Fabry Disease / Lysosomal Storage Disorder Quiz
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Dizziness
Feel like my heart is pounding
Feel like my head is spinning
Fast heartbeat
Reduced sweating
Numbness in hands or feet
Sensitive to extreme temperatures
Ringing sensation in the ears
Stomach feels bloated
Feel breathless
Swelling in legs
Frequently feeling anxious
Not seeing your symptoms? No worries!
What is Fabry Disease / Lysosomal Storage Disorder?
Fabry Disease is a rare genetic condition caused by a problem with the GLA gene, which leads to a lack of an important enzyme called alpha-galactosidase A. This causes fatty substances to build up in the body, affecting the skin, heart, kidneys, and nervous system. Symptoms can include burning pain in the hands and feet, small dark red spots on the skin, and trouble sweating. If not treated, it can lead to serious problems like kidney failure, heart disease, and strokes.
Typical Symptoms of Fabry Disease / Lysosomal Storage Disorder
- Family history of reduced sweating (Hypo-hidrosis / Anhidrosis)
- Hands and feet feel hot
- Diagnosed with vascular tumors or vascular malformations
- Diagnosed with heart failure at age 45 or younger
- I have been diagnosed with peripheral nerve damage before.
Diagnostic Questions for Fabry Disease / Lysosomal Storage Disorder
Your doctor may ask these questions to check for this disease:
- Is reduced sweating in your family history?
- Are your hands or feet hot?
- Have you been diagnosed with vascular tumors or malformations?
- Have you been diagnosed with heart failure at age 45 or younger?
- Have you ever been diagnosed with peripheral nerve damage?
Treatment of Fabry Disease / Lysosomal Storage Disorder
Treatment for Fabry Disease often involves enzyme replacement therapy (ERT), which provides the missing enzyme to reduce fatty buildup and protect organs. Managing symptoms like pain, monitoring kidney and heart health, and making dietary and lifestyle changes are also important parts of care. Families may also benefit from genetic counseling to understand the condition and its inheritance.
Reviewed By:
Hidetaka Hamasaki, MD (Endocrinology)
Dr. Hamasaki graduated from the Hiroshima University School of Medicine and the Graduate School of Medicine, Jichi Medical University. He completed his residency at the Department of Diabetes, Endocrinology and Metabolism, National Center for Global Health and Medicine Hospital and the Department of Internal Medicine, Kohnodai Hospital, National Center for Global Health and Medicine. He has served in the National Center for Global Health and Medicine Hospital and Kohnodai Hospital and joined Hamasaki Clinic in April 2017. Dr. Hamasaki specializes in diabetes and treats a wide range of internal medicine and endocrine disorders.
Kenji Taylor, MD, MSc (Family Medicine, Primary Care)
Dr. Taylor is a Japanese-African American physician who grew up and was educated in the United States but spent a considerable amount of time in Japan as a college student, working professional and now father of three. After graduating from Brown, he worked in finance first before attending medical school at Penn. He then completed a fellowship with the Centers for Disease Control before going on to specialize in Family and Community Medicine at the University of California, San Francisco (UCSF) where he was also a chief resident. After a faculty position at Stanford, he moved with his family to Japan where he continues to see families on a military base outside of Tokyo, teach Japanese residents and serve remotely as a medical director for Roots Community Health Center. He also enjoys editing and writing podcast summaries for Hippo Education.
Content updated on Jan 23, 2025
Following the Medical Content Editorial Policy
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Link to full study:
https://www.medrxiv.org/content/10.1101/2024.08.29.24312810v1References
Besekar SM, Jogdand SD, Naqvi WM. Fabry Disease and Its Management: A Literature Analysis. Cureus. 2023 Apr 2;15(4):e37048. doi: 10.7759/cureus.37048. PMID: 37153259; PMCID: PMC10154914.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10154914/Berry, L., Walter, J., Johnson, J. et al. Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents. Orphanet J Rare Dis 19, 153 (2024).
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03090-4Lerario, S., Monti, L., Ambrosetti, I. et al. Fabry disease: a rare disorder calling for personalized medicine. Int Urol Nephrol 56, 3161–3172 (2024).
https://link.springer.com/article/10.1007/s11255-024-04042-4