At short telomere syndrome diagnosis, consider the following:

 • Lymphocyte subsets

 • Immunoglobulin levels (infants and where otherwise indicated clinically)

Management of severe immunodeficiency:

 • Refer to center with experience in allogeneic stem cell transplant in patients with short telomere syndromes

 • Consultation with infectious disease specialist when indicated

At short telomere syndrome diagnosis:

 • Regular (1-2 y) history and physical examination to assess for symptoms and check for digital clubbing

Diagnostic evaluation of dyspnea:

 • Agitated saline echocardiogram

 • Pulmonary function test with DLCO and assess for discordance with spirometry

Management:

 • Refer to experienced liver transplant center

At short telomere syndrome diagnosis:

 • Educate and counsel patients to seek attention for symptoms of dyspnea/cough

 • Discuss risks and benefits of high-resolution CT of the chest in asymptomatic individuals aged >40 y

 • Counsel on avoidance of environmental toxins (smoking) and oxygen (iatrogenic during elective procedures)

Management:

 • Refer to pulmonologist with experience with telomere disorders

 • Avoid immunosuppression as therapeutic strategy

 • Evaluate for lung transplant at experienced center when patient is eligible