Tongue necrosis and systemic vascular amyloidosis

Lin, James R.; Wang, He; Collins, A. Bernard; Stone, James R.

doi:10.1016/j.humpath.2010.08.011

Cited by 6 publications

(3 citation statements)

References 14 publications

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“…Postmortem studies demonstrated that the prevalence of SSA was 12–25% in patients older than 80 years [19,20]. Furthermore, recent studies determined that WT TTR amyloid may also cause several other disorders and conditions [12], such as radiculomyelopathy [36], tongue necrosis [37], hematuria [38], nodular amyloid deposits in the lung [39], and frequent amyloid deposition in ligaments and tendons such as carpal tunnel and spinal ligaments [40,41], to a degree not previously known. In addition to full-length WT TTR, truncated C-terminal WT TTR fragments starting at positions 46–52 are usually detected in amyloid deposits obtained from SSA patients [32,35].…”

Section: Introductionmentioning

confidence: 99%

Recent advances in transthyretin amyloidosis therapy

Ueda

Ando

2014

Transl Neurodegener

125

113

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Mutant (MT) forms of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis—familial amyloidotic polyneuropathy (FAP). Until 20 years ago, FAP was thought to be an endemic disease, but FAP is known to occur worldwide. To date, more than 130 mutations in the TTR gene have been reported. Genotype-phenotype correlations are seen in FAP, and some variation in clinical presentation is often observed in individual kindreds with the same mutation and even among family members. Of the pathogenic TTR mutations, Val30Met was the first to be identified and is the most frequent known mutation found throughout the world. Studies of patients with FAP amyloidogenic TTR (ATTR) Val30Met documented sensorimotor polyneuropathy, autonomic dysfunction, heart and kidney failure, gastrointestinal tract (GI) disorders, and other symptoms leading to death, usually within 10 years of the onset of disease. Diagnosis is sometimes delayed, especially in patients without a clear family history and typical clinical manifestations, since diagnosis requires various studies and techniques such as histopathology, genetic testing, and mass spectrometry. For treatment of FAP, liver transplantation (LT) reportedly halts the progression of clinical manifestations. Exchange of an FAP patient’s diseased liver with a healthy liver causes MT TTR in the body to be replaced by wild-type (WT) TTR. Although clinical evaluations indicated that progression of other clinical symptoms such as peripheral neuropathy, GI symptoms, and renal involvement usually halted after LT in FAP ATTR Val30Met patients, recent studies suggested that LT failed to prevent progression of cardiac amyloidosis in FAP ATTR Val30Met patients after LT, with this failure reportedly being due to continued formation of amyloid that derived mainly from WT TTR secreted from the transplanted non-mutant liver graft. In recent years, many therapeutic strategies have been proposed, and several ongoing therapeutic trials involve, for example, stabilizers of TTR tetramers (tafamidis and diflunisal) and gene therapies to suppress TTR expression (antisense methods and use of small interfering RNAs). These novel therapies may prove to prevent progression of FAP.

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Section: Introductionmentioning

confidence: 99%

Recent advances in transthyretin amyloidosis therapy

Ueda

Ando

2014

Transl Neurodegener

125

113

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“…These were associated with pain, burning sensation and dysphagia. (Elad et al., ; Lin, Wang, Collins, & Stone, ; Viggor et al., .…”

Section: Introductionmentioning

confidence: 99%

“…These were associated with pain, burning sensation and dysphagia. (Elad et al, 2010;Lin, Wang, Collins, & Stone, 2011;Viggor et al, 2009. In a small, retrospective study, AL amyloidosis was detected in 18 of 34 MM or monoclonal gammopathy of unknown significance (MGUS) patients based on biopsies of labial salivary glands (LSG), bone marrow and skin due to clinical suspicion of the condition. The sensitivity for detecting amyloid deposition was highest in biopsies of LSG at 89%, followed by 77% for bone marrow, and 72% for skin (Suzuki et al, 2016).…”

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confidence: 99%

Role of oral examination in newly diagnosed multiple myeloma patients: A safe and simple way to detect light chain amyloidosis

et al. 2018

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Tongue necrosis caused by systemic vascular diseases: A systematic review of the literature

Kitamura

Sento

Yoshizawa

et al. 2020

Oral Science International

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We present a review of the case reports of tongue/lingual necrosis caused by systemic vascular diseases. An electronic search of PubMed/MEDLINE was carried out for studies published from January 2009 to December 2018 using the following three keywords: tongue, lingual, and necrosis. The literature analysis identified 32 reports (38 cases) of tongue/lingual necrosis among the 325 studies originally identified by the PubMed/MEDLINE search. In all, 19 of the 38 cases were on vasculitis, followed by 10 on cardiogenic/septic shock, 7 on tongue infarction (due to carotid artery stenosis or systemic thrombosis), and 2 on other causes (systemic lupus erythematosus and systemic vascular amyloidosis). Among the 19 cases on vasculitis, 15 cases were reported about giant cell arteritis; 3 on polyarteritis nodosa; and 1 on necrotizing vasculitis of the tongue secondary to giant cell arteritis. In conclusion, the diagnosis of tongue/lingual necrosis is diverse and challenging because of the polymorphous clinical pattern at onset and similarity with different diseases. Our findings will be useful to clinicians in the differential diagnosis of unusual tongue/lingual necrosis cases.

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Tongue necrosis and systemic vascular amyloidosis

Cited by 6 publications

References 14 publications

Recent advances in transthyretin amyloidosis therapy

Recent advances in transthyretin amyloidosis therapy

Role of oral examination in newly diagnosed multiple myeloma patients: A safe and simple way to detect light chain amyloidosis

Tongue necrosis caused by systemic vascular diseases: A systematic review of the literature

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