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Chinese Erdheim-Chester disease: clinical-pathology-PET/CT updates
Huanyu Ding1, Yang Li2, Caishun Ruan3
1Endocrinology and , the First Affiliated Hospital of Sun Yat-sen University , Guangzhou, 510080 , People's Republic of China.
Insights
Erdheim-Chester disease (ECD), a rare histiocytosis, presents with central diabetes insipidus and multi-organ involvement. Early consideration and diagnosis are crucial for effective treatment.
Area of Science:
- Histiocytosis and Immunology
- Oncology
- Radiology
Background:
- Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by foamy histiocyte accumulation.
- Clinical presentation often includes central diabetes insipidus and multi-organ involvement, posing diagnostic challenges.
Purpose of the Study:
- To report a case of ECD with detailed clinical and pathological findings.
- To review and summarize the clinical features of previously reported ECD cases in China.
- To highlight diagnostic considerations and differential diagnoses for ECD.
Main Methods:
- Case report of a 53-year-old male diagnosed with ECD.
- Review of 13 previously reported Chinese ECD cases.
- Diagnostic tools included MRI, PET/CT, bone biopsy with histopathology and immunohistochemistry (CD68, CD207, S-100, IgG4).
Main Results:
- The patient presented with central diabetes insipidus, fever, splenomegaly, and anemia.
- PET/CT revealed pituitary involvement and multi-organ disease.
- Biopsy confirmed granulomatous infiltration of foamy histiocytes, positive for CD68 and negative for CD207/Langerin and S-100.
- Treatment with pegylated interferon was effective.
Conclusions:
- ECD should be suspected in patients with central diabetes insipidus and multisystem involvement, particularly bone lesions or fever.
- PET/CT is valuable for lesion localization and guiding biopsies.
- Immunohistochemistry is critical for diagnosis, and ECD may be linked to immune disorders.
Unlabelled:
Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell histiocytosis, has been rarely seen and is characterized by the accumulation of foamy CD68+CD1a- histiocytes. We reported a case of ECD and reviewed the clinical features of 13 cases of ECD reported so far in China. A 53-year-old male was diagnosed with central diabetes insipidus in March 2014, followed by fever, splenomegaly and anemia in July 2014. His initial pituitary magnetic resonance imaging (MRI) revealed the absence of high signal at T1-weighted image in posterior pituitary without any lesion. A further positron emission tomography/computer tomography (PET/CT) images showed elevated metabolic activity of (18)F-2-fluro-D-deoxy-glucose (FDG) and low (13)N-NH3 uptake in the posterior pituitary, and multi-organ involvement. Biopsy at right femur lesion revealed that granulomatous infiltration of foamy histiocytes and Touton giant cells surrounded by fibrosis tissues. Immunohistochemistry stain was positive for CD68, negative for CD207/Langerin and S-100. The diagnosis of ECD was confirmed and the treatment with pegylated interferon was effective. ECD was a possible immune-related disorder concluding from the IgG4 immunohistochemistry results. We summarized the pathological manifestations for ECD and its differential diagnosis from Langerhans cell histiocytosis (LCH) and Rosai-Dorfman disease (RDD). ECD should be considered by both pathologists and clinicians in the differential diagnosis when central diabetes insipidus is accompanied with multi-organ involvement, especially skeletal system involvement, or recurrent fever.
Learning Points:
ECD should be considered when central diabetes insipidus is accompanied with multisystem involvement, especially symmetric/asymmetric bone lesions, or recurrent fever.PET/CT scanning was helpful for locating pituitary lesion, discovering multiple system involvement and indicating the biopsy sites.Conducting proper immunohistochemistry stains was important for diagnosing ECD. ECD might be correlated with immune disorder.
