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My Name is Fabry

My Name is Fabry. Laura S Gilmore, MD Department of Ophthalmology TTUHSC September 10, 2004 Discussants: Kelly Mitchell, MD Kenn Freedman, MD. Case Presentation. CC: Loss of vision, chest pain

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My Name is Fabry

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  1. My Name is Fabry • Laura S Gilmore, MD • Department of Ophthalmology • TTUHSC • September 10, 2004 • Discussants: Kelly Mitchell, MD Kenn Freedman, MD

  2. Case Presentation CC: Loss of vision, chest pain HPI: 55yo HF with sudden onset of visual loss OD approximately two hours prior to presentation in ED P.O.H.: CRAO OS 1 week ago P.M.H.: HTN. ESRD. CAD s/p CABG. CVA. NQWMI. Meds: Procardia. Lipitor. Clonidine. ASA. Tylenol S.H.: Denies tobacco/alcohol. F.H.: CA, CAD. Denies family history of ocular disease. R.O.S.: +chest pain, s/p NQWMI 1 week ago. Persistent visual loss OS, new visual loss OD. No HA, scalp tenderness, jaw claudication, anorexia, dizziness, tinnitus. No recent change in weight.

  3. Physical Exam/Initial Workup VS: BP 180/104 (228/110 1 week prior) EKG: new NQWMI, old NQWMI VA sc: HM at 6” OD, LP OS Pupils: 6 NR OU CT/MRI: normal IOP: 16, 13 ESR: 12 E.O.M.: Full O.U. S.L.E.: mild subepithelial infiltrates OU D.F.E.: pale fundi OU with macular cilioretinal sparing OD, cherry-red spot OU. Tortuous retinal vessels OU. 1+ ONH pallor. 2+ NFL edema

  4. Additional History (provided by family) • Patient’s brother and nephew with Fabry’s, with multiple CVA’s and MI’s in late 20’s and early 30’s; died in early 30’s • Patient’s 24 yo son with Fabry’s, first CVA at age 17, on ERT since. • Patient tested-leukocyte alpha-galactosidase A level low

  5. CRAO • Demographics: • 50-80yo; 1/10,000 incidence • Sudden, painless, unilateral vision loss;1-2% bilateral • Findings: • Diffusely pale retina • Cherry-red macula • Treatment/Outcome: • Neovascularization uncommon (16%) • Treatment targeted at restoring blood flow • Visual loss generally severe, persistent despite efforts

  6. Outcome • Vision at presentation often CF to LP and remains so in spite of treatment • If improved, often only one-quarter line of Snellen acuity improvement; in some reports, 35% get VA of 20/200 and 20% get 20/40 • GCA is high on differential, and can lead to severe bilateral vision loss if undetected • Overall significantly reduced survival rate, mostly due to cardiac disease

  7. Things to Keep in Mind with CRAO • Between 2 and 10% from GCA • 75% have carotid atherosclerosis or systemic HTN • Cardiac emboli • Collagen vascular disease • Migrainous vasospasm • Compressive lesions-optic nerve drusen, papillitis, papilledema, AION, retrobulbar injection, CRVO, neoplasm • Blood dyscrasias-Sickle Cell Disease • Antiphospholipid syndrome • Idiopathic • Lipid storage disease?-Fabry’s-one other case report

  8. Workup • ESR, CRP and homocysteine levels normal • BP evaluation • EKG-NQWMI • Lipid and cholesterol levels-normal • Coagulation studies-normal • Cardiology eval-Carotid ultrasound negative for stenosis bilaterally; ECHO showed mild LVH, no valvular vegetations or abnormalities, no septal defect, no thrombus • CT and MRI-no acute findings

  9. Fabry’s • First described in 1898 • X-linked recessive lipid storage disorder • Defect in alpha-Galactosidase A, which breaks down globotriasolyceramide, or Gb3 • Gb3 Accumulates in vascular endothelium of kidneys, heart, nerves, blood vessels

  10. More Overview • Widely variable presentation • Diagnosis often delayed or overlooked-average age of symptom onset is 10.5 years, average age of diagnosis is 28.5 years • Rare-1/40,000 males • All ethnicities • Some females express varying clinical features, despite being X-linked • Heterozygous women are usually asymptomatic or are only minimally affected

  11. Signs and Symptoms • Clouding of cornea-corneal whorls or opacification • Burning sensations in hands and feet, worse with exercise and hot weather • Heat or cold intolerance • Impaired sweating • Small raised, reddish-purple blemishes on the skin-angiokeratoma • Impairment of arterial circulation-risk for MI and CVA • Renal failure-dialysis or transplant • GI difficulties • Recurrent fever

  12. Ocular Manifestations of Fabry’s • Characteristic cream-colored, whorl-like corneal opacity • Tortuosity of conjunctival and retinal vessels • Cream-colored anterior lens capsular deposits • Posterior capsular opacity with a radial pattern. • The whorl-like corneal opacity that is sometimes called “cornea verticillata” is seen in almost all of the heterozygotes, more prominently than in the hemizygotes.

  13. Diagnostic Testing • Histopathologic examination of skin biopsy • Low alpha-galactosidase activity in leukocytes • Genetic examination

  14. Course • Most survive into adulthood • At risk for heart attack, stroke, kidney damage • Enzyme replacement therapy has been approved • Mainly treat symptoms

  15. Treatment • Monitor kidney function-low protein diet, dialysis, or transplant • Heart problems including angina, enlargement, valve abnormalities-medical management, angioplasty, bypass, pacemaker • Cerebrovascular-anticoagulation • Tegretol or dilantin for pain in extremities, avoid certain strenuous activities, increase liquid intake, frequent breaks, be prepared for changing weather • Metaclopramide, low fat diet for GI symptoms of pain, nausea, diarrhea • Removal of skin rash with laser

  16. Conclusion • CRAO and Fabry's are rare • Fabry’s as the cause of CRAO is rarer still (only one reported case) • A bilateral case of CRAO requires a thorough workup because those hoofbeats might belong to a zebra Any Questions???

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