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Amyloidosis is a disease caused by the continuous accumulation of fibrillary proteins in the extracellular matrix causing the architecture of different organs to be disrupted. The prevalence of the disease increases with age. The two most common forms are light chain amyloidosis (AL) and transthyretin (TTR). TTR amyloidosis may be hereditary (m-TTR, or mutated) or age-related (WT-TTR, or wild). The latter is also called senile amyloidosis. In all these forms, cardiac impairment is common and leads the patient to consult/or be referred to a cardiological center unfortunately often too late when the prognosis is directly related to the severity of the heart attack. The description/discovery of clinical signs prior to heart disease is important to improve the detection and diagnosis of early forms of cardiac amyloidosis (CA). For example, an infiltration of the carpal tunnel synovial by amyloid deposits is observed in some patients, 5 years before the onset of signs of heart failure and is the only warning sign of the disease known to date. We also showed in a previous study that patients had more severe and earlier impairment of hearing function than expected by age and gender.
Objective The main objective is to define the prevalence and severity of smell and taste disorders in a population of patients with cardiac amyloidosis (3 types of mutated or wild AL amyloidosis and TTR).
The main endpoint is to determine the number of patients with impaired smell and taste's functions in a population of patients diagnosed with cardiac amyloidosis (3 types of mutated (hereditary) or senile wild amyloidosis (3 types of AL amyloidosis and TTR).
Method Successive monocentric cross-sectional study on the screening of smell and taste disorders carried out as part of a cardiology hospitalization programmed for the cardiology follow-up of his pathology in a population of patients diagnosed with AC.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Test de bâton de Sniff | Other | Cohorte |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Sniffin's stick test | Other | The sniffin's stick test is a three-part test consisting of smelling odor pens: 1) determining a detection threshold, 2) discriminating ability, 3) ability to identify odors. It lasts about 30 minutes, is achievable in the room. |
| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of smell and taste disorders in a population of patients with cardiac amyloidosis | at inclusion day | |
| Severity of smell and taste disorders in a population of patients with cardiac amyloidosis, evaluated with Sniffin's stick tests score (score/48) | at inclusion day |
| Measure | Description | Time Frame |
|---|---|---|
| Date of onset of smell and taste disorder (month/years) compared with date of onset of cardiological symptoms and cardiac amyloidosis, based on declarative assessment | at inclusion day | |
| TDI scores of Sniffin's stick test compared to Sniffin's stick test TDI scores of age and gender-matched subjects |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Assistance Publique Hôpitaux de Paris - CHU HENRI MONDOR | Créteil | 94010 | France |
DATAS ARE OWN BY ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS, PLEASE CONTACT SPONSOR FOR FURTHER INFORMATION
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| ID | Term |
|---|---|
| D000686 | Amyloidosis |
| D028227 | Amyloid Neuropathies, Familial |
| D000086582 | Anosmia |
| D000857 | Olfaction Disorders |
| D013651 | Taste Disorders |
| ID | Term |
|---|---|
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
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Model description: Successive monocentric cross-sectional study on the screening of smell and taste disorders carried out as part of a cardiology hospitalization programmed for the cardiology follow-up of his pathology in a population of patients diagnosed with AC. All subjects will have an ENT check-up including: an ENT examination with a nasal endoscopy, an evaluation of the olfactory function by Sniffin's stick tests (test which consists of smelling smelling pens) an evaluation of taste (test which consists of discriminating between acid, bitter, sweet and salty using blotting papers placed on the tongue). Nutritional status will be assessed by a mini-questionnaire, measurement of weight, brachial circumference and tricipital skin fold, calculation of body mass index (BMI), orosomucoid dosage.
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| at inclusion day |
| correlation between type of amyloidosis (AL, TTR mutated and wild type) and Sniffin's stick test TDI's score (/48) | at inclusion day |
| Correlation between severity of cardiac amyloidosis and and Sniffin's stick test TDI's score (/48). Severity of cardiac amyloidosis is evaluated by clinical characteristics (NYHA, Heart rate (bpm), Systolic Blood Pressure (mmHg), Diastolic Blood Pressure | at inclusion day |
| Correlation between nutritional depletion and Sniffin's stick test TDI scores (/48). Nutritional depletion is evaluated by BMI (Body mass index kg/m2), brachial circumference (cm), tricipital fold (mm), orosomucoid g/L | at inclusion day |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D017772 | Amyloid Neuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D028226 | Amyloidosis, Familial |
| D008661 | Metabolism, Inborn Errors |
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |