Related Experiment Videos
Sea blue histiocytosis. A clinical cytologic and nosographic study on 23 cases
Insights
Sea-blue histiocytosis (SBH) involves distinct hereditary and acquired forms. Clinical presentation includes splenomegaly and bleeding, with underlying causes still under investigation.
Area of Science:
- Hematology
- Pathology
- Genetics
Background:
- Sea-blue histiocytosis (SBH) is a rare disorder characterized by lipid accumulation in histiocytes.
- Understanding its diverse clinical and nosographic aspects is crucial for accurate diagnosis and management.
Purpose of the Study:
- To delineate the clinical, cytologic, and nosographic features of SBH.
- To differentiate between hereditary and acquired forms of SBH.
- To investigate the cellular and enzymatic characteristics of SBH.
Main Methods:
- Literature review of approximately 40 cases.
- Analysis of 23 personal patient cases.
- Optical, cytochemical, and electron microscopic investigations of affected cells.
Main Results:
- Identified three nosological conditions: hereditary disease, hereditary asymptomatic, and acquired asymptomatic SBH.
- Hereditary SBH often presents with splenomegaly, hemorrhagic diathesis due to thrombocytopenia, and potential organ involvement (hepatomegaly, lungs, nervous system, eyes).
- A rare, distinct hereditary form linked to plasma lecithin-cholesterol acyltransferase deficiency was noted; cellular morphology is polymorphous, and the enzymatic defect in the common form remains unclear.
Conclusions:
- SBH encompasses at least two well-defined entities.
- The presence of SBH in various hematologic conditions parallels Gaucher cells outside Gaucher's disease.
- Further research is needed to elucidate the enzymatic defect in the most frequent form of SBH.
Abstract:
The authors examine the main clinical, cytologic and nosographic aspects of conditions and syndromes associated with SBH on the basis of the literature data (about 40 cases) and 23 personal ones. It is necessary to distinguish between three nosological conditions of SBH: hereditary disease, hereditary asymptomatic, acquired per se asymptomatic. From the clinical viewpoint less a half of all SBH cases are hereditary and present a syndrome based on splenomegaly, periodic hemorrhagic diathesis (due to variable thrombocytopenia), not rarely associated with hepatomegaly and lung or nervous system changes (often eyes are involved). There is also a second SBH hereditary form, vary rare and clinically different from the former, determined by deficiency of plasma-lecitin-cholesterol acyltransferase. The peculiar features of SBH are discussed by means of optical, cytochemical, electron microscopical investigations which point out the polymorphous aspect of these "famished" macrophages. The material stored by SBH is heterogeneous and the enzymatic defect of the most frequent form still remains obscure. The presence of SBH in different haemopathies has an analogous significance as Gaucher's cells found outside Gaucher's disease. It is impossible today to deny the existence of two well-identified SBHS.