Alpha-1-antitrypsin, autism, and cœliac disease

The diagnosis of leukemic reticuloendotheliosis may be made with certainty by the cytochemical demonstration of the tartrate-resistant acid phosphatase isoenzyme in the reticuloendothelial cells. Supportive measures such as blood transfusions or antibiotic therapy are helpful in the treatment of this disease. Splenectomy is beneficial in cases with massive splenomegaly and hypersplenism. Four patients in this series so treated have survived for 1, 5, 10, and 14 years, respectively.

Leukemic Reticuloendotheliosis: The Role of Tartrate-Resistant Acid Phosphatase in Diagnosis and Splenectomy in Treatment

A vast spectrum of pulmonary pathologic conditions occurs in association with chronic liver diseases, and clinically important manifestations, such as arterial hypoxemia, can result. Both pulmonary vascular and parenchymal abnormalities can contribute to the dysfunction, as evidenced by results of pulmonary function tests and gas exchange studies. The clinical implications of identifying such pulmonary problems range from alleviation of symptoms, especially dyspnea, to comprehensive assessment of patients before and after liver transplantation. Physicians should be aware of these potential pulmonary disorders that can complicate liver disease and liver transplantation so that management of affected patients can be improved.

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Pulmonary aspects of chronic liver disease and liver transplantation.

. Clinical and laboratory findings in 9 adults with homozygous (Pizz) α1-antitrypsin (AAT) deficiency and cirrhosis of the liver are described. This clinical entity is characterized by rapidly progressive cirrhosis in non-alcoholics above 50 years of age, resulting in severe portal hypertension and death in hepatic coma or bleeding. Concomitant emphysema, often subclinical, is usually present and malignant hepatoma is common. Histologically typical PAS-positive inclusion bodies are always demonstrable. Cholestatic features are not prominent. The entity is not associated with the HAA antigen, and serum “auto-antibodies” are lacking. In addition to AAT deficiency the serum protein analysis reveals the pattern seen in cirrhosis of other etiology, but in most cases the IgM level was unusually high. The pathogenetic mechanism leading to cirrhosis in a minority, at most 10% of adult patients with the Pizz phenotype remains obscure.

Harry W. Bain

Papers

Symptomatic pulmonary emphysema in childhood associated with hereditary alpha-1-antitrypsin and elastase inhibitor deficiency.

Reticuloblastomatosis and the Letterer-Siwe syndrome; report of a case of leukemic reticuloblastomatosis.