516 Prevalence of carpal tunnel syndrome in patients with transthyretin cardiac amyloidosis

Aims Carpal tunnel syndrome (CTS) represents an important red flag for transthyretin (ATTR) cardiac amyloidosis (CA). However, no large studies have investigated the prevalence of CTS in wild type ATTR (wtATTR) and hereditary ATTR (hATTR). To investigate the prevalence of CTS in patients with ATTR-CA, both wild type and hereditary, differentiating between monolateral and bilateral carpal tunnel syndrome. Methods and results 381 patients, 308 male and 73 female, with a definite diagnosis of ATTR CA have been evaluated. Among these, 230 patients with diagnosis of wild-type ATTR (wtATTR) and 151 patients with hereditary ATTR (hATTR) were identified. Patients with diagnosis of hATTR are sorted according to phenotype in cardiologic (43 patients) and mixed when both cardiologic and neurologic phenotype are observed (108 patients). Patients with neurological phenotype without CA were excluded. Overall, CTS is present in 57.6% of ATTR patients; A higher prevalence (P < 0.05) of CTS was observed in wtATTR (61.6%) respect to hATTR (51.7%). Monolateral isolated CTS is significantly frequent (P < 0.05) in patients with hATTR (35.1%) than in wtATTR (12.7%), on the contrary bilateral CTS is significantly more frequent (P < 0.05) in patients with wtATTR (48.5%) than in hATTR (16.6%). Among patients with hATTR, of the 43 patients with cardiologic phenotype, 18 patients (41.9%) have diagnosis of CTS, subdivided in 28% with monolateral CTS and 72% with bilateral CTS. Among hATTR patients with mixed phenotype, 55.6% have diagnosis of CTS, subdivided in 80% with monolateral isolated CTS and 20% with bilateral CTS. Among 151 patients with hATTR, monolateral isolated CTS is significantly more present in patients with mixed phenotype (80% vs. 27%, P < 0.001) while bilateral CTS is significantly more frequent in patients with cardiologic phenotype (72.2% vs. 20%, P < 0.001). Conclusions CTS particularly with bilateral involvement is a common finding in wtATTR patients than in hATTR patients. On the contrary, monolateral isolated CTS is significantly more frequent in patients with hATTR than in wtATTR. Among patients with hATTR, bilateral CTS is significantly more frequent in patients with cardiologic phenotype than mixed phenotype while monolateral isolated CTS is significantly more present in patients with mixed phenotype.

Clinical characteristics of patients with hereditary transthyretin mutations primarily associated with cardiomyopathy and other rare transthyretin mutations: insights from a genetic testing programme

Background/Introduction Hereditary transthyretin amyloidosis (hATTR; ATTRv) is a progressive, fatal disease caused by mutations in the transthyretin gene (TTR) that results in deposition of amyloid throughout the body, including in the heart. The p.V142I and p.T80A mutations typically manifest with a cardiomyopathy (CM) phenotype. Early diagnosis, which can be facilitated by genetic testing, is key to achieving optimal patient outcomes. Purpose To characterise the clinical profile and symptom burden of patients with hereditary transthyretin mutations associated primarily with a CM phenotype and rare hereditary transthyretin mutations. Methods This analysis used data from hATTR Compass, a genetic testing programme in the United States and Canada for patients suspected of having hATTR with polyneuropathy (PN) and patients with a family history of hATTR. Sequencing was performed using a TTR single-gene test, a gene panel of inherited cardiovascular disorders (CardioNext), or a gene panel of inherited neuromuscular disorders (NeuropathySelect). Akcea is aware of isolated data quality issues. Importantly, these do not affect the conclusions of this analysis. Results Cardiology specialists referred 466 patients with p.V142I, 15 with p.T80A, and 28 with rare TTR mutations to this programme. Of patients who reported sex, 57%, 53%, and 52% with p.V142I, p.T80A, and rare mutations, respectively, were male. Of patients who reported ethnicity, most with p.V142I were African American (94%), whereas the majority of patients with p.T80A and rare TTR mutations were Caucasian (100% and 69%, respectively). 24%, 60%, and 50%, of patients with p.V142I, p.T80A, and rare TTR mutations, respectively, had a family history of hATTR. The majority of patients with p.V142I (74%), p.T80A (53%), and rare TTR (54%) mutations were 65 years of age or older. Although most patients with p.V142I, p.T80A, and rare TTR mutations experienced symptoms/manifestations of heart disease (94% vs 100% vs 85%), many also presented with bilateral carpal tunnel syndrome (23% vs 44% vs 30%) and with sensory (27% vs 44% vs 65%), motor (15% vs 11% vs 25%), and autonomic (19% vs 11% vs 30%) dysfunction. Conclusion Most patients with the p.V142I mutation were African American, whereas many with p.T80A and other rare TTR mutations were Caucasian. Family history of hATTR was more common among patients with p.T80A and other rare TTR mutations than among patients with p.V142I. Regardless of the underlying mutation variant, many hATTR patients can present with various symptoms/manifestations aside from CM, such as PN and bilateral carpal tunnel syndrome. Recognising the neurological symptoms that can occur alongside CM and performing subsequent genetic testing facilitates diagnosis of hATTR. Early diagnosis is critical in hATTR because it is progressive and fatal, and early initiation of disease-modifying therapy is essential to optimising patient outcomes. FUNDunding Acknowledgement Type of funding sources: Private company. Main funding source(s): This study was sponsored by Akcea Therapeutics, an affiliate of Ionis Pharmaceuticals, Inc.

