Table 2.

Framework for diagnosis and management of common extrahematopoietic complications of the short telomere syndromes

Immunodeficiency

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

Hepatopulmonary syndrome

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

Telomere-related lung disease

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

DLCO, carbon monoxide diffusion capacity.