Table 3 Clinical characterization and relative telomere length for individuals with variants identified in genes from Panel A.
ID patient | F12_P1 | F12_P2 | F13_P1 | F3_P1 | F1_P1 | F9_P1 | F11_P1 | F6_P1 | F8_P1 | F7_P1 | F7_P2 |
|---|---|---|---|---|---|---|---|---|---|---|---|
Gender | Male | Female | Male | Male | Male | Male | Female | Male | Female | Male | Female |
Age (years) | 56 | 64 | 56 | 46 | 83 | 67 | 64 | 74 | 67 | 46 | 58 |
Smoking | Yes | No | Yes | No | Yes | No | No | Yes | No | No | Yes |
Diagnosis | IPF | IPF | Emphysema/IPF | IPF | Emphysema/IPF | IPAF | IPF | IPF | IPF | Unclassifiable PF | Emphysema/IPF |
Disease onset (years) | 55 | 61 | 50 | 44 | 79 | 65 | 61 | 72 | 66 | 34 | 57 |
Family history | Two brothers with fibrotic ILD, hepatic disorder and bone marrow failure | Two brothers with fibrotic ILD, hepatic disorder and bone marrow failure | Brother with ILD and asthma. Father with unclassifiable PF | Father and two uncles with ILD | Three brothers and two cousins with ILD | Father with fibrotic ILD | Aunt and cousin with fibrotic ILD | Brother with ILD | Mother with fibrotic ILD | Mother with fibrotic ILD and sister with ILD | Mother and brother with ILD |
Lung transplant | Candidate | Candidate | Candidate | Candidate | No candidate | Candidate | Candidate | No candidate | Candidate | No candidate | Candidate |
Initial symptoms | Dyspnea | Dyspnea | Dyspnea | Dyspnea and cough | Dyspnea and cough | Cough | Dyspnea and cough | Dyspnea and cough | Dyspnea and cough | Dyspnea | Dyspnea and cough |
Time to death from diagnosis (months) | 24 | – | – | 48 | 60 | – | – | – | – | 12 | – |
Comorbidities | Thrombocytopenia | Asthma | Cryptogenic hepatic cirrhosis, type 2 diabetes | Epilepsy, cryptogenic liver disease, Thrombocytopenia, coxarthrosis | Treated tuberculosis; Lumbar canal stenosis L4-L5 | Hypertension, Avascular necrosis, polyarthritis, dyslipedemia | Gastroesophageal reflux | Hypertension, type 2 diabetes, dyslipidemia | Hypertension, dyslipidemia, chronic autoimmune thyroiditis | Cryptogenic cirrhosis | Dyslipidemia/ Migraine |
Treatment | Oxygen/ Antifibrotics Corticoesteroids | Antifibrotics | Antifibrotics | Antifibrotics | Oxygen/ Antifibrotics | Corticosteroids/ Antifibrotics | Antifibrotics | Antifibrotics/ Oxygen | Corticosteroids | ||
HRCT | UIP pattern | UIP pattern | Emphysema/ UIP pattern | UIP pattern | Emphysema/UIP pattern | UIP pattern | UIP pattern | UIP pattern | UIP pattern | Inconsistent with UIP | UIP pattern |
FVC (%) | 48 | 78 | 45 | 68 | 63 | 66 | 87 | 69 | 71 | 81 | 86 |
FEV1 (%) | 49 | 79 | 54 | 70 | 70 | 73 | 94 | 68 | 72 | 57 | 84 |
DLCO (%) | 42 | 60 | 48 | 36 | 36 | 58 | 62 | 49 | 46 | 12 | 76 |
Telomere length | 10-25 | <1 | <10 | <1 | <1 | <10 | 10-25 | 50-75 | <1 | unknown | 10-25 |
Variant | RTEL1 c.2920 C > T | RTEL1 c.2920 C > T | RTEL1 c.2920 C > T | NAF1 c.1104 T > G | TINF2 c.1108 C > T RTEL1 c.2935 C > T | RTEL1 c.2579 C > T | SFTPA2 c.482 G > A | SPDL1 c.892-2 A > G | RTEL1 c.3470 C > A | TERT c.2885 G > A | TERT c.2885 G > A |
