Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece

• Published in: Hellenic journal of nuclear medicine Vol. 26; no. 2; pp. 145 - 149
• Main Authors: Panagiotopoulos, Ioannis, Papatheodorou, Efstathios, Anastasakis, Aris, Kastritis, Eustathios, Gourzi, Polyxeni, Kontogeorgiou, Zoi, Koutsis, Georgios, Karadima, Georgia, Koutelou, Maria
• Format: Journal Article
• Language: English
• Published: 01-05-2023
• ISSN: 1790-5427
• DOI: 10.1967/s002449912585

OBJECTIVETransthyretin cardiac amyloidosis (ATTR-CA) is a rare and potentially fatal disease caused by the accumulation of insoluble transthyretin (TTR) amyloid fibrils in the heart. The symptoms of ATTR-CA are often non-specific, often leading to underdiagnosis. Early diagnosis and treatment have a significant impact on disease progression and mortality.CASE PRESENTATIONIn this case we report a 73-year-old male presented with dyspnea on exertion. The patient had a medical history of peripheral neuropathy, bilateral carpal tunnel syndrome, spinal fusion, and a family history of coronary artery disease. Upon his presentation at the Cardiology department, cardiac echo study revealed left and right ventricular hypertrophy with pulmonary hypertension, diastolic dysfunction and a restrictive pattern. Because of the high probability of amyloidosis, the patient underwent a technetium-99m-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) bone scintigraphic study, which confirmed the diagnosis of ATTR-CA. Transthyretin gene sequencing analysis revealed the rare p. Pro24Ser pathogenic variant. Final diagnosis was ATTR-CA associated with the proline replaced by serine at position 24 (Pro24Ser) TTR variant, which is rare and only a few cases have been reported worldwide. The patient was treated with tafamidis and inotersen and followed up.CONCLUSIONThis case highlights the importance of considering amyloidosis as a differential diagnosis for non-specific symptoms and the need for early diagnosis and management of ATTR-CA.