Misdiagnoses of transthyretin amyloidosis: a clinical and electrodiagnostic study
نویسندگان
چکیده
Background Misdiagnosis of ATTR and late diagnosis may be detrimental hampering adequate management and delaying therapy onset. Objective of the present study was to investigate in a large single-centre cohort of genetically– confirmed ATTR patients the prevalence, type and causes of misdiagnoses. Given the high frequency of cases erroneously diagnosed as having chronic inflammatory demyelinating polyneuropathy (CIDP), we investigated the electrodiagnostic (EDx) features which can help distinguish ATTR from CIDP.
منابع مشابه
Successful Diflunisal Desensitization in a Transthyretin Amyloidosis Patient with NSAID Allergy: A Case Report
Introduction: Amyloid diseases have been known to be hereditary, including transthyretin (TTR) amyloidosis where subunit protein mutations may occur in genes for TTR leading to the deposition of fibrils (low molecular weight subunits (5 to 25 kD) of proteins) in extracellular tissues. By reducing the formation of TTR amyloid, diflunisal, a nonsteroidal anti-inflammatory drug (NSAID), has shown ...
متن کاملThe molecular biology and clinical features of amyloid neuropathy.
Neuropathy is often a major manifestation of systemic amyloidosis. It is most frequently seen in patients with hereditary transthyretin (TTR) amyloidosis, but is also present in 20% of patients with systemic immunoglobulin light chain (primary) amyloidosis. Familial amyloid polyneuropathy (FAP) is the most common form of inherited amyloidotic polyneuropathy, with clinical and electrophysiologic...
متن کاملTHAOS: Gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease
BACKGROUND Transthyretin amyloidosis is a systemic disorder caused by amyloid deposits formed by misfolded transthyretin monomers. Two main forms exist: hereditary and wild-type transthyretin amyloidosis, the former associated with transthyretin gene mutations. There are several disease manifestations; however, gastrointestinal complications are common in the hereditary form. The aim of this st...
متن کاملA Heart too Stiff to Beat: A Case of Familial Transthyretin Amyloidosis Cardiomyopathy
Heart failure is a common clinical syndrome caused by a variety of cardiac diseases. We report a rare case of familial transthyretin amyloidosis cardiomyopathy to heighten the awareness of this rare but lethal cause of heart failure, as therapeutic interventions such as liver or heart transplant could be curative in selected patients.
متن کاملVitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report
BACKGROUND Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutations have been reported with various geographic distributions and associated with a wide range of phenotypes involving the peripheral nerve, the heart, the ...
متن کامل