Leonardi Luca, Adam Clovis, Beaudonnet Guillemette, Beauvais Diane, Cauquil Cécile, Not Adeline, Morassi Olivier, Trassard Olivier, Echaniz-Laguna Andoni, Adams David, Labeyrie Céline
Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CERAMIC) and Department of Neurology, Bicêtre University Hospital, AP-HP, Le Kremlin Bicêtre, France.
Center for Neuromuscular and Rare Diseases, Neurology Unit, Sant'Andrea University Hospital, Rome, Italy.
J Peripher Nerv Syst. 2025 Mar;30(1):e12680. doi: 10.1111/jns.12680.
To assess the effectiveness of labial minor salivary gland biopsy (LSGB) alone or in combination with punch skin biopsy (SB) for the detection of amyloid deposits in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).
In this single-center retrospective study, Congo red staining of minimal invasive LSGB (4 mm) and SB (3 mm) was assessed in ATTRv-PN patients consecutively evaluated between 2012 and 2023.
Histopathological data of 171 ATTRv-PN, including 49 early-onset p.Val50Met, 58 late-onset p.Val50Met, and 64 non-p.Val50Met, were reviewed. LSGB and SB identified amyloid deposits in 123/171 (72%) and 131/171 (77%) patients respectively (p = 0.2). Combining LSGB and SB increased the amyloid detection rate to 150/171 (88%), especially in late-onset p.Val50Met (48/58 [83%]) and non-p.Val50Met patients (55/64 [86%]). LSGB and SB have a similar rate of detection of amyloid depositions in early onset p.Val50Met patients (94%). Also, the LSGB/SB combination identified amyloidosis in 89% (55/62) of early-stage ATTRv-PN patients.
In our study, combining LSGB and SB allowed the detection of amyloid deposits in 88% of ATTRv-PN patients. LSGB/SB analysis may be of major interest to confirm entry in the disease at very early-stage ATTRv-PN, with implications in disease-modifying treatment initiation.
评估单独使用唇小唾液腺活检（LSGB）或联合皮肤打孔活检（SB）检测遗传性转甲状腺素蛋白淀粉样变性多发性神经病（ATTRv-PN）中淀粉样沉积物的有效性。
在这项单中心回顾性研究中，对2012年至2023年间连续评估的ATTRv-PN患者的微创LSGB（4毫米）和SB（3毫米）进行刚果红染色评估。
回顾了171例ATTRv-PN患者的组织病理学数据，包括49例早发性p.Val50Met、58例晚发性p.Val50Met和64例非p.Val50Met患者。LSGB和SB分别在123/171（72%）和131/171（77%）的患者中检测到淀粉样沉积物（p = 0.2）。联合LSGB和SB可将淀粉样蛋白检测率提高到150/171（88%），尤其是在晚发性p.Val50Met（48/58 [83%]）和非p.Val50Met患者（55/64 [86%]）中。LSGB和SB在早发性p.Val50Met患者中检测淀粉样沉积物的比率相似（94%）。此外，LSGB/SB联合检测在89%（55/62）的早期ATTRv-PN患者中发现了淀粉样变性。
在我们的研究中，联合LSGB和SB可在88%的ATTRv-PN患者中检测到淀粉样沉积物。LSGB/SB分析对于在ATTRv-PN极早期确认疾病的纳入可能具有重要意义，这对启动疾病修饰治疗具有影响。
