Hepatomegaly, weight loss and general malaise – the first manifestations of primary systemic amyloidosis

Abstract

Amyloidosis is characterised by the accumulation of poorly soluble fibrous proteins in the extracellular space of various bodily organs. Light chain amyloidosis (AL) is recognised as the most common form of systemic amyloidosis. Light chains are deposited in the majority of bodily organs, and accumulation of them in the liver produces hepatomegaly. We report a case of AL-systemic amyloidosis with liver involvement in a 71-year-old woman. Hepatomegaly, weight loss and general malaise were the first manifestations of the disease. Liver biopsy found amyloid deposits along the sinusoids as well as in the space of Disse, inside the vascular wall and in connective tissue of the portal tracts, which showed a positive reaction in Congo Red stain. Further diagnosis showed the presence of systemic amyloidosis. The patient was put on cyclophosphamide and steroid therapy.

Autopsy findings in a patient with primary systemic AL (kappa light chain) amyloidosis

“…Patients with systemic amyloidosis often present gastrointestinal involvement that may explain altered intestinal habits, lack of appetite, and latent hemorrhages due to direct mucous membrane impairment, aggression to the integrity of blood vessels, and changes of neuropathic nature. 24 Secondary protein-losing enteropathy, associated with refractory nausea and vomiting, has been described in some patients and can lead to severe hypoalbuminemia. 25 A complete clinical history of the patient was unavailable.…”

Incomplete ileus and hemafecia as the presenting features of multi-organ involved primary systemic AL amyloidosis: a rare case report

“…Cardiac amyloidosis manifests itself by a circulatory failure, and the typical light chain amyloidosis of the heart can be revealed by the ECG and ECHO [5]. As for gastrointestinal amyloidosis, small bowel is the most commonly affected site, followed by stomach, colon and esophagus [6].…”

“…Kidney is the most frequently affected organ, where the amyloid deposits in the renal glomerulus and interstitial tissue resulting in proteinuria, nephritic syndrome and renal failure [ 4 ]. Cardiac amyloidosis manifests itself by a circulatory failure, and the typical light chain amyloidosis of the heart can be revealed by the ECG and ECHO [ 5 ]. As for gastrointestinal amyloidosis, small bowel is the most commonly affected site, followed by stomach, colon and esophagus [ 6 ].…”

Primary Amyloidosis - In a Case with Normal Plasma Cell Counts

“…In our case, the patient presented with increased levels of ALP and gamma glutamyltransferase suggestive of cholestasis, secondary to amyloidosis which is characteristic of such condition [8].…”