Table 1.
Patients and relatives socio-demographic characteristics and patients’ clinical variables
| Patients (N = 141) | Relatives (N = 69) | |||
|---|---|---|---|---|
| N | % | N | % | |
| Socio-demographic characteristics | ||||
| Gender | ||||
| Males | 106 | 75.2 | 15 | 21.7 |
| Females | 35 | 24.8 | 54 | 78.3 |
| Age, mean ± SD | 66.1 ± 11.09 | 57.2 ± 11.8 | ||
| Marital status | ||||
| Free | 34 | 25.2 | 9 | 10.5 |
| Married | 101 | 74.8 | 60 | 89.6 |
| Education | ||||
| Primary school | 18 | 14.3 | 10 | 14.7 |
| Secondary school | 42 | 33.3 | 14 | 20.6 |
| High school | 44 | 34.9 | 32 | 47.1 |
| University | 22 | 17.5 | 12 | 17.7 |
| Employed, yes | 41 | 29.5 | 32 | 47.1 |
| Relationship with the patient | – | |||
| Spouse | 51 | 75.0 | ||
| Other | 17 | 25.0 | ||
| Daily hours spent in caregiving, mean ± SD | – | 8.1 ± 9.7 | ||
| Clinical variables | ||||
| Mutation | ||||
| Val30Met | 39 | 27.6 | ||
| Phe64Leu | 33 | 23.4 | ||
| Glu89Gln | 25 | 17.7 | ||
| Ile68Leu | 14 | 9.9 | ||
| Val122Ile | 7 | 5 | ||
| Tyr78Phe | 7 | 5 | ||
| Thr49Ala | 6 | 4.3 | ||
| Other (n. 9) | 10 | 7.1 | ||
| Phenotype | – | |||
| ATTRv-PN | 111 | 78.7 | ||
| ATTRv-CM | 30 | 21.3 | ||
| ATTRv stage | – | |||
| 0 | 6 | 4.3 | ||
| 1 | 75 | 53.2 | ||
| 2 | 42 | 29.8 | ||
| 3 | 18 | 12.8 | ||
| Age at symptom onset, mean ± SD | 59.8 ± 11.8 | – | ||
| Length of symptom in years, mean ± SD | 6.2 ± 4.2 | – | ||
Mutation nomenclature follows the traditional classification which refers to the TTR protein (NCBI Reference Sequence: NP_000362.1; chromosome 18, NC_000018.10) without the first 20 amino acids of the leader peptide. For example, Val30Met corresponds to p.(Val50Met) if one follows the Human Genome Variation Society (HGVS) nomenclature (https://www.hgvs.org/content/guidelines)