Hebrard. Bérénice B; Babonneau. Marie-Lise ML; Charron. Philippe P; Consolino. Emilie E; D...
Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR or acquired wild-type ATTR form. Genetic testing is critical for determining a hereditary predisposition and subsequently initiating appropriate family screening. In France, strict regulations govern genetic testing that aim to protect patients and their families affected by hereditary diseases such as ATTR. However, challenges persist in establishing an effective genetic testing pathway. A multidisciplinary group of French experts convened to discuss the challenges associated with an ATTR genetic diagnosis and to propose improvement strategies. Key challenges include the lack of pathway standardization, communication gaps between healthcare professionals (HCPs) and patients, and difficulties in complying with regulatory requirements. Concerns about patient data safety and outsourced testing quality further complicate matters. Proposed strategies included the development of stakeholder mapping tools for HCPs and patients, educational programs to improve literacy on genetic testing regulations, increase disease awareness among medical geneticists and genetic counselors, and strengthening HCP-patient communication through educational materials. These initiatives aim to streamline the genetic testing pathway, enhance compliance with regulations, and ultimately provide optimal support for patients and families with ATTR.
Girerd. Nicolas N; Mewton. Nathan N; Tartière. Jean-Michel JM; Guijarro. Damien D; Jourdain. Pa...
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Houdayer. F F; Putois. O O; Babonneau. M L ML; Chaumet. H H; Joly. L L; Juif. C C; Michon. C C CC; S...
The study looked at how patients and families feel about getting extra genetic information (secondary findings) from DNA tests. Some people liked it for medical reasons, while many worried about the emotional impact. They also discussed how to explain these findings, give people choice, allow time to think, and improve doctor‑patient communication.
Damy. Thibaud T; Adams. David D; Bridoux. Frank F; Grateau. Gilles G; Planté-Bordeneuve. Violai...
Amyloidosis is a complex group of rare conditions. For patients, amyloidosis is severely debilitating: physically and psychologically. Currently, data are lacking to evaluate the medical, economic, and social burden of systemic amyloidosis.
To analyse the patient burden according to the main types of systemic amyloidosis.
The French Daily Impact of Amyloidosis study was an observational, cross-sectional and non-interventional study. Adults diagnosed with light chain (AL), transthyretin (ATTR), amyloid A (AA) and other rare forms of amyloidosis were eligible. Data regarding amyloidosis prevalence, diagnosis, management, and impact on everyday life were collected using a study-specific survey built by the Association Française Contre l'Amylose (AFCA) and the four French National Referral Centres for Amyloidosis.
A total of 603 patients, predominantly male (65%) with an average age of 66.8 years, including 170 AL, 224 ATTRv, 109 ATTRwt and 25 AA amyloidosis patients, completed the study-specific survey. The median delay from presentation to confirmed diagnosis was 27.4 months but varied according to amyloidosis type. Patients before diagnosis had breathlessness (49%), tingling sensation (33%), pain (28%), difficulty in walking (28%) and weight loss (22%). Amyloidosis was most frequently suspected (49%) and confirmed (57%) in local hospitals but managed in French amyloidosis referral centres (58%). Patients often reported problems with mobility, usual activities, pain/discomfort and anxiety/depression, but not with self-care.
Systemic amyloidosis severely impacts daily life. The delay to confirmed amyloidosis diagnosis needs to be reduced. Early, effective treatment is required to optimise patient benefits.
Kharoubi. Mounira M; Bézard. Mélanie M; Galat. Arnault A; Le Bras. Fabien F; Poullot. Elsa...
This study looked at how often and how quickly people with different kinds of cardiac amyloidosis notice symptoms outside the heart or in the heart, and how those timing differences affect survival. It found that the type of amyloidosis changes when symptoms first appear and how long it takes doctors to diagnose the disease, which in turn influences outcomes.
Oghina. Silvia S; Josse. Constant C; Bézard. Mélanie M; Kharoubi. Mounira M; Delbarre. Mar...
