Familial pulmonary emphysema - abstract

ABSTRACT

Two brothers, aged 39 years and 37 years, of African origin, attending the University Hospital of the West Indies, have been shown to have familial pulmonary emphysema with a severe depletion in serum alpha - 1 antitrypsin levels, the main proteinase inhibitors in human serum. Previous reports of this disorder have come from the United States of America and Europe. This is the first report from the Caribbean, and the second of its occurrence in subjects of African descent. The elder brother, who is the worse affected, noted breathlessness from 27 years of age, and is now totally disabled. The younger brother, became dyspnoeic at 32 years and now has to stop for breath after walking 100 yard, Both have a chronic cough with intermittent sputum production. Initially they were heavy smokers, but dyspnoea has forced the younger brother to reduce his consumption, and the elder brother to give up the habit. Chest radiographs and , in the younger brother lung volume and pulmonary gas transfer studies confirm emphysema. The elder brother is too ill to have lung function tests. The disease is inherited as a Mendelian recessive disorder. Serum alpha - 1 antitrypsin levels of both brothers are less than 25 mg per cent indicative of the homozygous state. The mother, one brother, and all three of the patients' children are heterozygotes for the gene with levels between 25 mg and 150 mg per cent. One brother and two sisters, and all their children have normal levels in excess of 150 mg per cent. The father died some years ago, but had no history of lung disease. The nature of the association between pulmonary emphysema and low levels of serum alpha - 1 antitrypsin remains uncertain (AU)