MGR FABRY DISEASE 순환기내과 R 1 황인경 / Prof. 김우식

심 O 주 (F/47) Adm. :  Chief complaint  LV Hypertrophy o/s>  Present illness  F/47, 선교사로 카자흐스탄 거주하는 자로 특이 증상 없이 2010 년 6 월 21 일 본원 OBGY 에서 uterine myoma 수술 전 시행한 EKG 에서 LVH strain pattern 나와 이에 대한 evaluation 및 치료 위해 입원함. History

Past Medical History  DM/HTN/TBc/Hepatitis(-/-/-/-)  Medication Hx (-)  Op Hx(+): 1. OP d/t myoma, ut. (2007 년 6 월 ) 2. OP d/t hyperhidrosis (1990 년 )  Personal Hx  Alcohol(-)  Smoking(-)

Family History  Son:  r/o Fabry disease M/14, 6 년 전부터 운동 및 스트레스시 손가락, 발가락 끝에 바늘로 찌르는 듯 한 심한 통증있던 중 모친 LVH 발견되 면서 Fabry disease 의심되어 evaluation 중.

Review of System 1. General Generalized weakness(-) Fever(-) Chill(-) Myalgia(-)Weight change(-) 2. Skin Rash(-) Pigmentation(-) Urticaria(-) Itching(-) 3. HEENT Headache(-)Dizziness(-) Otalgia(-) Otorrhea(-)hearing disturbance(-) Nasal obstruction(-) Rhinorrhea(-)Sore throat(-)Swallowing difficulty(-) 4. Respiratory Dyspnea(-) Cough(-)Sputum(-) Pleuritic pain(-) 5. Cardiac Chest pain(-) Orthpnea(-)DOE(-) Palpitation(-)

Review of System 6. Abdominal A/N/V/D/C(-/-/-/-/-) Dysphagia(-) Bowel habit change(-) Abd. Pain(-) Hematochezia(-) Melena(-) 7. Renal/Urinary Dysuria(-) Incontinence(-) Frequency(-) Urgency(-)Hematuria(-) Nocturia(-) 8. Musculoskeletal Pain(-) Swelling(-) Tenderness(-) 9. Nervous Dizziness(-) Syncope(-) Seizure(-)

Physical Examination Height : 153 cm Weight : 53 kg BMI : 22.6 kg/m 2 Vital Sign : 120/80 mmHg - 66/min - 20/min – 36.2 ℃ 1. General appearance Alert consciousness Not-ill looking appearance 2. Head & neck Normocephaly, LN enlargement(-), Neck vein engorgement(-) 3. E/ENT Isocoric pupil c PLR(++/++) Pinkish conjunctiva, clear sclera Pharyngeal injection(-), PTH(-/-)

Physical Examination 4. Chest Symmetric chest expansion Clear breathing sound without rale/wheezing Regular Heart Beat without murmur 5. Abdomen Soft / flat abdomen Normoactive bowel sound Tenderness(-), Rebound Tenderness(-) Palpable mass(-), Hepatomegaly(-) 6. Back & extremities CVA Td(-/-) Pretibial pitting edema(-/-) 7. Neurology motor - intact sensoty - intact

Initial Lab Finding 1.CBC/DC 7940 / ㎕ – 15.3 g/ ㎗ – 46.1 % - 250,000 / ㎕ (seg : 53.4%) aPTT 30.8 sec PT INR Chemistry TB / DB 0.30/ 0.08 mg/ ㎗ BUN/Cr 8 / 0.6 mg/dL Protein/Albumin 7.7 / 4.3 g/ ㎗ Na/K/Cl 140 / 3.7 / 106 mEq/L AST/ALT 28 / 17 U/L Ca/P/Mg 8.8 / 4.0 / 2.4 mg/dL ALP/rGT 52 / 20 U/L Uric acid 4.4 mg/dL CK 119 U/L CRP < 0.3 mg/dL CK-MB/TnI 11.3/0.09 ng/mL LD 589 U/L 3.UA RBC 2~4 /HPF WBC 0~1 /HPF Blood +- Protein - Glucose - Bilirubin -

Initial Chest X-ray

Initial ECG

Echocardiogram

Initial Problem Lists #1. LV Hypertrophy (decreased CFR) #2. elevated cardiac ma r ker #3. Family history of Fabry disease

Initial Assessment and Plan #1. LV Hypertrophy #2. elevated cardiac marker #3. Family history of Fabry disease A) r/o Fabry disease P) Diagnostic plan 1) Alpha-galactosidase A activity (screen) 2) GLA gene mutation test (confirm) 3) cardiac biopsy, Heart MRI 4) Spot urine, Ocular examination 5) Analysis of pedigree

Initial Assessment and Plan #1. LV Hypertrophy #2. elevated cardiac marker #3. Family history of Fabry disease A) r/o Fabry disease P) Theraputic plan 1) b-bloker 2) 2 주마다 fabrazyme IV 3) f/u EKG, Echocardiogram every year

1) Alpha-galactosidase A activity Screened for the  -Gal A activity 16.4 pmol/punch/hr

2) GLA gene mutation test Nonsense mutation, c.861G>A (p.Trp287X)

Heart, biopsy : Deposition disease (irregular sieve like deposits in the muscle tissue PAS positive depostis) 3) Cardiac biopsy

3) Heart MRI

4) Spot urine  Urine protein 10mg/dl  Urine Creatinine 88mg/dl

4) Ocular examination

Tortuosity of conjunctival vessel and aneurysmal dilatation

Cornea verticillata (+)

Lenticular opacity (-)

Retinal vascular tortuosity (-)

Final Diagnosis Fabry disease

Family History  Fabry disease Ⅰ Ⅱ Ⅲ ?? ?? ??

Treatment Course ‘11 6/218/228/8 7/22 Adm D/C dilatrend Fabrazyme IV every 2 weeks Fabrazyme IV every 2 weeks Fabrazyme IV every 2 weeks LVH Fabry disease

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