cells.
Findings:
- The presence of mulberry cells in urine led to the diagnosis of Fabry disease.
- This finding was significant given the patient's atypical presentation.
- Urinary mulberry cells serve as a vital diagnostic marker for Fabry disease.
Implications:
- This case highlights the diagnostic utility of urinary mulberry cells in variant Fabry disease.
- It underscores the importance of considering rare genetic disorders in patients with unexplained heart failure.
- Identifying variant Fabry disease aids in timely intervention and management of cardiac manifestations.
Abstract:
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and is classified into two types: classical and variant. The classical type exhibits classic manifestations, but the variant type does not and is therefore difficult to identify sometimes. A 73-year-old woman with a first episode of heart failure was admitted to our hospital. Her left ventricular wall motion was mildly reduced without hypertrophy. Urine sediment revealed mulberry cells, leading to the diagnosis of Fabry disease. In cases without typical clinical findings, urinary mulberry cells may help diagnose Fabry disease.
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