Preoperative use of gabapentin for pain reduction in open surgeries under local anesthesia for idiopathic bilateral carpal tunnel syndrome

This article aims to evaluate the preoperative use of gabapentin in the control of intra- and postoperative pain in patients with idiopathic bilateral carpal tunnel syndrome (CTS). A prospective, randomised, double-blind study involving 45 subjects with severe CTS, 23 receiving treatment (gabapentin 600 mg) and 22 receiving placebo (control), who underwent an open surgical approach in one hand under local anaesthesia. Information related to the patients’ profile, safety of the surgical procedure, history of pain, adverse effects, numbness, and medications used were collected during the 14 days of the procedure and evaluated by Generalised Estimated Equations and Generalised Linear Mixed Models. The treatment and control groups were homogeneous regarding the patients’ profile and surgical procedure data. The patients who used gabapentin 600 mg had a better evaluation during surgery (d = 0.655), anaesthesia (d = 0.854), and on the first night of sleep (d = 1.323), and they reported a higher degree of satisfaction with the surgery after 14 days (d = 1.091). The treatment group reported decreased pain in the operated hand in a 24-hour period (r = 0.34, 95% CI: 0.223–0.457) and in the 14-day follow-up period (r = 0.412, 95% CI: 0.217–0.608). These results were not impacted by the medications used and remained consistent over time. The use of a single dose of gabapentin 600 mg in the preoperative period proved to be safe and effective in reducing postoperative pain, and the improvement was noticed by the patient.

Acute generalised exanthematous pustulosis: an unusual cause of carpal tunnel syndrome

A 65-year-old man presented with generalised erythematous pustular rash following an insect bite. He was initially treated with antibiotics for presumed cellulitis. He subsequently developed bilateral carpal tunnel syndrome. Skin biopsy confirmed a diagnosis of acute generalised exanthematous pustulosis, which resolved with oral prednisolone. He also had steroid injections for his bilateral carpal tunnel syndrome and this recovered uneventfully. Clinical presentation, histological assessment and EuroSCAR criteria were key to the diagnosis and management of this case.

Evaluation of Dynamic Carpal Arch Stability following Carpal Tunnel Release Using Four-Dimensional Computed Tomography

Introduction This study aimed to assess the carpal arch dynamics during active finger and wrist motion following carpal tunnel release using four-dimensional computed tomography (4D-CT). Materials and Methods Four patients who diagnosed with bilateral carpal tunnel syndrome and underwent unilateral carpal tunnel release were prospectively included. 4D-CT of the bilateral wrists during active finger and wrist motion was performed for 10 seconds at five frames per second. The distances between the tip of tuberosity of the scaphoid and the volar ridge of the pisiform (S–P distance) and volar ridge of trapezium and the tip of hook of hamate (T–H distance) were measured at each position and the values of S–P and T–H distances were compared between the postoperative and contralateral wrists. Results During finger motion, the S–P and T–H distances were not different at any position between the postoperative side and contralateral side. Conversely, S–P and T–H distances gradually increased in the postoperative wrists. The differences between the sides of S–P distance were significant, with >0 degrees of wrist extension, and differences of T–H distance were significant with >15 degrees of wrist extension. Conclusion This study demonstrated the carpal arch dynamics using 4D-CT and revealed that the carpal arch was widened with the wrist in extension after carpal tunnel release. This study suggests that the transverse carpal ligament plays an important role in maintaining carpal arch stability.