Alpha 1 Panniculitis

Testing & diagnosis for Alpha-1 Antitrypsin Deficiency

Test and diagnosis Alpha-1 Antitrypsin

Testing for Alpha-1 Antitrypsin Deficiency is done if:

  • Emphysema begins at the age of less than 45 years and in the absence of a risk factor such as smoking, exposure to dust, etc.
  • Any person with emphysema, chronic obstructive pulmonary disease (COPD) or chronic bronchitis
  • Bronchiectasis
  • Unexplained liver disease, people with jaundice, hepatitis, portal hypertension, hepatocellular carcinoma or someone with a family history of liver disease
  • Necrotizing paniculitis or another type of paniculitis (which is a skin disease)
  • Adults with C-ANCA-Positive (Anti-proteinase 3-positive) vasculitis
  • Family history of emphysema, bronchiectasis, necrotizing paniculitis, or family history of Alpha-1 Antitrypsin Deficiency

Genetic testing is the most certain way to check for Alpha-1 antitrypsin deficiency. This test will show whether you have faulty Alpha-1 antitrypsin genes. Alpha-1 genotyping, which examines a person’s genes and determines their genotype.

Phenotyping of Alpha-1 antitrypsin proteins in the blood using a technique called isoelectric focusing. The results are two letters called the Pi type, which determine the type of Alpha-1 antitrypsin protein that a person has. Complete gene sequencing that explains the DNA sequence of the Alpha-1 which is useful for clarifying the Alpha-1 gene mutations uncommon.

Details of the mode of genetic transmission can also be found on the page: How is Alpha-1 inherited?

For the diagnosis of Alpha-1 Antitrypsin Deficiency, the serum level of Alpha-1 antitrypsin is also determined. Because it is an acute phase protein and increases during inflammatory processes, once it is determined, the C-Reactive Protein level should be also determined.
If C-Reactive Protein is increased, the value of Alpha-1 Antitrypsin is not accepted.
If the serum level of Alpha-1 Antitrypsin is low below normal, genotyping and phenotyping is recommended if these have not been done.

Once there is a clinical suspicion of panniculitis, having a suggestive history and a physical examination, in addition to blood tests to determine the level of circulating Alpha-1 antitrypsin, genotype, phenotype or complete sequencing, the diagnosis of panniculitis is made by biopsy samples of skin lesions, deep excisional biopsies with a large amount of tissue.