Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report

Nakov, Radislav; Sarafov, Stayko; Nakov, Ventsislav; Господинова, Мариана; Todorov, Tihomir; Kirov, Andrey; Тодорова, Албена; Tournev, Ivailo

doi:10.15403/jgld-422

Cited by 7 publications

(5 citation statements)

References 16 publications

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“…Intestinal amyloidosis can lead to weight loss, prolonged diarrhoea, abdominal pain, intestinal bleeding or pseudo-obstruction. Accumulation of amyloid in various organ systems causes gastrointestinal dysfunction, cardiomyopathy, nephropathy and progressive peripheral polyneuropathy 18 19. Without treatment, the typical life expectancy after symptom onset ranges from 3 to 15 years, with worse prognosis associated with the development of cardiomyopathy.…”

Section: Discussionmentioning

confidence: 99%

Severe chronic diarrhoea caused by hereditary transthyretin amyloidosis

Toppeta,

Dell'Era,

Molteni

et al. 2023

BMJ Case Rep

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Amyloidosis includes a heterogeneous group of diseases caused by the extracellular deposition of insoluble fibrillar proteins, leading to multiple organ dysfunction and a poor life expectancy. In the early stages of amyloidosis, gastrointestinal (GI) symptoms are uncommon. We describe a rare case of hereditary transthyretin amyloidosis (ATTRv) with involvement of the heart, nervous system and GI tract. A man in his 60s was hospitalised due to chronic diarrhoea, orthostatic hypotension, malabsorption and weight loss. An organic origin for the diarrhoea was suspected, but the most common causes were ruled out. The review of GI biopsies and an abdominal fat aspirate confirmed the diagnosis of amyloidosis. The diagnosis of ATTRv amyloidosis with GI presentation is challenging, especially in the early stages, and misdiagnosis is common. The recent approval of therapies emphasises the importance of early diagnosis to prevent irreversible organ damage.

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Section: Discussionmentioning

confidence: 99%

Severe chronic diarrhoea caused by hereditary transthyretin amyloidosis

Toppeta,

Dell'Era,

Molteni

et al. 2023

BMJ Case Rep

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“…Gastrointestinal involvement was assessed in all by taking patients' history, biomarkers for intestinal inflammation (fecal calprotectin), hydrogen breath test, abdominal ultrasound, and endoscopies with staging biopsies for Congo red staining (12,21).…”

Section: Selective Screening Programmentioning

confidence: 99%

Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria

Chamova¹,

Господинова

Asenov³

et al. 2022

Front. Neurol.

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Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, autosomal-dominant (AD) multisystem disorder resulting from the extracellular deposition of amyloid fibrils formed by a destabilized mutant form of transthyretin (TTR), a transport protein predominantly produced by the liver.AimThe aims of the current study are to demonstrate the Bulgarian experience with the screening programs among the high-risk patient population over the last 7 years, to present the results from the therapy with TTR stabilizer in our cohort, as well as to stress on the importance of a follow-up of asymptomatic carriers with TTR pathogenic variants by a multidisciplinary team of specialists.Materials and MethodsIn 2014, a screening program among the high-risk patient population for ATTRv was initiated in Bulgaria. On one hand, it was conducted to identify new patients and families among people with “red flag” clinical features, while on the other hand, the program aimed to identify TTR mutation carriers among the families with already genetically proven diagnoses. Sanger sequencing methodology was used to make fast target testing for mutations in the TTR gene in the suspected individuals. All of the identified carriers underwent subsequent evaluation for neurological, cardiac, gastroenterological, and neuro-ophthalmological involvement. Those considered affected were provided with multidisciplinary treatment and a follow-up.ResultsAs a result of a 7-year selective screening program among the high-risk patient population and relatives of genetically verified affected individuals, 340 carriers of TTR mutations were identified in Bulgaria with the following gene defects: 78.53% with Glu89Gln, 10.29% with Val30Met, 8.24% with Ser77Phe, 2.06% with Gly47Glu, and 0.59% with Ser52Pro. All of these affected displayed a mixed phenotype with variable ages at onset and rate of progression, according to their mutation. From the 150 patients treated with TTR stabilizer, 84 remained stable, while in other 66 patients the treatment was terminated either because of polyneuropathy progression or due to death. A program for a regular follow-up of asymptomatic carriers in the last 3 years enabled us to detect the transition of 39/65 to symptomatic patients and to initiate treatment in a timely manner.ConclusionBulgarian ATTRv patients display a mixed phenotype with some clinical peculiarities for each mutation that should be considered when treating the affected and the follow-up of the asymptomatic carriers of a specific gene defect.

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“…In digestive tract amyloidosis, fecal calprotectin may be indicative of mild intestinal inflammation. 20,21 Radiological examinations are non-specific; however, abdominal computed tomography (CT) scans may show edematous wall thickening of the small bowel and colon. 21 The results of ileocolonoscopy are non-specific, either with an accentuated vascular pattern along the colon, diffusely distributed petechial mucosal suggillations, or shallow erosions in the colon and terminal ileum.…”

Section: Diarrheamentioning

confidence: 99%

Intestinal amyloidosis: Clinical manifestations and diagnostic challenge

Talar-Wojnarowska¹,

Jamroziak²

2021

Adv Clin Exp Med

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Amyloidosis is a heterogeneous group of diseases in which the extracellular deposition of abnormal fibrillar proteins disrupts tissue structure and function. Intestinal involvement is a very rare manifestation of amyloidosis compared to the most affected organs, the heart and kidneys. Damage of the gastrointestinal tract may be the only manifestation of amyloidosis, or -more often -is a component of the involvement of several organs in systemic amyloidosis. Any part of the digestive tract can be involved; however, the small bowel is the most affected part, followed by the colon. Intestinal amyloidosis is characterized by a heterogeneous clinical picture, with weight loss, chronic diarrhea, abdominal pain, intestinal bleeding, or pseudo-obstruction. Endoscopic findings are characterized by a fine granular appearance, erosions, ulcerations, mucosal friability, multiple protrusions, or tumor-like lesions. Pathologic examination allows for a definitive diagnosis using Congo red staining and a positive sample with apple-green birefringence. The disease can easily be misdiagnosed with several other diseases of the digestive tract and lead to diagnostic challenges in clinical practice. Further, the amyloid colonic deposition may mimic inflammatory bowel disease, malignancy, ischemic colitis, and collagenous colitis. Therefore, gastroenterologists need to include amyloidosis in their diagnostic work-up.

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Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report

Cited by 7 publications

References 16 publications

Severe chronic diarrhoea caused by hereditary transthyretin amyloidosis

Severe chronic diarrhoea caused by hereditary transthyretin amyloidosis

Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria

Intestinal amyloidosis: Clinical manifestations and diagnostic challenge

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