Hereditary amyloidosis: description of a new american kindred with late onset cardiomyopathy

Benson, Merrill D.; Wallace, Margaret R.; Tejada, Eduardo; Baumann, Hal; Page, Burnestine

doi:10.1002/art.1780300210

Cited by 52 publications

(16 citation statements)

References 22 publications

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“…Several previous reports (48-51) indicated that FAP patients with this type frequently had serious cardiac symptoms including intractable heart failure, especially in patients whose initial symptom was a carpal tunnel syndrome (52)(53)(54). This tendency was confirmed by our recent study (46), based on the significant number of patients: at the time of admission 75% of the patients in this group had clinically apparent cardiac amyloidosis in addition to peripheral somatic and/or autonomic neuropathy, while the cardiac disorder was present in only 18% of the patients with Val30Met ATTR.…”

Section: Hereditary Amyloidosismentioning

confidence: 99%

Cardiac Amyloidosis: Heterogenous Pathogenic Backgrounds

Ikeda

2004

Intern. Med.

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Cardiac amyloidosis is a fatal disorder which develops on the basis of the different pathologic conditions in systemic amyloidosis: the most common underlying disease is immunoglobulin light chain-derived primary amyloidosis and the next is transthyretin-related hereditary amyloidosis; the latter disorder, typically represented by familial amyloid polyneuropathy, was long regarded as an endemic disease. However, this disorder has now been shown to involve a highly variable clinical picture due to a large number of transthyretin gene mutations, and many patients with diverse ancestors suffer from severe cardiac amyloidosis. Additionally, senile systemic amyloidosis is now noted as a cause of cardiac dysfunction in elderly individuals. Echocardiogram and myocardial technetium-99m-pyrophosphate scintigraphy can provide characteristic findings. Immunohistochemistry on tissue amyloid, biochemical analysis of serum and urine proteins, and DNA sequencing are usually employed to determine the disease-related amyloid fibril protein.Although systemic amyloidosis has become treatable, the prognosis of each patient who received up-to-date and effective, but nevertheless stressful, therapy depends on the severity of cardiac involvement by amyloid deposition.

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Section: Hereditary Amyloidosismentioning

confidence: 99%

Cardiac Amyloidosis: Heterogenous Pathogenic Backgrounds

Ikeda

2004

Intern. Med.

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“…The Thr60Ala mutation is prominent in the United States, but probably originated in Northern Ireland and has now been found in many countries with families of Irish descent. 4 Leu58His is also frequently found in the United States in families originating in Germany, where it is also found. 22,50 Probably the most prevalent transthyretin mutation in the United States is Val122Ile.…”

mentioning

confidence: 94%

The molecular biology and clinical features of amyloid neuropathy

Benson¹,

Kincaid²

2007

Muscle and Nerve

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401

312

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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 findings similar to neuropathies with differing etiologies (e.g., diabetes mellitus). Hereditary amyloidosis is an adult-onset autosomal-dominant disease with varying degrees of penetrance. It is caused by specific gene mutations, but demonstration that a patient has one such mutation does not confirm the diagnosis of amyloidosis. Diagnosis requires tissue biopsy with demonstration of amyloid deposits either by special histochemical stains or electron microscopy. Transthyretin amyloidosis is treated by liver transplantation, which eliminates the mutated transthyretin from the blood, but for some patients continued amyloid deposition can occur from wild-type (normal) transthyretin. Presently, a study is ongoing to determine whether amyloid deposition can be inhibited by small organic molecules that are hypothesized to affect the fibril-forming ability of transthyretin. Proposed gene therapy with antisense oligonucleotides (ASOs) to suppress hepatic transthyretin synthesis is effective in a transgenic mouse model but has not yet been tested in humans.

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“…[1314] There appears to be a bimodal age of onset in this mutation, with early onset (third and fourth decade) presenting with peripheral neuropathy and minimal cardiac infiltration except for conduction system disease and late onset disease (sixth decade) presenting predominantly as an infiltrative amyloid cardiomyopathy. In contrast, the Thr60Ala mutation, first described in the Appalachian region of the United States, and other less common mutations[151617] are associated with a severe infiltrative cardiomyopathy, often with minimal neuropathy. Individuals with THr60Ala typically present at 50–60 years of age.…”

Section: Discussionmentioning

confidence: 99%

An elderly male with tingly legs and a heavy heart: Persisting with the diagnosis!

Kharadi

Harsha

Gopalakrishnan

et al. 2016

Ann Indian Acad Neurol

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Pursuing a diagnosis despite a negative nerve biopsy report requires a strong clinical conviction. Paying attention to clinical details and a diligent review of medical records is needed to solve cases in which the diagnosis is not obvious despite numerous tests. We present once such case of an elderly man with chronic diarrhea, weight loss, and peripheral neuropathy and elaborate on a step by step basis on how the clinical thought process evolved after sifting through the reports of scan and tests done during his work up.

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Hereditary amyloidosis: description of a new american kindred with late onset cardiomyopathy

Cited by 52 publications

References 22 publications

Cardiac Amyloidosis: Heterogenous Pathogenic Backgrounds

Cardiac Amyloidosis: Heterogenous Pathogenic Backgrounds

The molecular biology and clinical features of amyloid neuropathy

An elderly male with tingly legs and a heavy heart: Persisting with the diagnosis!

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