- Fabry's disease
Name = Fabry disease
ICD10 = ICD10|E|75|2|e|70 (
ICD9 = ICD9|272.7
OMIM = 301500
eMedicineSubj = neuro
eMedicineTopic = 579
DiseasesDB = 4638
MeshID = D000795
Fabry disease (also known as Anderson-Fabry disease,
Angiokeratomacorporis diffusum, Ruiter-Pompen-Wyers syndrome, Ceramide trihexosidosis, and Sweeley-Klionsky disease) is an X-linked recessive(inherited) lysosomal storage disease. * The disease is named for Johannes Fabry. [WhoNamedIt|synd|1761]
A deficiency of the
enzymealpha galactosidase A causes a glycolipidknown as globotriaosylceramide (also abbreviated as Gb3, GL-3, or ceramide trihexoside) to accumulate within the blood vessels, other tissues, and organs.cite journal |author=Karen JK, Hale EK, Ma L |title=Angiokeratoma corporis diffusum (Fabry disease) |journal=Dermatol. Online J. |volume=11 |issue=4 |pages=8 |year=2005 |pmid=16403380 |doi= |url=http://dermatology.cdlib.org/114/NYU/NYUtexts/0419054.html] This accumulation leads to an impairment of their proper function. The condition affects hemizygous males, as well as both heterozygous and homozygous females; males tend to experience the most severe clinical symptoms, while females vary from virtually no symptoms to those as serious as males. This variability is thought to be due to X-inactivationpatterns during embryonic development of the female.
anhidrosis, fatigue, and red spots on skin. Some of the most common pathological symptoms includes skin lesions( angiokeratomas), and a burning pain of the extremities. This pain can become very intense, especially when one has a fever. Angiokeratomas are tiny, painless papulesthat appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin (the "bikini area"). Ocular involvement may be present showing cornea verticillata (also known as vortex keratopathy); this corneal whorling does not have any effect on vision or eye function. Vortex keratopathy may be the presenting feature in asymptomatic carriers, and must be differentiated from other causes of vortex keratopathy (e.g. drug deposition in the cornea). Symptoms are typically first experienced in early childhood and can be very difficult to understand; the rarity of Fabry disease to many clinicians sometimes leads to misdiagnoses or ignorance. Manifestations of the disease usually increase in number and severity as an individual ages.
Kidney complications are a common and serious effect of the disease;
renal insufficiencyand renal failuremay worsen throughout life. Proteinuriais often the first sign of kidney involvement. Cardiaccomplications occur when Gb3 builds up in different heart cells; heart related effects worsen with age and may lead to increased risk of heart disease. Cerebrovascular effects lead to an increased risk of stroke. Other symptoms include an inability or decreased ability to sweat, fatigue, ringing in the ears ( tinnitus), vertigo, nausea, and diarrhea.
Fabry's disease may also have ocular involvement, such as the presence of corneal verticillata in the basal layers of the epithelium, conjunctival aneurysms, and spokelike cataracts. Papilledema, macular edema, optic atrophy and retinal vascular dilation may also be present.
Until recently, treatment of Fabry disease targeted the
symptomaticeffects. However, it is currently being treated at the cellular level through enzyme replacement therapy using Agalsidase alpha(Replagal) and Agalsidase beta(Fabrazyme). The cost of these drugs is problematic (approximately $170,000 US a year/patient) and remains a barrier to many patients in some countries. Enzyme replacement therapy (typically infused every two weeks) may be performed in the patient's home by the patients themselves. Enzyme replacement therapy is not a cure, and must be infused recurrently for maximum benefit.
* [http://www.focusonfabry.com/ Focus on Fabry]
* [http://www.fabry.org/FSIG.nsf/Pages2/HomePage Fabry Support & Information Group]
* [http://www.fabrycommunity.com/global/fc_p_hp_homepage.asp Fabry Community (Information, Causes, & Treatment - Est. by
* [http://www.fabrycanada.com Canadian Fabry Association]
* [http://www.apmf-fabry.org/ Fabry's Disease Association]
* [http://www.TheNFDF.org National Fabry Disease Foundation]
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