In this case report we present a patient with cholestatic jaundice, abdominal pain and vomiting, which was caused by an acute exacerbation of chronic pancreatitis and an organising thrombus in the porta hepatis. The underlying cause of these events revealed at postmortem examination was light chain amyloidosis, which may have been caused by a B lymphocyte dyscrasia (including multiple myeloma). The most common form of amyloidosis is the primary form, where the deposits consist of AL type protein (comprised of immunoglobulin light chains, mainly λ). In up to 15% of cases, this type of deposit coexists with multiple myeloma. The second most common form is called reactive or secondary amyloidosis. In this condition, the AA type deposits are derived from serum amyloid protein synthesised in the liver. This form is related to infectious and non-infectious chronic inflammatory conditions (ie, connective tissue disorders, Crohn’s disease, tuberculosis).5,6
The liver is a common site of amyloid deposition in both primary (AL) and secondary (AA) amyloidosis.7
According to multiple studies it can be affected in up to 92% of cases, but clinical manifestations of liver amyloidosis are less frequent and often mild.6
The symptoms of hepatic involvement may include right upper quadrant fullness and discomfort due to hepatomegaly, feeling of early satiety, chronic nausea, dyspepsia, and weight loss. Other common organs and systems affected by amyloid deposition are kidneys, heart and the peripheral nervous system. Therefore, patients may present with renal insufficiency or nephritic syndrome, congestive heart failure, or autonomic or peripheral neuropathy. Carpal tunnel syndrome can be observed in some cases. The gastrointestinal tract can also be affected by the deposition of the β pleated sheet protein causing gastroparesis, haematemesis and pseudo-obstruction—to name just a few of many possible presentations.1,6
Biochemical markers of liver involvement are present in approximately every fourth case of amyloidosis. The incidence of elevated alkaline phosphatase (ALP) values ranges from 16–86% of cases of amyloidosis.1,3,6,7
Elevated serum bilirubin values occurred in 4–8% of reported cases.5
Decreased values of albumin are also reported, the aetiology of which can be nephritic syndrome or reduced synthesis by the affected liver.3
The deposition of protein in the liver can indirectly affect the hepatocytes and cause atrophy, degeneration and necrosis with subsequent regenerative changes.5,8
Mentioned histopathologic changes can contribute to the biochemical changes in liver enzymes serum activity. Large quantities of amyloid in the space of Disse interfere with bile and blood flow giving the appearance of cholestatic jaundice and rarely occurring portal hypertension.1
The deposits of amyloid have also been reported in large intrahepatic and extrahepatic ducts, causing their dilatation and manifesting as obstructive jaundice,6
which occurred in our case.
Diagnosis of amyloidosis requires a tissue biopsy. In the case of hepatomegaly, the material can be acquired via percutaneous liver biopsy. This procedure carries a risk of liver rupture and life threatening haemorrhage in up to 5% of cases.6
Other possible sites for obtaining histological material are the rectum, subcutaneous fat and bone marrow.3
The dye Congo red gives the deposits a pink or red appearance, which under polarised light has a green birefringence.5
Serum and urine electrophoresis, immunofixation electrophoresis, CT and ultrasound scans are also used in the diagnostic process, but none of them are sufficient for definite diagnosis of amyloidosis.
The only biochemical marker related to prognosis is the elevated serum bilirubin concentration, in which case the survival time varies from 0.5 to 15 months. The median survival time in primary amyloidosis is below 2 years. Heart failure, multiple myeloma and hepatomegaly associated with light chain proteinuria significantly affect survival time.3
To date, no curative therapy for amyloidosis has been developed. Some improvement in symptoms and prolonged survival can be achieved with chemotherapy.6
This case is particularly interesting due to the patient’s presentation with obstructive jaundice and right upper quadrant pain. Also, subsequent CT scans failed to demonstrate the peritoneal amyloid deposits found at postmortem examination. Interestingly the cause of this woman’s obstructive jaundice was due to either extrinsic compression of the common bile duct by an organising mesenteric thrombus at the porta hepatis or amyloid deposits within the pancreas. This mesenteric thrombus was likely to have been reactive in origin secondary to a hypercoaguable state induced by systemic amyloidosis.
- Amyloidosis is not a single entity but a group of conditions, which have in common the deposition of protein in various organs of the body.
- The presentation of amyloidosis with jaundice is very rare but also has a very poor prognostic value.