Liver Disease in α1-Antitrypsin Deficiency

Abstract

We identified children with alpha 1-antitrypsin deficiency from the medical records of the Massachusetts General Hospital and Children's Hospital, Boston, and investigated their early feeding history. Between 1969 and 1983, forty children with the deficiency were seen at one or both hospitals. Clinical information was obtained from hospital records and from questionnaires mailed to the parents. Complete morbidity, mortality, and early feeding data were obtained for 32 of the children who were born at 38 to 42 weeks' gestation and whose weights were appropriate for gestational age. We compared the presence of severe liver disease and the death rate of those who had been exclusively breast-fed for one month with those who had been bottle-fed. Severe liver disease was present in eight (40%) of bottle-fed and one (8%) of breast-fed infants. Twenty-four of the 32 infants were still alive at the termination of the study; 12 had been breast-fed and 12 bottle-fed during their first month of life. All eight deceased infants had been bottle-fed. The mortality rate in the bottle-fed group was significantly greater than that of the breast-fed group. Our study suggests that breast-feeding may offer some protection against severe liver disease and early death in infants with alpha 1-antitrypsin deficiency.

Liver Involvement in Infants with PiSZ Phenotype of α1‐Antitrypsin Deficiency

“…Considering the benign clinical picture, liver function tests , and our limited histological data, we may assume that this specific ai-AT deficiency is associated with a low risk of developing liver cirrhosis later in life. In addition, it seems likely from our current experience on 14 SZ carriers and > 1,000 heterozygous infants (unpublished data) that breast-feeding may not be important to prevent liver damage in these specific Pi phenotype carriers (6).…”

“…All 14 PiSZ infants were appropriate for gestational age. Healthy and liver-compromised carriers were both breast-fed for an average period of 2.5 months (6). Height, weight, and clinical findings were normal in all infants at each control.…”

Vitamin E and liver damage in MZ heterozygous infants with alpha1‐antitrypsin deficiency

“…The deficiency of circulating or locally secreted MI-AT would make the hepatocytes vulnerable to proteolytic enzymes. The liver involvement may be caused by direct cellular injury resulting from abnormally high quantities of oxygen free radicals originating from an increase in proteases in the liver which have not been neutralized by the very low circulating levels of al-AT (1,19). As illustrated in Fig.…”

Breastfeeding Infants With Problems

“…If an infant is breastfed, the mother may be forced to wean, yet the infant feeds even less well and has no weight gain on formula. Udall et al 187 investigated the relationship between early feedings and the onset of liver disease. Pumping to increase mother' s milk supply will help the child' s hunger.…”