Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers
AbstractBackgroundDiagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers.MethodsPatients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers.ResultsSixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55,p
AbstractATTR amyloidosis is caused by systemic deposition of transthyretin (TTR) and comprises ATTRwt (wt for wild-type) amyloidosis, ATTRv (v for variant) amyloidosis, and acquired ATTR amyloidosis after domino liver transplantation. ATTRwt amyloidosis has classically been regarded as cardiomyopathy found in the elderly, whereas carpal tunnel syndrome has also become a major initial manifestation. The phenotypes of ATTRv amyloidosis are diverse and include neuropathy, cardiomyopathy, and oculoleptomeningeal involvement as the predominant features, depending on the mutation and age of onset. In addition to variant TTR, the...
A 70-year-old Caucasian female presented with multiple small, firm, yellowish nodules in the mucosa of the lower and upper lips, buccal mucosa, and dorsal and ventral surfaces of the tongue. Medical history of the patient included carpal tunnel syndrome surgery, systemic arterial hypertension, osteoarthritis, osteoporosis, and hypercholesterolemia. Laboratory tests showed serum levels of thyroid-stimulating hormone (TSH) at 6.56 UI/ µmL, leukocyte count of 3,400/mm³, and erythrocyte sedimentation rate of 36 mm/1 h.
We describe the case of a patient with SSA who exhibited asymmetric quadriceps and finger flexor weakness, a phenotype usually seen in inclusion body myositis.
Authors: Eicher JC, Audia S, Damy T Abstract Transthyretin (TTR) cardiac amyloidosis results from the dissociation of the tetrameric, liver-synthetized transport protein, either because of a mutation (hereditary CA), or spontaneously due to ageing (wild type CA). Monomers self-associate into amyloid fibrils within the myocardium, causing heart failure, arrhythmias and conduction defects. This overlooked disease must be recognized in case of unexplained increased thickness of the myocardium, particularly in subjects of African descent, in patients with heart failure and preserved ejection fraction, and in those with...
We aimed to characterize patients with systemic amyloidosis stratified by a prior diagnosis of carpal tunnel syndrome (CTS) and to describe early echocardiographic parameters concomitant with CTS. Patients with suspected amyloidosis during CTS diagnosis were excluded. Our cohort included 108 patients with systemic amyloidosis of which 36% had a prior CTS at a median of 4 (IQR 2.8, 6.7) years before disease diagnosis. Patients with prior CTS were more likely to present subsequently with cardiac amyloidosis (78% versus 53%, p =0.013), yet overall survival was comparable between groups (53% versus 61%, p=0.825).
659Objectives: Understanding the characteristics of patients with a final diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CA) may help optimally triage patients for Tc-99m pyrophosphate (PYP) scanning. The study was aimed to investigate the prevalence as well as the clinical features along with the electrocardiographic and echocardiographic characteristics of patients with ATTR-CA, who were referred for PYP scan after being hospitalized for decompensated heart failure. Methods: We included all the patients who were referred for PYP scan after heart failure-related hospitalization at our center between 06/2015 and 0...
European Journal of Heart Failure, EarlyView.
Conditions: Transthyretin Amyloidosis; Transthyretin Cardiac Amyloidosis; Wild-Type Transthyretin-Related (ATTR)Amyloidosis Intervention: Diagnostic Test: Tenosynovial biopsy Sponsor: Steen Hvitfeldt Poulsen Not yet recruiting
Conditions: Amyloidosis; Carpal Tunnel Syndrome Intervention: Procedure: Carpal tunnel syndrome surgery Sponsor: Corporacion Parc Tauli Recruiting