06 August 2021
: Case report 
First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia
Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)
Andy Sing Ong Tang1ABCDEF*, Qi Ying Wong1BCD, Ingrid Pao Lin Ting
1BCD, Panting Selvesten1BC, Siaw Tze Yeo1BCDE, Lee Ping Chew2DEF, Tem Lom Fam1DEG, Clare Hui Hong Tan3EFG
DOI: 10.12659/AJCR.932923
Am J Case Rep 2021; 22:e932923
Table 1. Diagnosis, characteristics, and clinical presentation of index patients with Fabry disease.
| Index patient | ||
|---|---|---|
| 1 | 2 | |
| Age at diagnosis, y | 39 | 62 |
| Ethnicity | Malay | Chinese |
| CKD stage at diagnosis (KDIGO classification criteria) | 3b | 5 |
| eGFR (CKD-epi formula), mL/min/1.73 m | 39 | 5 |
| Daily protein loss, g | 3.15 | Anuria |
| Dialysis dependent | – | + |
| Hypertension | – | + |
| Angiokeratoma | + | – |
| Neuropathy/acroparesthesia | – | – |
| Eye abnormalities | Cornea verticillata | – |
| Gastrointestinal symptoms | – | – |
| Cerebrovascular | – | – |
| Hypohydrosis | – | – |
| Time of first symptoms until DBS, y | 9 | 4 |
| GLA activity, µmol/L/h | 0 | 2.4 |
| Lyso-Gb3 level, ng/mL | 22.0 | 1.2 |
| mutation | c.610 T>C [p.Trp204Arg] | c.548-5T>A |
| Phenotype | Classic | Unknown |
| Kidney biopsy | + | NP |
| Pro-BNP, pg/mL | 821 | >9000 |
| Echocardiography findings | ||
| Patterns of LVH | Concentric | Concentric |
| Interventricular wall thickness, mm | 13.5 | 14.4 |
| Posterior wall thickness, mm | 14.4 | 16.1 |
| LV end-diastolic diameter, mm | 49.1 | 51.8 |
| LV end-systolic diameter, mm | 31.3 | 31.9 |
| Ejection fraction, % | 64.5 | 65.1 |
| LV mass index, g/m | 177 | 270 |
| Number of affected relatives | 7 | 5 |
| On enzyme replacement therapy | Yes (Fabrazyme (agalsidase beta), 1 mg/kg every 2 weeks | No |
| ‘–‘ – negative; ‘+’ – positive; CKD – chronic kidney disease; DBS – dried blood spot; eGFR – estimated glomerular filtration rate; KDIGO – Kidney Disease: Improving Global Outcomes; LV – left ventricle; NP – not performed; Pro-BNP – pro-B-type natriuretic peptide. * Reference value: ≥2.8 µmol/L/h; ** Reference value: ≤3.5 ng/mL. | ||