Severe chronic diarrhoea caused by hereditary transthyretin amyloidosis

Abstract

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.

Keywords: Gastroenterology; Genetics; Malabsorption; Small intestine.

Figure 1

Duodenum biopsy: Congo red-stained hyaline perivascular deposits.

Figure 2

Transthoracic echocardiography: cardiomyopathy-like picture of the left ventricle with slight concentric hypertrophy

Figure 3

Cardiac cine MRI of a left ventricle with thickened walls from hypertrophy, a distinct restrictive filling pattern and difficult myocardial signal washout in the sequences for late gadolinium enhancement