Table 2.
Baseline characteristics of Fabry-associated organ manifestations and symptoms in patients with the D313Y genotype
| Variable/participant (#) | 1 | 2 | 3 | 4 | 5 | 6 | Mean±SD/% |
|---|---|---|---|---|---|---|---|
| Gender (male/female) | Male | Female | Female | Female | Female | Female | 1/6 (17/83%) |
| Renal | |||||||
| Serum-creatinine (mg/dL) | 0.8 | 0.7 | 0.8 | 0.7 | 0.67 | 0.85 | 0.8±0.1 |
| Cystatin C (mg/L) | 0.62 | 0.55 | 0.71 | 0.71 | 0.74 | 0.90 | 0.7±0.1 |
| GFR in 99Tc-DTPA Clearance (mL/min) | 124 | 123 | 130 | 125 | 129 | 113 | 124±6 |
| eGFR (mL/min/1.73 qm) | 108 | 112 | 98 | 97 | 122 | 78 | 103±15 |
| UACR (mg/gL) | LLOQ | LLOQ | LLOQ | 5.8 | LLOQ | LLOQ | LLOQ |
| UPCR (mg/gL) | 79 | 72 | <50 | 56 | 52 | <50 | 60 |
| Fabry-associated organ manifestations | |||||||
| Angiokeratoma | no | no | no | no | yes | no | 17 |
| Cornea verticillata | no | no | no | no | no | no | 0 |
| Frequent diarrhoea | yes | no | no | no | no | no | 17 |
| Vertigo | no | no | yes | no | no | yes | 33 |
| Tinnitus | no | no | yes | no | no | no | 17 |
| Neurology | |||||||
| Hypohidrosis | no | no | yes | no | no | yes | 33 |
| Heat intolerance | no | no | yes | yes | no | yes | 50 |
| Cold intolerance | no | no | no | no | no | no | 0 |
| History of TIA | no | no | (yes) | yes | no | no | 33 |
| History of cerebrovascular insult | no | no | no | no | no | no | 0 |
| White matter lesions | NA | no | no | no | no | yes | 20 |
| Pain other than Fabry-associated | yes | no | yes | no | no | yes | 50 |
| Fabry-associated pain* | |||||||
| Pain attacks† | no | no | no | no | no | no | 0 |
| Pain crises‡ | no | no | no | no | no | no | 0 |
| Evoked pain§ | no | no | no | no | no | no | 0 |
| Permanent pain¶ | no | no | no | no | no | no | 0 |
| Health related quality of life (SF-36) | |||||||
| Physical functioning | 80 | 100 | 80 | 90 | NA | 85 | 87±8 |
| Role physical | 25 | 100 | 50 | 100 | NA | 75 | 70±33 |
| Bodily pain | 31 | 41 | 41 | 100 | NA | 51 | 53±27 |
| General Health | 57 | 87 | 25 | 57 | NA | 57 | 57±22 |
| Vitality | 40 | 75 | 35 | 70 | NA | 80 | 60±21 |
| Social functioning | 87.5 | 100 | 62.5 | 100 | NA | 87.5 | 88±15 |
| Role emotional | 33.33 | 100 | 100 | 100 | NA | 100 | 87±30 |
| Mental health | 40 | 88 | 60 | 72 | NA | 76 | 67±18 |
| Physical component summary score | 42.2 | 49.44 | 35.87 | 53.72 | NA | 43.28 | 45±7 |
| Mental component summary score | 36.85 | 56.62 | 46.37 | 52.54 | NA | 56.68 | 50±9 |
Participants #1–3 later also underwent clinical follow-up.
*Fabry-associated pain=characteristic pain phenotypes (pain attacks, pain crises, evoked pain, permanent pain) reported by patients with Fabry disease.
†pain attacks=mostly triggered episodic pain that starts suddenly, remains for a certain time period and then disappears.
‡pain crisis=episodic pain of extreme severity; starts mostly at hands and feet and spreads over the entire body lasting for hours and/or days; mostly resistant to analgesic treatment.
§evoked pain=allodynia (pain on stimulation with a non-painful stimulus) and/or hyperalgesia (increased pain sensitivity on stimulation with a painful stimulus).
¶permanent pain=pain that is present for 24 h or during most of the time of a day.
Cystatin c, reference: 0.61–0.95 mg/dL.
GFR, glomerular filtration rate; serum-creatinine reference: 0–0.95 mg/dL; eGFR, estimated GFR (MDRD formula); LLOQ, lower limit of quantification; NA, not available; TIA, transient ischaemic attack; UACR, urinary albumin-to-creatinine ratio, reference: <30 mg/g creatinine; UPCR, urinary protein-to-creatinine ratio, reference: <70 mg/g creatinine.