Polskie Archiwum Medycyny Wewnętrznej
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Pol. Arch. Med. Wewn. · Nov 2024
Rare transthyretin gene variants (p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys and p.Phe53Leu): diagnostic pitfalls and clinical characteristics of Polish patients with transthyretin cardiac amyloidosis.
The knowledge about clinical features of Polish patients with hereditary type of transthyretin cardiac amyloidosis (hATTR-CA) is scant. ⋯ This study broadens our knowledge regarding genotype‑phenotype correlations of specific TTR variants, widens the spectrum of identified TTR variants in the Polish population, and shows limited value of [99mTc]Tc‑DPD scintigraphy in some patients with hATTR‑CA. In the cases with strong suspicion of ATTR‑CA and inconclusive [99mTc]Tc‑DPD scintigraphy results, genetic testing should be considered.
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Pol. Arch. Med. Wewn. · Nov 2024
ReviewChallenges in laboratory testing of patients suspected of antiphospholipid syndrome: practical implications for clinicians.
This paper focuses on laboratory tests necessary for a diagnosis of antiphospholipid syndrome (APS). The diagnosis starts with a selection of patients suspected of APS. Timing related to a clinical event is important to avoid false classification of APS patients. ⋯ Laboratory diagnosis of APS remains challenging. To increase the diagnostic efficacy and reliability, an integrated interpretation of all results and an interpretative comment should be provided on the laboratory report. Therefore, a close interaction between clinical pathologists and clinicians is mandatory.