Studies on the nature of the increased serum acid phosphatase in Gaucher's disease

Tuchman, Lester R.; Goldstein, Gilbert; Clyman, Martin J.

doi:10.1016/0002-9343(59)90179-2

Cited by 61 publications

(20 citation statements)

References 8 publications

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“…An increase in either chitotriosidase or chitotetraosidase activities in association with pathological conditions has so far not been reported. The increase in plasma chitotriosidase in GD patients is far more pronounced than the increase in AP activity, which has often been used as an important diagnostic hallmark of the disease ( 16,17). Even in asymptomatic GC-deficient individuals a slight elevation in chitotriosidase activity was found, whereas in these individuals AP levels were well within the control range.…”

Section: Discussionmentioning

confidence: 99%

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

Hollak

Weely²,

Oers³

et al. 1994

J. Clin. Invest.

829

663

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Gaucher disease (GD; glucosylceramidosis) is caused by a deficient activity of the enzyme glucocerebrosidase (GC). Clinical manifestations are highly variable and cannot be predicted accurately on the basis of the properties of mutant GC. Analysis of secondary abnormalities, such as elevated plasma levels of some hydrolases, may help to increase insight into the complicated pathophysiology of the disease and could also provide useful disease markers. The recent availability of enzyme supplementation therapy for GD increases the need for markers as early predictors of the efficacy of treatment. We report the finding of a very marked increase in chitotriosidase activity in plasma of30 of 32 symptomatic type 1 GD patients studied: the median activity being > 600 times the median value in plasma of healthy volunteers. In three GC-deficient individuals without clinical symptoms, only slight increases were noted. Chitotriosidase activity was absent in plasma of three control subjects and two patients. During enzyme supplementation therapy, chitotriosidase activity declined dramatically. We conclude that plasma chitotriosidase levels can serve as a new diagnostic hallmark of GD and should prove to be useful in assessing whether clinical manifestations of GD are present and for monitoring the efficacy of therapeutic intervention. (J. Clin. Invest. 1994.

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Section: Discussionmentioning

confidence: 99%

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

Hollak

Weely²,

Oers³

et al. 1994

J. Clin. Invest.

829

663

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“…An early biochemical finding in Gaucher Type 1 disease was the demonstration that the serum tartrate-resistant acid phosphatase activity was elevated [4]. Subsequent studies have confirmed this finding [5] and also demonstrated that, following splenectomy, the serum levels decrease about 50%, suggesting that the spleen is the source of about half of the circulating enzyme [6,7].…”

Section: Introductionmentioning

confidence: 99%

Tartrate‐resistant acid phosphatase staining of monocytes in gaucher disease

Troy¹,

Cuttner²,

Reilly³

et al. 1985

American J Hematol

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Cytochemical studies were performed on peripheral blood from 30 patients with type 1 Gaucher disease. In 29 of the patients, peripheral blood monocytes stained positively for tartrate-resistant acid phosphatase, whereas monocytes from 18 normal individuals and 14 patients with monocytosis did not. In the Gaucher patients, the percentage of monocyte positivity for tartrate-resistant acid phosphatase ranged from 2 to 97. There was no correlation between the percent monocyte staining and the degree of disease severity, as measured by hepatosplenomegaly, pancytopenia, or extent of bone disease, for the group as a whole. In Gaucher patients who had not undergone splenectomy, however, there was a significant correlation between percent monocyte staining and the degree of hepatosplenomegaly, anemia, and thrombocytopenia. The presence of tartrate-resistant acid phosphatase may be secondary to the lysosomal accumulation of glucosyl ceramide within these monocytes, although this remains to be confirmed. If so, these circulating cells may represent precursors of the Gaucher cells in tissues. Tartrate-resistant acid phosphatase staining of peripheral blood monocytes may be useful as a diagnostic marker for Gaucher type 1 disease and for further studies on the pathogenesis of the disease.

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“…A previous survey of serum AcP in pulmonary disease, including carcinoma of the bronchus, showed no marked elevations (Pelocchino and Concina, 1956). Increased AcP activity has also been noted in association with carcinoma of the stomach (Simon and Nygaard, 1959), carcinoid tumour of the rectum (Davidson and McDougal, 1976), Gaucher's disease (Tuchman et al, 1959), multiple myeloma (Frenkel and Tourtellotte, 1962), leukaemias (Bases, 1966), thromboembolic disorders (Schoenfeld et al, 1962), and multiple endocrine adenomatosis (Mick, 1972). Recent isoenzyme studies on AcP have suggested that abnormal patterns may be more frequent than is usually recognised, as the total AcP level may be normal (Yam, 1974).…”

Section: Discussionmentioning

confidence: 99%

Acid phosphatase activity in carcinoma of the bronchus

Nicholls¹,

Davies²

1977

Thorax

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. (1977). Thorax, 32,[472][473][474][475][476][477]. Acid phosphatase activity in carcinoma of the bronchus. Two cases are presented in which an undifferentiated small-cell carcinoma of the bronchus was associated with a considerably raised serum tartrate-labile acid phosphatase concentration. In neither case was there any evidence of a carcinoma of the prostate which, with a few rare exceptions, is the only condition associated with such increased enzyme activity. A survey of acid phosphatase concentrations in 30 other male patients with carcinoma of the bronchus showed that five patients had a raised total acid phosphatase concentration, but only one patient had a raised tartrate-labile acid phosphatase concentration. When the histological type was taken into account, elevated total acid phosphatase concentrations were associated with squamous-cell and adenocarcinoma but not with undifferentiated, small-cell carcinoma. Raised tartrate-labile acid phosphatase concentrations were associated only with squamous-cell carcinoma, in contradistinction to the two individual cases reported. In no group was there any correlation between acid and alkaline phosphatase concentrations.Histological studies in one of our patients showed little tissue acid phosphatase staining in the primary tumours but intense staining in the cytoplasm of pancreatic cells surrounding a metastasis. Sections of pancreas from six normal subjects showed only slight tissue acid phosphatase activity. The possible sources of the increased serum acid phosphatase are discussed, and it is suggested that the pancreas could be the source of such increased activity in our second case.Acid phosphatase (AcP) activity in the serum is derived from several sources. The fraction arising from the prostate gland is usually isolated by tartrate-inhibition (Abul-Fadl and King, 1949), but the specificity of this has been questioned (Dow and Whitaker, 1970;Yam, 1974). Both the total and the tartrate-labile AcP in the serum may be increased in diseases other than carcinoma of the prostate (Sullivan et al., 1942;Herbert, 1946;Cooke et al., 1962) or by artefact (Bonner et al., 1954;Ozar et al., 1955). Marked elevation of either fraction is rarely found except in carcinoma of the prostate (Bensley et al., 1948;Cline et al., 1955) and has not previously been described in association with carcinoma of the bronchus.

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Studies on the nature of the increased serum acid phosphatase in Gaucher's disease

Cited by 61 publications

References 8 publications

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

Tartrate‐resistant acid phosphatase staining of monocytes in gaucher disease

Acid phosphatase activity in carcinoma of the bronchus

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