Viral hepatitis panel, iron studies, serum ceruloplasmin, alpha-1-antitrypsin, anti-mitochondrial antibodies
, anti-smooth muscle antibodies, and anti-nuclear antibodies were unremarkable, ruling out infectious and autoimmune causes, making the etiology of his cirrhosis and abdominal complaints likely cardiogenic in origin.
Furthermore, PBC was diagnosed according to her raised alkaline phosphatase and positive serum anti-mitochondrial antibodies
, excluding other causes of cholestasis.
Extensive workup for other causes of liver injury was negative including viral hepatitis serologies, anti-nuclear antibodies, smooth muscle antibodies, anti-mitochondrial antibodies
, ceruloplasmin, acetaminophen level, and iron studies.
Key Words: Primary biliary cirrhosis, Splenomegaly, Anti-mitochondrial antibodies, Alkaline phosphatase
Anti-mitochondrial antibodies (AMA) directed against the E2 subunit of pyruvate dehydrogenase (PDH-E2) which is a member of the inner mitochondrial membrane-expressed oxoacid dehydrogenase complex, and ketoglutarate dehydrogenase are present in 95% of the patients3.
Investigations for hereditary and autoimmune diseases including serum ceruloplasmin level, serum ferritin, serum transferrin saturation, anti-mitochondrial antibodies
were within normal range.
The diagnostic criteria of PBC includes biochemical evidence of cholestasis such as elevated alkaline phosphatase (ALP) and GGT, presence of disease-specific anti-mitochondrial antibodies
and histological features of PBC.
Among the patients with autoimmune diseases or with various intestinal diseases, 10 had values above the cutoff: 6 patients with type 1 AH [all positive for anti-smooth muscle antibodies (ASMAs)]; 2 patients with primary biliary cirrhosis (both positive for anti-mitochondrial antibodies
and 1 positive for ASMAs), and 2 patients with multiple food intolerance.
In patients with PBC, anti-CA antibodies are often associated with the presence of anti-mitochondrial antibodies
, particularly anti-pyruvate dehydrogenase (17-19), which is the main diagnostic marker of the disease (20, 21).
(b) Hist, histones; ND, not done; Neg, negative; CTD, connective tissue disease; RA, rheumatoid arthritis; RF, rheumatoid factor; AMA, anti-mitochondrial antibodies
. Table 4.
IF detects various subtypes of anti-mitochondrial antibodies
, but lacks the ability to detect specific antigens, such as the M2 subtype, which is highly specific for primary biliary cirrhosis.