Multiple Solid Organ Transplantation in Telomeropathy: Case Series and Literature Review

Abstract

To our knowledge, this is the first report of multiple solid organ transplantation in documented telomeropathy. These cases highlight current difficulties of timely diagnosis, therapeutic approach, and postoperative complications in telomeropathy patients in whom several organs are affected.

Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenita

“…In turn, the demand for solid organ transplants is expected to increase. To date, lung transplantation has been performed mainly for pulmonary fibrosis, with considerably favorable outcomes in adult patients with DC, unlike outcomes of LT 8,10 . As evidenced in the present case by the rapid deterioration of liver function after several interventions and sepsis, persisting hypoxemia requiring intensive care after LT can irreversibly damage the transplanted liver.…”

“…Recently, lung transplantations and LTs have been performed in patients with DC with pulmonary fibrosis and chronic liver disease, respectively 5‐9 . It has been reported that some patients with telomeropathies require multiple solid organ transplantations 10 …”

Combined Lung and Liver Transplantation for Short Telomere Syndrome

“…Indeed, to our knowledge, this is only the second case of combined lung and liver transplantation, which was performed after careful risk assessment of this procedure in a 52-yearold patient with associated bone marrow and bone disease. (6) The decision to perform combined lung and liver transplantation was driven mainly by the increased risk of postoperative liver decompensation linked to significant portal hypertension. Moreover, concomitant hepatopulmonary syndrome represented an additional argument for combined transplantation.…”

Selection Criteria for Lung Transplantation: Controversies and New Developments

“…Mutations in TERC or TERT are found in approximately 20 and 3% of familial and sporadic IPF cases, respectively, whereas TERC or TERT mutations are very rare in the general population. [139][140][141][142][143] Telomerase dysfunction leads to premature telomere shortening, cellular senescence, and apoptosis. Also, this may be the reason why these patients are more prone to cytomegalovirus infections.…”

“…Bone marrow failure is the most frequent extrapulmonary manifestation, and is often first detected as isolated thrombocytopenia, with a hypocellular bone marrow. 139,[141][142][143] Data on clinical outcomes of lung transplant patients with underlying telomeropathy are scarce, but this group of patients tends to develop recurrent and otherwise unusual complications that reflect the syndromic nature of their disease. Reported survival rates vary substantially, ranging from 33 to 100% after a follow-up of 1.2 up to 3.2 years.…”