Fabry disease is an inherited disorder where patients do not produce enough of the enzyme alpha-galactosidase A, which prevents fat-like sphingolipids from collecting in blood vessels and tissues. This can affect the heart, kidneys, brain, nervous system, and skin. There are two main types: classic Fabry disease begins in childhood/teenage years and gets progressively worse over time, while late-onset/atypical type has symptoms starting in the 30s or older. Symptoms include pain, tingling or burning in hands/feet, heart or kidney problems, skin lesions, and others. Treatment involves enzyme replacement therapy via IV every two weeks or oral medication to repair faulty enzymes. Complications can

1. FABRY'SDISEASE

2. Fabrydiseaseisaninheriteddisorder
Patients produce enough healthy versions of an
enzyme (blood chemical) called alpha-
galactosidaseA(alpha-GAL).
These enzymes prevent sphingolipids, a fat-like
substance, from collecting in blood vessels and
tissue.
Itaffectstheheart,kidneys,brain,centralnervous
system,andskin.

3. TypesofFabrydisease
Classic type: Symptoms of classic Fabry disease appear during
childhood or the teenage years. One hallmark disease symptom
— a painful burning sensation in the hands and feet — may be
noticeable as early as age two. Symptoms get progressively
worseovertime.
Late-onset/atypical type: People with late-onset Fabry disease
don’t have symptoms until they’re in their 30s or older. The first
indicationofaproblemmaybekidneyfailureorheartdisease.

4. Approximately one out of every 40,000 males
haveclassicFabrydisease.
Late-onset or atypical Fabry disease is more
common.
Itaffectsaboutoneinevery1,500to4,000males.

5. SYMPTOMS
Numbness,tingling,burning,orpaininthehands
orfeet.
Extremepainduringphysicalactivity.
Heatorcoldintolerance.
Abnormalopacityoftheeye(cornea),whichdoes
notchangesomeone’svision.
Dizziness.
Flu-likesymptoms,includingfatigue,fever,and
bodyaches.

6. Gastrointestinal problems, such as diarrhea,
constipationandabdominalpain.
Hearinglossorringinginears(tinnitus).
Highlevelsofproteininurine(proteinuria).
Raised red or purplish skin lesions (angiokeratoma)
onyourchest,backandinthegenitalarea.
Sweating less (hypohidrosis) or not at all
(anhidrosis).
Swelling(edema)inthelegs,anklesorfeet.

7. DIAGNOSIS
Enzymeassay
DNA Sequencing
NewbornScreening

8. MANAGEMENTANDTREATMENT
Thereisn’tacureforFabrydisease.
Medicationsforpainandstomachproblemscan
easesymptoms
Enzymereplacementtherapy: Everytwoweeks,you
receiveanintravenous(IV)infusionoflab-made
agalsidasebetaenzyme(Fabrazyme®).
Thisreplacementenzymedoestheworkofthemissing
alpha-GALenzymesothatfattysubstancesdon’tbuildup.

9. Oralchaperonetherapy: Chaperonesaresmallmolecules
thatrepairfaultyalpha-GALenzymes.
Themendedenzymescanthenbreakdownthefatty
substance.
Withthistherapy,youtakeapill(migalastat[Galafold®])
everyotherdaytostabilizethefaultyalpha-GALenzyme.

10. COMPLICATIONS
Heartproblemsincludearrhythmia,heartattacks,
enlargedheart,andheartfailure.
Kidneyfailure.
Nervedamage(peripheralneuropathy).
Strokes,includingtransientischemicattacks(TIAor
ministrokes).