Primary Cause of Death in Dyskeratosis Congenita

Understanding the Mortality Landscape

Bone marrow failure represents the principal cause of premature mortality in patients with dyskeratosis congenita, occurring as the natural progression of the disease 1, 2
Pulmonary complications, particularly pulmonary fibrosis, emerge as a major cause of death, especially in late adolescence or early adulthood 1, 2
Malignant transformation contributes to mortality, with increased risk of myelodysplastic syndrome, leukemia, and head and neck squamous cell carcinoma 2

All patients with dyskeratosis congenita have telomeres below the first percentile for age, leading to progressive hematopoietic failure 1, 2
The bone marrow failure typically manifests as progressive pancytopenia affecting multiple cell lines 2, 3
This creates vulnerability to life-threatening infections and bleeding complications even before other organ systems become critically affected 2, 3

The multisystem nature of dyskeratosis congenita means that patients face competing mortality risks from pulmonary fibrosis, liver cirrhosis, and malignancy 1, 2