Alpha 1-antitrypsin deficiency has to be differentiated from other conditions with similar presentation like autoimmune hepatitis, bronchiectasis, bronchitis, chronic obstructive pulmonary disease (COPD),cystic fibrosis,emphysema,primary ciliary dyskinesia (Kartagener Syndrome),viral hepatitis.
Differentiating Alpha 1-antitrypsin deficiency from Other Diseases
Alpha 1-antitrypsin deficiency presents with symptoms of
Differential diagnosis of jaundice and Right upper quadrant abdominal pain includes
Jaundice and RUQ pain differential diagnosis are:
Classification of jaundice based on etiology
Disease
History and clinical manifestations
Diagnosis
Lab Findings
Other blood tests
Other diagnostic
Family history
Fever
RUQ Pain
Pruritis
Hepatomegaly
AST
ALT
ALK
BLR Indirect
BLR Direct
Viral serology
Jaundice
Hepatocellular Jaundice
Hemochromatosis
+
-
-/+
-
+
↑
↑
↑/N
↑/N
N
-
Ferritin ↑
Liver biopsy
Wilson's disease
+
-
-/+
-
+
↑
↑
N
↑/N
N
-
Serum cerulloplasmin ↑
Liver biopsy
Alcoholic hepatitis
-
-/+
-/+
-
+
↑↑
↑
N
↑/N
N
-
-
-
Cirrhosis
-/+
-/+
-/+
-
-/+
↑
↑
↑/N
↑/N
↑/N
-/+
Low platate
Small liver on ultrasond
Alpha 1-antitrypsin deficiency
+
-/+
-/+
-
+
↑
↑
↑/N
↑/N
↑/N
-
Serum alpha1-antitrypsin levels decreased
Hepatomegaly on CT
Cholestatic Jaundice
Common bile duct stone
-/+
-
+
+
-/+
N
N
↑
N
↑
-
Dilated ducts on sono
CT/ERCP
Hepatitis A cholestatic type
-
-/+
+
+
-/+
N
N
↑
N
↑
+
HAV- AB
Abdominal ultrasound
EBV / CMV hepatitis
-
-/+
+
+
-/+
N
N
↑
N
↑
+
Positive serology
Primary biliary cirrhosis
-/+
-
-/+
+
-/+
N/↑
N/↑
↑
N
↑
-
AMA positive
Liver biopsy
Primary sclerosing cholangitis
-/+
-
-/+
+
-/+
N/↑
N/↑
↑
N
↑
-
Beading on MRCP
Liver biopsy
Pancreatic carcinoma
+
-
-/+
-
-/+
N/↑
N/↑
↑
N
↑
-
Mass on ultrasond
CT scan for diagnosis
The differential diagnosis of jaundice, fever, and RUQ pain are:
Classification of jaundice based on etiology
Disease
History and clinical manifestations
Diagnosis
Lab Findings
Other blood tests
Other diagnostic
Family history
Fever
RUQ Pain
Pruritis
Hepatomegaly
AST
ALT
ALK
BLR Indirect
BLR Direct
Viral serology
Jaundice
Hepatocellular Jaundice
Alcoholic hepatitis
-
-/+
-/+
-
+
↑↑
↑
N
↑/N
N
-
-
-
Cirrhosis
-/+
-/+
-/+
-
-/+
↑
↑
↑/N
↑/N
↑/N
-/+
Low platate
Small liver on ultrasond
Alpha 1-antitrypsin deficiency
+
-/+
-/+
-
+
↑
↑
↑/N
↑/N
↑/N
-
Serum alpha1-antitrypsin levels decreased
Hepatomegaly on CT
Cholestatic Jaundice
Hepatitis A cholestatic type
-
-/+
+
+
-/+
N
N
↑
N
↑
+
HAV- AB
Abdominal ultrasound
EBV / CMV hepatitis
-
-/+
+
+
-/+
N
N
↑
N
↑
+
Positive serology
PCR or ELISA
Differential Diagnoses of Alpha 1-antitrypsin deficiency includes:
Cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction evidenced by :
Elevated sweat chloride ≥60 mmol/L (on two occasions)
Presence of two disease-causing mutations in CFTR, one from each parental allele
Abnormal nasal potential difference
Xray :
Hyperinflation presents as:
flattening of the diaphragm
anterior bowing of the infant sternum
increased retrosternal air space
generalized pulmonary overinflation.
Multiple nodular densities represent mucus plugging and may present in finger-in-glove shape or as a combination of V- or Y-shaped branching and bandlike shadows.
Abdominal findings include dilated multiple loops of the small bowel are seen in neonatal meconium ileus and in meconium ileus.
Emphysema
+/-
Productive
-
+
+/-
+
Arterial blood gas analysis: mild-to-moderate hypoxemia without hypercapnia that progresses to worsening hypoxemia and hypercapnia develops.
Chronic hypoxemia may lead to polycythemia.
Sputum is mucoid and the predominant cells are macrophages.
Chest X-ray reveals signs of emphysema include:
flattening of diaphragms
increased retrosternal air space (see on lateral chest films)
a long narrow heart shadow.
tapering vascular shadows
hyperlucency of the lungs
Primary Ciliary Dyskinesia (Kartagener Syndrome)
+/-
Productive
-
+
+
+
Low or absent amount of nasal nitric oxide (nNO). mucociliary clearance may be useful for screening,
confirmation with tests of ciliary function and ultrastructure
Chest X-ray reveals :
Bronchial wall thickening
Bronchiectasis and hyperinflation
Cystic bronchiectasis with air-fluid levels may be visible
Usually involves the lower and middle lobes.
Alpha 1-antitrypsin deficiency
+/-
Productive
-
+
+
+
Reduced concentration of serum alpha1-antitrypsin levels is diagnostic of AATD.
Moderate-to-severe airflow obstruction with an FEV1
Reduced vital capacity
Increased lung volumes secondary to air trapping (residual volume >120% of predicted value) are usually present
a hyperlucent appearance because healthy tissue has been destroyed.
Affected regions also are described as oligemic because they lack the normal rich pattern of branching blood vessels.
An unusual characteristic in alpha1-antitrypsin deficiency is found in about two thirds of PiZZ patients; the emphysema has a striking basilar distribution.
In contrast, cigarette smoking is associated with more severe apical disease.
AATD can present as neonatal jaundice. The diffrential diagnosis for neonatal jaundice is:
Differential diagnosis of jaundice
The differential diagnosis for jaundice, click here.
The differential diagnosis for jaundice and RUQ pain, click here.
The differential diagnosis for jaundice and pruritis, click here.
The differential diagnosis for jaundice and fever, click here.
The differential diagnosis for jaundice, fever, and RUQ pain, click here.
The differential diagnosis for jaundice, pruritis and RUQ pain, click here.