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Hepatic pathology of chronic granulomatous disease of childhood
R E Nakhleh1, M Glock, D C Snover
1Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis.
Abstract:
We reviewed the hepatic pathology of seven cases of chronic granulomatous disease of childhood. All patients were male, with an age range of 5 to 41 years. Hepatic biopsy with drainage or wedge resection was performed in five cases to remove abscesses. Autopsy was performed in three cases. Presentation was typical of infection (fever, leukocytosis) with an elevated serum alkaline phosphatase level. Histologically, the most consistent feature was the presence of foamy macrophages that contained a finely granular golden brown pigment, seen in all seven cases. These were present as small collections predominantly in the portal tracts but were also found in the lobules. Palisading granulomas with central necrosis and associated giant cells were seen in four cases, one of which also had occasional lobular epithelioid granulomas. One case showed hyalinized portal and lobular granulomas. Four cases that showed palisading granulomas cultured positive for Staphylococcus aureus. One case cultured Pseudomonas cepacia, and one case cultured Streptococcus intermedius. Although palisading granulomas are typical of chronic granulomatous disease, they are not seen in all cases. These granulomas are similar to granulomas that are seen with Candida and other fungal infections and therefore are not specific for chronic granulomatous disease of childhood. The pigmented macrophages appear to be a consequence of the primary defect of the disease and are not secondary to infection and associated inflammation.
Insights
Chronic granulomatous disease (CGD) in children often presents with liver issues. Key findings include pigmented macrophages, a consistent marker, and granulomas, though not always present or specific.
Area of Science:
- Pediatric Pathology
- Immunology
- Hepatology
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency affecting phagocyte function.
- Hepatic involvement is common in CGD, often presenting as abscesses or granulomas.
- Accurate histological diagnosis is crucial for managing CGD and its complications.
Purpose of the Study:
- To characterize the spectrum of hepatic pathology in pediatric chronic granulomatous disease.
- To identify specific histological features indicative of CGD in the liver.
- To evaluate the diagnostic specificity of granulomas and pigmented macrophages in CGD.
Main Methods:
- Retrospective review of hepatic pathology from seven male patients with CGD (ages 5-41).
- Analysis of histological findings from liver biopsies and autopsies.
- Correlation of histological features with microbiological cultures.
Main Results:
- Foamy macrophages with golden-brown pigment were present in all seven cases, predominantly in portal tracts.
- Palisading granulomas with necrosis and giant cells were observed in four cases.
- Microbiological cultures identified Staphylococcus aureus, Pseudomonas cepacia, and Streptococcus intermedius.
- Pigmented macrophages are considered a consequence of the primary CGD defect, not secondary inflammation.
Conclusions:
- Pigmented foamy macrophages are a consistent and potentially specific histological marker for hepatic CGD.
- While granulomas can be present, their absence or non-specific appearance does not rule out CGD.
- Understanding these hepatic manifestations aids in the diagnosis and management of pediatric CGD.