We assesse the evolution and prognostic value of N-terminal pro-brain natriuretic peptide (NT-proBNP) and high-sensitivity troponin T (cTnT-HS) in transthyretin amyloid cardiomyopathy (ATTR-CA) before and after tafamidis treatment.
454 ATTR-CA patients without tafamidis (Cohort A) and 248 ATTR-CA with tafamidis (Cohort B) were enrolled. Event-free survival (EFS) events were death, heart transplant, or acute heart failure. In Cohort A, 27% of patients maintained NT-proBNP < 3000 ng/L and 14% cTnT-HS < 50 ng/L at 12 months relative to baseline levels. In Cohort B, the proportions were 49% and 29%, respectively. In Cohort A, among the 333 patients without an increased NT-proBNP > 50% relative to baseline EFS was extended compared to the 121 patients with an increased NT-proBNP > 50% (HR: 0.75 [0.57; 0.98]; <i>p</i> = 0.032). In Cohort A, baseline NT-proBNP > 3000 ng/L and cTnT-HS > 50 ng/L and a relative increase of NT-proBNP > 50% during follow-up were independent prognostic factors of EFS. The slopes of logs NT-proBNP and cTnT-HS increased with time before and stabilized after tafamidis.
ATTR-CA patients with increasing NT-proBNP had an increased risk of EFS. Tafamidis stabilize NT-proBNP and cTnT-HS increasing, even if initial NT-proBNP levels were >3000 ng/L. Thus suggesting that all patients, irrespective of baseline NT-proBNP levels, may benefit from tafamidis.
Bartier. Sophie S; Bodez. Diane D; Kharoubi. Mounira M; Canouï-Poitrine. Florence F; Chatelin....
<b>Background:</b> Systemic amyloidosis with cardiac involvement (CA) is a severe disease caused by the aggregation of misfolded proteins infiltrating organs and tissues and leading to their dysfunction. No study has yet focused on potential pharyngo-laryngeal impairments associated to CA. Our objective was to define its prevalence and describe pharyngo-laryngeal involvement patterns in a population with CA (light chain: AL, wild-type transthyretin: ATTRwt, variant transthyretin: ATTRv). <b>Methods:</b> Consecutive patients with a confirmed diagnosis of CA were prospectively investigated for pharyngo-laryngeal involvement. This included questionnaires on symptoms of dysphonia/dysphagia and quality of life Voice Handicap Index (VHI). In cases of dysphonia, a nasofibroscopy was performed to evaluate potential laryngeal organic lesions of amyloid infiltration and induced laryngeal dysfunction (mobility, glottic air leak). In cases of dysphagia, Video Endoscopy Swallowing Study (VESS) was performed to evaluate the presence of hypopharyngeal pooling at rest and during swallowing and the time of swallowing 80 ml of water. <b>Results:</b> Ninety-five CA patients were enrolled, of whom 19 were ATTRv, 36 AL and 40 ATTRwt. Their mean age was 73.8 ± 9.2 years and the sex ratio was 2.6 in favor of men. Dysphagia was reported in 17% of the patients and 40% had more specific oropharyngeal symptoms (food sticking, regurgitation, change in dietary habits), preceding the CA diagnosis by 7 (0-24) months. Recent weight loss was reported in 60% of the patients (mean loss of 10 ± 6.3 kg). VESS showed functional swallowing impairment in only 4 patients without any macroscopic organic lesion. Dysphonia was reported in 36% of the patients (44% and 47% in AL and ATTRv sub-groups, respectively) of whom 40% had functional or organic laryngeal abnormality (14% of vocal fold mobility dysfunction and 26% of abnormal mucosa) without any macroscopic-specific lesions of amyloid infiltration in these patients. <b>Conclusions:</b> This prospective study suggests, for the first time, that amyloid associated with CA could infiltrate the various anatomical structures of the pharyngo-larynx, responsible for functional impairment and potential nutritional depletion and poor quality of life.
Bonnefous. Louis L; Kharoubi. Mounira M; Bézard. Mélanie M; Oghina. Silvia S; Le Bras. Fab...
