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Table 1 Patients and relatives socio-demographic characteristics and patients’ clinical variables

From: Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy

 

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

 

 
  1. 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)