Disease Information for Fabry disease crisis/syndrome

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Clinical Manifestations
Signs & Symptoms
High blood pressure child
High blood pressure/sign
Acute abdomen with no signs
Acroparesthesias Acral Paresthesias
Finger Pain
Pain in Extremities/Melalgias
Painful hands and feet
Painful/finger tips
Loss of pain of temperature sensation
Moro Reflex unilateral Abnormal
Stroke Syndrome Child
Stroke Syndrome/Hereditary Disease
Uhthoff phenomenon Heat-trigger Weakness
Acutely ill patient/signs
Constitutional symptoms
Episodic symptoms/events
Fever in kids
Heat intolerance/Warm all the time
Spells/Episodes of weakness
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Presentation/Painful peripheral neuropathy Boys Recurrent
Disease Progression
Course/Acute
Course/Acute only
Course/Chronic disease crisis/flare/attacks
Demographics & Risk Factors
Established Disease Population
Patient/Fabrys disease
Population Group
Child
Population/Pediatrics population
Young Adult
Sex & Age Groups
Population/Adult/all
Population/Boy patient
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Male
Population/Young adult
Associated Diseases & Rule outs
Associated Disease & Complications
Fabry disease crisis/syndrome
Hypertension in a child
Painful neuropathy
Peripheral neuropathy
Polyneuritis
Sensory neuropathy
Stroke /Young adult
Stroke/Child
Polyneuropathy
Disease Synergy - Causes
Synergy/Fever
Synergy/Heat stress
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Vasculopathy disorder (ex).
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Hereditary deafness
Process
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
Synonyms
Synonym
Alpha galactosidase A defic, ALPHA GALACTOSIDASE A DEFIC DIS, Alpha galactosidase A deficiency, alpha Galactosidase A Deficiency Disease, alpha galactosidase deficiency, Anderson Fabry, Anderson Fabry Disease, Angiokeratoma corporis diffusm, Angiokeratoma Corporis Diffusum, Angiokeratoma corporis diffusum universale, Cardiovasorenal syndrome, Ceramide lactoside lipidosis, Ceramide trihexosidase defic, Ceramide trihexosidase deficiency, CERAMIDE TRIHEXOSIDE LIPOIDOSIS (FABRYS DISEASE), CERAMIDE TRIHEXOSIDE LIPOIDOSIS FABRYS DISEASE, ceramide trihexosidosis, corporis diffusum angiokeratoma, Crises, Deficiency of alpha galactosidase, Deficiency of alpha galactosidase (disorder), Deficiency of melibiase, Disease Fabry, Fabry, FABRY DIS, Fabry disease, Fabrys Disease, Fabry's disease, Fabry's disease (disorder), GLA deficiency, Hereditary dystopic lipidosis, Lactosyl ceramidosis, Ruiter Pompen syndrome, Sweeley Klionsky disease, Thesaurismosis hereditaria, Thesaurismosis lipoidica, Trihexosidase deficiency disease, Synonym/GLA Deficiency (Fabry), Synonym/Thesaurismosis hereditaria lipidica (Fabry), Synonym/Thesaurismosis lipoidica (Fabry)
Treatment
Drug Therapy - Indication
RX/Directed Enzyme Replacement
Other Treatments
TX/Medical emergency
Definition

Hereditary storage disorder affecting vasculature, kidneys,

heart and skin; vasculopathy with eventual renal failure or heart failure; angiokeratosis early then myocardial infarcts, ischemic events and strokes, cardiomyopathy, angina, with LVH, mitral valve disease, Arrhythmias ;X-linked ceramide trihexose deposits in vasculature, heart, kidney and skin from failed lysosomal galactosidase-A; limited life span death in 5th decade usually;-------------------------

Anderson-Fabry disease; Anderson’s syndrome; Anderson-Fabry disease; Fabry’s syndrome; Fabry-Anderson disease; Morbus Anderson-Fabry; Ruiter-Pompen syndrome; Ruiter-Pompen-Wyers syndrome; Sweeley-Klionsky disease or syndrome; Alpha-galactosidase A (GLA) deficiency, angiokeratoma corporis diffusum, angiokeratoma corporis diffusum universalis, angioma corporis diffusum universale, cardiovasorenal syndrome, ceramide trihexosidosis, diffuse angiokeratosis, glycolipid lipidosis, hereditary dystopic lipoidosis, thesaurismosis hereditaria, thesaurismosis hereditaria lipidica, thesaurismosis lipoidica;

Anderson"s patient was a male aged 39 years who had an eruption on his trunk, genitals and proximal limbs; He recorded that the patient had been afflicted since childhood and that varicose veins, rectal bleeding and albuminuria had developed; Anderson termed the condition "angiokeratoma" and suggested that there might be generalised changes in the vascular system; Fabry conducted independent studies of an affected boy; In his article Fabry used the designation "purpura haemorrhagica nodularis"; Case by Fabry in 1915 under the title "Angiokeratoma corporis naeviforme". Fabry retained his interest in the disorder and published the autopsy findings after his patient"s death in 1930---[whonamedit_com 2005]---------------------------

Fabry disease is a rare genetic disorder of lipid metabolism characterized by a deficiency of the enzyme alpha-galactosidase A, also known as ceramidetrihexosidase; The disorder belongs to a group of diseases known as lysosomal storage disorders; Lysosomes function as the primary digestive units within cells; Enzymes within lysosomes break down or digest particular nutrients, such as certain fats and carbohydrates; Low levels or inactivity of the alpha-galactosidase A enzyme leads to the abnormal accumulation of a substance consisting of fatty material and carbohydrates (glycolipids such as glycosphingolipid) in various organs of the body, particularly blood vessels and the eyes; Symptoms of Fabry disease may include the appearance of clusters of wart-like discolorations on the skin (angiokeratomas), abdominal pain, and/or visual impairment; Later in the course of the disease, kidney failure, heart irregularities, and/or progressive neurological abnormalities may cause serious complications; Fabry disease, which is inherited as an X-linked recessive trait, primarily affects males

---[NORD 2005]-----------

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