Below is a liver biopsy from a 41-year-old fireman with right upper quadrant pain.
Biopsy stains are: A--PAS; B--Immunohistochemical staining of the hepatocytes of our patient; and C--a control patient. His biopsy demonstrated periportal and intrahepatocyte PAS positive globules that were diastase resistant.
What rare disease does the patient have?
What other organ system would you be concerned about?
What test would you obtain?
This is a case of alpha-1-antitrypsin deficiency. His spirometry was normal, but he was a fireman and had serial pulmonary function test over the past 6 years. His FEV-1 is declining 170 ml per year which far exceeds the expected rate of lung loss per year for his age group. His liver is consistent with hepatitis associated with alpha-1 deficiency.
The organ of concern in these patient is the lung. Patients with alpha-1-antitrypsin deficiency are at increased risk for COPD or emphysema. To confirm a diagnosis, serum alpha-1-antiripsin levels should be measured.
Alpha-1-antitrypsin deficiency should be suspected in patients with the following:
emphysema at an early age (age 45 y or younger)
emphysema in a patient with the absence of a recognized risk factor like smoking or occupational dust exposure
emphysema of the lower lungs
asthma with persistent airflow obstruction after treatment
unexplained liver disease
antiproteinase 3-positive vasculitis (antineutrophil cytoplasmic antibody [C-ANCA]–positive vasculitis)
bronchiectasis without a clear etiology
family history of emphysema, bronchiectasis, liver disease, or panniculitis.
American Thoracic Society, European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med
. Oct 1 2003;168(7):818-900.