Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis

Respiratory Research

Table 4 Histopathologic, radiologic and clinical findings of the patients with familial pulmonary fibrosis with histologic investigation of lung tissue

Case	Genetic testing	Histological patterns and additional features	Histological Categorization 2022	Radiological Categorization 2022	Clinical diagnosis
1.	TERC	UIP, constrictive bronchiolitis	Indeterminate for UIP	Probable UIP	IPF
2.	^a	UIP	UIP	UIP	IPF
3.	^a	UIP	UIP	UIP	IPF
4.	TERT	UIP, HP, chronic inflammation	Indeterminate for UIP	Probable UIP	IPF
5.	^b	UIP, HP, chronic inflammation	Indeterminate for UIP	Indeterminate for UIP	IPF
6.	^a	UIP (mild), RB-ILD	UIP	Indeterminate for UIP	IPF
7.	^a	UIP, bronchiolocentric fibrosis	Indeterminate for UIP	Probable UIP	IPF
8.	^a	UIP, bronchiolocentric fibrosis	Indeterminate for UIP	UIP	IPF
9.	^b	UIP, chronic inflammation, bronchiolocentric fibrosis	Indeterminate for UIP	Probable UIP	CTD-ILD
10.	^a	Unclassified fibrosis	Alternative	Probable UIP	IPF
11.	^a	UIP	UIP	UIP	IPF
12.	^a	UIP, HP	Indeterminate for UIP	UIP	IPF
13.	TERC	Granulomatous reaction/ subacute and chronic HP, PPFE	Indeterminate for UIP	UIP	Unclassified
14.	^a	UIP	UIP	UIP	IPF
15.	RTEL1	UIP, organizing pneumonia	UIP	Indeterminate for UIP	IPF
16.	TERT	UIP	UIP	UIP	IPF
17.	^a	UIP (focal changes)	Probable UIP	Alternative diagnosis	Fibrotic NSIP

Cases 1-16 surgical lung biopsies, case 17 autopsy
CTD-ILD connective tissue disease associated interstitial lung disease, HP hypersensitivity pneumonia, IPF idiopathic pulmonary fibrosis, NSIP nonspecific interstitial pneumonia, PPFE pleuroparenchymal fibroelastosis, RBILD respiratory bronchiolitis interstitial lung disease, RTEL1 regulator of telomere elongation helicase 1, TERC telomerase RNA component, TERT telomerase reverse transcriptase, UIP usual interstitial pneumonia
^aGenetic testing not done
^bGenetic testing done resulted in no known pathogenic variants

ISSN: 1465-993X