Hereditary transthyretin amyloidosis presenting with prominent autonomic dysfunction.
| Autor: | McCullagh M; Neurology, Altnagelvin Area Hospital, Derry, UK maryt.mccullagh@westerntrust.hscni.net., Hughes S; Cardiology, Altnagelvin Area Hospital, Derry, UK., Canning A; Cardiology, Altnagelvin Area Hospital, Derry, UK., Napier S; Pathology, Royal Victoria Hospital, Belfast, UK., Gillmore J; Centre for Amyloid and Acute Phase Proteins Division of Medicine, Royal Free Hospital, London, UK., McCarron MO; Neurology, Altnagelvin Area Hospital, Derry, UK. |
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| Jazyk: | angličtina |
| Zdroj: | Practical neurology [Pract Neurol] 2024 Jun 04. Date of Electronic Publication: 2024 Jun 04. |
| DOI: | 10.1136/pn-2023-004048 |
| Abstrakt: | A 56-year-old man reported 2 years of slowly progressive exertional fatigue, presyncope, paraesthesia, generalised weakness and nocturnal bowel frequency. He had an abnormal Valsalva ratio and significant postural hypotension. Serum N-terminal pro-B-type natriuretic peptide and troponin T were elevated. Transthoracic echocardiogram identified thickening of the biventricular walls, interatrial septum and atrioventricular valve leaflets. Global longitudinal strain was reduced with relative apical sparing, suspicious for cardiac amyloidosis. Technetium-99m and 3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy supported a diagnosis of transthyretin amyloidosis (ATTR). However, urinary Bence Jones protein (kappa) was identified despite a normal kappa/lambda light chain ratio and no serum paraprotein. Bone marrow and buccal biopsy provided histological confirmation of amyloid. The bone marrow had no evidence of plasma cell dyscrasia but positive TTR immunohistochemistry. The patient had a T60A genetic mutation for hereditary ATTR. Overlapping cardiac and autonomic symptoms prompt an amyloid workup, which then must distinguish AL amyloid from ATTR pathology. Competing Interests: Competing interests: JG has consulting income from Ionis, Alexion, Eidos, Intellia, Alnylam and Pfizer. (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.) |
| Databáze: | MEDLINE |
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