Telomere and telomerase in chronic liver disease and hepatocarcinoma

Table 1 Telomere erosion and human disease

	Telomerase mutations as genetic determinants	Telomerase mutations as genetic risk factors
Characteristics	High penetrance	Low penetrance
	Childhood onset disease	Adult onset disease
	Congenital clinical manifestations	Single or multiple organs
Disease	Dyskeratosis congenita	Aplastic anemia
		Lung fibrosis
		Liver cirrhosis
		Telomere syndromes

Telomerase mutations may be highly penetrant causing congenital clinical manifestations as in dyskeratosis congenita or may be less penetrant and manifest in adult life inducing single or multiple organ damage[7].

Table 2 Telomere syndromes

Spectrum of features in bone marrow, lung and liver disease
Haematologic
Macrocytosis
Isolated cytopenias
Plastic anemias
Myelodysplasia
Acute myeloid leukemia
Pulmonary
Asymptomatic restrictive defects on lung function tests
Idiopathic pulmonary fibrosis
Nonspecific interstitial pneumonia
Idiopathic interstitial pneumonias
Liver
Mildly elevated transaminases
Atrophic nodular liver at imaging studies
Splenomegaly
Cryptogenic liver fibrosis/cirrhosis

Mutant telomere genes and telomere shortening do not cause only a single organ damage such as idiopathic pulmonary fibrosis (IPF), aplastic anemia or liver cirrhosis but often the affected patient has also subclinical disease concurrently in other organs even if the symptoms of a single organ predominate[17].