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)