Fabry disease
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
Also known as: Alpha-galactosidase A deficiency, Anderson-Fabry disease, FD, Fabry disease, Fabry's disease, Fd, angiokeratoma corporis diffusum, diffuse angiokeratoma, angiokeratoma, diffuse.
Category: General
Drugs labeled for Fabry disease
3 medication ingredients list an association with fabry disease in current FDA labeling.
Symptoms associated with Fabry disease
The following symptoms have been associated with Fabry disease in medical literature. Not everyone experiences the same symptoms.
Abdominal pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perc...
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Lymphedema
Localized fluid retention and tissue swelling caused by a compromised lymphatic system....
Nausea
A sensation of unease in the stomach together with an urge to vomit....
Paresthesia
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate Fabry disease
Healthcare providers may order these tests when evaluating Fabry disease. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Fabry disease, which is why a clinical evaluation is important.
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Marburg hemorrhagic fever
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Scorpion envenomation
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acute intermittent porphyria
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Frequently Asked Questions
What is Fabry disease?
Fabry disease is a health condition described in medical literature. Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
What are the symptoms of Fabry disease?
Fabry disease is associated with 8 symptoms in the medical literature we index, including Abdominal pain, Diarrhea, Hypertension, Lymphedema, Nausea, Paresthesia. Symptoms vary widely between individuals.
How is Fabry disease diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Fabry disease include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Fabry disease, please discuss your symptoms with a qualified healthcare provider.