Hepatic familial amyloidosis caused by a new mutation in the apolipoprotein AI gene: clinical and pathological features.
OBJECTIVE
Recently, we reported a nondescribed deletion/insertion mutation in the apolipoprotein AI gene as the cause of hereditary amyloidosis with hepatic presentation. We describe the clinical and pathological features of this type of amyloidosis in one affected family.


METHODS
Demographic, clinical, and biochemical data were obtained from 33 members of the family in whom the apolipoprotein AI gene was studied. Diagnosis was based on the detection of the apolipoprotein AI gene mutation, scintigraphy using radioionated serum amyloid P component, and histological and immunohistochemical studies.


RESULTS
Eight members with the mutation had hepatic involvement. Six patients were practically asymptomatic, presented with an elevation of alkaline phosphatase and gamma-glutamyl transpeptidase, and remained stable during follow-up (7.6 +/- 4.9 yr). One patient had jaundice, developed ascites and encephalopathy, and died of hepatorenal syndrome a few months after diagnosis. Jaundice and portal hypertension appeared in the remaining patient, who died 4 yr later.


CONCLUSIONS
This form of familial amyloidosis is characterized by elevation in serum alkaline phosphatase and gamma-glutamyl transpeptidase secondary to amyloid deposits in the portal tracts. Patients remain stable and asymptomatic for many years, but portal hypertension and liver failure can develop later in life and lead to death. Thus, patients should be observed regularly and liver transplantation should be indicated when progression is detected.
Caballería
J
J
Department of Pathology, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, Spain.
Bruguera
M
M
Solé
M
M
Campistol
J M
JM
Rodés
J
J
D000328:Adult; D000469:Alkaline Phosphatase / Q000032:analysis; D000686:Amyloidosis / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D016632:Apolipoprotein A-I / Q000032:analysis / Q000235:genetics*; D005260:Female; D006801:Humans; D008099:Liver / Q000737:chemistry / Q000473:pathology; D008107:Liver Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D005723:gamma-Glutamyltransferase / Q000032:analysis
D016632:Apolipoprotein A-I; D005723:gamma-Glutamyltransferase; D000469:Alkaline Phosphatase