Articles: amyloidosis.
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Dtsch. Med. Wochenschr. · Sep 2022
Review[Hypertrophic cardiomyopathies and ATTR amyloidosis - a current review for clinical practice].
Cardiomyopathies include dilated and restrictive cardiomyopathies as well as the various forms of hypertrophic cardiomyopathies (HCM). By definition, HCM is considered to occur when left ventricular wall thickness is ≥ 15 mm. This may be masked by genetic sarcomeric diseases, storage diseases, or syndromes. In clinical practice, sarcomere mutations and the cardiac amyloidoses are of particular interest because they are not always easy to distinguish from each other and early diagnosis of the disease is important for prognosis.
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Observational Study
Amyloidosis from the patient perspective: the French daily impact of amyloidosis study.
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. ⋯ 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.
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Bone marrow biopsy is common in patients suspected of having systemic AL amyloidosis. However, little is known about the incidence, morphology and clinical phenotype of non-AL amyloid types in bone marrow. ⋯ ATTR amyloid is common in bone marrow and its morphologic distribution overlaps with AL. Amyloid typing is critical as over 10% of patients with bone marrow amyloid, cardiac amyloidosis, and an M-spike have ATTR amyloidosis.
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Cardiac amyloidosis (CA) is cardiomyopathy with a hypertrophic phenotype characterised by diffuse deposition of anomalous fibrillar proteins in the extracellular matrix. ⋯ evidence of extra left ventricle sites of amyloid deposition is a frequent finding in CA. In the context of hypertrophic phenocopies, an increased thickness of IAS, and/or CT and/or MAL should suggest a diagnosis of transthyretin CA.