The study used advanced computer clustering to group patients with suspected heart amyloidosis into seven types based on their clinical data. It showed that different amyloidosis forms (AL, ATTRv, ATTRwt) fall into distinct clusters, but the work is purely diagnostic and does not suggest any new treatments or lifestyle actions.
Amedro. Pascal P; Werner. Oscar O; Abassi. Hamouda H; Boisson. Aymeric A; Souilla. Luc L; Guillaumon...
This study looks at how kids with inherited heart rhythm problems or heart muscle diseases feel about their health and how active they are, compared to healthy kids. It doesn’t involve any peptide or give advice that can be used by biohackers or adult self‑experimenters.
Fauvel. Charles C; Bonnet. Guillaume G; Mullens. Wilfried W; Giraldo. Clara Ines Saldarriaga CIS; Me...
A worldwide survey of cardiologists found that most still follow the old step‑by‑step order of heart‑failure drugs, even though the latest European guidelines recommend starting all four main drug classes at once. Most doctors think it’s doable to begin all four during a hospital stay, but they still prioritize the traditional sequencing.
Bézard. Mélanie M; Kharoubi. Mounira M; Galat. Arnault A; Le Bras. Fabien F; Poullot. Elsa...
To evaluate the real-life use of a modified Gillmore algorithm with a "one-stop-shop" approach, bone scintigraphy (BS), a monoclonal gammopathy test (GT), a salivary gland biopsy (SGB), and genetic testing performed at the same time for the diagnosis of cardiac amyloidosis at the French National Reference Centre for Cardiac Amyloidosis (Henri Mondor Hospital, Créteil, France).
This retrospective cohort study included a total of 1222 patients with suspected amyloidosis who underwent BS and GT between June 2008 and May 2019.
Of 1222 patients, 349 had no cardiac uptake on BS and negative GT (BS-/GT-), 276 were BS-/GT positive (GT+), 420 patients were BS+/GT-, and 177 were BS+/GT+. Our one-stop-shop check-up enabled us to diagnose 892 (72.9%) patients; 330 (27.0%) patients required additional examinations, such as mass spectrometry and/or a cardiac biopsy. This subset notably included 112 patients with amyloid light chain amyloidosis. More than 64% of the patients with transthyretin amyloidosis or another type of amyloidosis were diagnosed during the one-stop shop visit. Sensitivity and specificity of BS for transthyretin amyloidosis diagnosis was 99% and 96%, respectively. For amyloid light chain diagnosis, sensitivity and specificity were 100% and 76%, respectively, for GT and 54% and 100%, respectively, for SGB. Of 910 transthyretin genetic tests, 205 (17%) detected mutations.
The results of our real-life cohort study confirmed the ability of a one-stop-shop approach with a modified Gillmore algorithm to diagnose cardiac amyloidosis and the interest of simultaneous testing for earlier diagnosis. The SGB has diagnostic value because it is easy, quick, and less invasive than a cardiac biopsy.
Poullot. Elsa E; Oghina. Silvia S; Kalsoum. Sarah S; Damy. Thibaud T
The article explains that certain proteins can build up in the heart, causing a condition called cardiac amyloidosis. It describes the main types (transthyretin and light‑chain), how doctors spot the disease, and the newer medicines that can improve outcomes, especially when the exact protein type is identified.
Oghina. S S; Delbarre. M A MA; Poullot. E E; Belhadj. K K; Fanen. P P; Damy. T T
The abstract explains the types, diagnosis, and new treatments for cardiac amyloidosis, a serious heart disease caused by protein deposits. It mainly discusses medical testing and genetic screening, not any self‑administered peptide or lifestyle tweak.
Tomcsányi. János J; Somlói. Miklós M; Szabó. Márta M; Zsoldos. Andr&#x...
Transient elevation of the ST segment was observed in a patient during noncardiogenic shock. The coronarography was negative. The patient received dopamine infusion. The 48 yr-old man had Crohn disease with septicaemia and ARDS. The exact pathomechanism is not known, but the negative coronarography ruled out the epicardial coronary disease. The suggested mechanisms are dopamine induced coronary vasoconstriction or complement activation.