Table 1.

Considerations in liver transplant evaluation and management of short telomere syndrome patients

Organ system involved	Considerations
Liver disease	*Follow DLCO and clinical symptoms of hypoxemia as early signs of HPS *Evaluate for portal hypertension/risk of gastrointestinal bleed *Note synthetic function usually retained and cirrhosis rare in young adults *Timely evaluation for PHS Increased risk or living donor transplant to reduce wait-list time
Pulmonary complications	*Avoid lung biopsy in diagnostic evaluation due to risk of respiratory failure *Minimize oxygen exposure to avoid alveolar damage *Vigilance for opportunistic infection post-operatively *Assess diffusion capacity decline relative to spirometry *Follow with pulmonary consultant familiar with STS-associated IPF
Infectious/Immune complications	*Consider CMV recipient risk and prophylaxis in non-HSCT patients *Consider reduction of IST in non-HSCT patients to reduce infectious risks *Follow with infectious disease and hematology consultants to manage risk of immune/hematologic complications
Musculoskeletal	*High index of suspicion for AVN with shoulder/hip pain symptoms *Refer to orthopedics early for definitive management
Malignancy	*Risk for MDS/AML increased in adults over 50 (non-HSCT) *Risk for squamous cell cancers especially in males with DKC1 mutations

Abbreviations: AVN: avascular necrosis; CMV: cytomegalovirus; DKC1: dyskeratosis congenita 1 gene (X-linked); DLCO: diffusion capacity for carbon monoxide; HPS: hepatopulmonary syndrome; IPF: Idiopathic Pulmonary Fibrosis; IST: immunosuppressive therapy; MDS/AML: myelodysplastic syndrome/acute myeloid leukemia; non-HSCT: patients who have not undergone hematopoietic stem cell transplant; PHS: The Public Health Service; STS: short telomere syndrome