Patients with hereditary transthyretin amyloid cardiomyopathy (hATTR-CM) may be at an increased risk of post-organ transplant complications, according to a case report recently published in Transplantation Proceedings.
“Although some complications [of transplantation] are related to the surgical procedure or immunosuppression, others are increasingly being recognized as consequences of underlying genetic mutations,” the authors wrote.
The case report describes a woman who received a right lung transplant when she was 65 years old due to interstitial lung disease. Six years later, she developed difficulty breathing, fatigue, an intermittent cough and swelling in her feet and ankles. She also tested positive for Epstein-Barr virus (EBV), a form of herpesvirus present in nine out of 10 adults.
The patient had several pre-existing health conditions, including kidney disease, lupus, sleep apnea and an irregular heartbeat.
Read more about ATTR-CM causes and risk factors
The authors initially suspected post-transplant lymphoproliferative disease, a complication of transplantation often caused by EBV. A subsequent transthoracic echocardiogram revealed several signs consistent with cardiac amyloidosis.
Blood work revealed significantly elevated N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels, which indicated severe heart failure. Additional testing ruled out other forms of amyloidosis, including amyloid light-chain amyloidosis.
A Tc-99m pyrophosphate scan was then performed, the findings of which were consistent with ATTR-CM. A genetic test revealed a mutation in the TTR gene, confirming the final diagnosis of hATTR-CM.
The patient was prescribed tafamidis, a drug that works to stabilize transthyretin, as well as medications to address her heart failure. Her outcome was not reported in this study.
The authors hypothesize that long-term immunosuppression after the lung transplant combined with contracting the EBV virus led to the patient developing hATTR-CM. They also emphasize the fact that rare genetic conditions such as ATTR-CM may be an overlooked cause of post-transplant complications.
“Identifying genetic mutations pre-transplant could potentially alter post-transplant management strategies, including tailored surveillance and early intervention,” they concluded.
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