ATTR Amyloidosis: Archives News of the month
Increasing clinicians’ suspicion of ATTR amyloidosis using a retrospective algorithm
ATTR Amyloidosis 4 min.
Amyloidosis is a disease characterized by extracellular tissue deposition of insoluble fibrils composed of abnormally folded proteins. Two types of amyloidosis are responsible for 95% of cardiac amyloidosis cases, immunoglobulin light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR). ATTR...
Sudoscan in ATTRv Amyloidosis: A Potential Marker of Disease Progression?
ATTR Amyloidosis 5 min.
Hereditary transthyretin amyloidosis (ATTRv, v for ‘variant’) is a rare, adult-onset, autosomal-dominant disease with variable penetrance, caused by mutations in the TTR gene encoding transthyretin. Pathogenic TTR variants decrease the stability of the TTR tetramer...
Diagnostic performance of liver stiffness as marker of liver involvement in systemic immunoglobulin light chain (AL) amyloidosis
ATTR Amyloidosis 6 min.
In systemic immunoglobulin light chain (AL) amyloidosis, heart involvement has most impact on survival [1]. However, liver involvement also affects prognosis [2, 3] and increases the risk of treatment-related toxicity [4]. Identification of liver involvement at the start of treatment provides parameters...
Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study
ATTR Amyloidosis 3 min.
Chronic inflammatory demyelinating-like polyradiculoneuropathy (CIDP) is an autoimmune disease of the peripheral nervous system affecting myelin. CIDP is rare, with a reported prevalence ranging from 0.15 to 8.9 cases/100 000 individuals [1, 2–3] and may present at any age. The typical form is...
Rare case of wtTTR amyloidosis and MGUS in a patient with lung adenocarcinoma
ATTR Amyloidosis 2 min.
Amyloid fibril deposition has been described in patients with malignancy, more frequently in haematologic neoplasms than solid tumours. Amyloid transthyretin (ATTR) amyloidosis is commonly known for its cardiac or neurological involvement. Pulmonary involvement is relatively uncommon and poorly characterised....
