Testing and Diagnosis

• Should Your Patient Be Tested
• Your Newly Diagnosed Patient
• Managing Your AAT Deficient Patient

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Early diagnosis of AAT deficiency* is important because, with appropriate therapy and lifestyle modifications, the progression of lung disease may be slowed.

*Also known as Alpha-1, alpha-1 antitrypsin deficiency, AATD, A1-PI deficiency, alpha-1 proteinase deficiency, A1AD, or hereditary or genetic emphysema.

Who Should Be Tested

Current recommendations in the ATS/ERS Statement¹ support testing of all your patients with:

• Early-onset emphysema (age 45 years or less, regardless of smoking history)
• Family members of known alpha-1 antitrypsin-deficient patients
• Dyspnea and cough occurring in multiple family members in same or different generations
• Emphysema in the absence of a recognized risk factor (smoking, occupational dust exposure, etc.)
• Emphysema with prominent basilar hyperlucency
• Otherwise unexplained liver disease
• All subjects with chronic obstructive pulmonary disease (COPD)
• Bronchiectasis without evident etiology
• Asthma with spirometry that fails to return to normal with therapy
• Necrotizing panniculitis
• Anti-proteinase 3-positive vasculitis (C-ANCA [anti-neutrophil cytoplasmic antibody]-positive vasculitis)
• Family history of any of the following: emphysema, bronchiectasis, liver disease, or panniculitis

ATS/ERS Standards

"It is recommended that all subjects with COPD or asthma characterized by incompletely reversible air flow obstruction should be tested once for AAT deficiency."¹

Testing for AAT Deficiency

Testing for AAT deficiency begins with a simple blood test – an immunoassay – to determine the concentration of AAT protein in plasma or serum.

Blood tests will reveal three types of patients:

	Level in milligrams per deciliter (mg/dL)	Level in micromolar units (µM)
Normal	≥150 mg/dL	≥20 µM
Borderline Normal	90-140 mg/dL	12-19 µM
Deficient	<80 mg/dL	<11 µM

Patients who are deficient or borderline should undergo a second blood test – phenotyping – to confirm the genetic abnormality that causes AAT deficiency.¹

Phenotyping for AAT deficiency is complicated, with more than 90 different gene mutations (alleles) identified. The most common alleles are M(normal), and S, Z, and null (deficient). ¹ The chart below shows how to evaluate the results of phenotyping.

(Measured by Radial Immunodiffusion)	Normal Range	Deficient Range
Units: mg/dL	150 – 350	<80*
Units: µM	20 – 48	<11
*Or less than 50 mg/dL if measured by laboratories using nephelometry instead of radial immunodiffusion