Clinical phenotypes and long-term outcome of kidney involvement in Erdheim-Chester histiocytosis

Chazal, Thibaud; Pegoraro, Francesco; Manari, Gaia; Bettiol, Alessandra; Maniscalco, Valerio; Gelain, Maria Elena; Charlotte, F.; Mazor, Roei David; Renard-Penna, Raphaële; Amoura, Zahir; Cohen‐Aubart, Fleur; Haroche, Julien; Izzedine, Hassan; Vaglio, Augusto

doi:10.1016/j.kint.2022.09.027

Cited by 12 publications

(36 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[13] In fact, 44% of patients with peri-kidney involvement develop CKD III-V stadium according to the CDK-EPI classification at the year follow-up, and conventional therapies still result in the ineffective prevention of CKD progression. Moreover, age > 50 years represents a risk factor for CKD worsening in ECD, [14] and our case report testimonies a 38% reduction rate over 2 years.…”

Section: Retroperitoneal Fibrosissupporting

confidence: 71%

Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature

Gagliardo,

Giammanco,

Vaglio

et al. 2024

Medicine

Self Cite

View full text Add to dashboard Cite

Rationale: Erdheim-Chester disease (ECD) is a rare multisystemic disease characterized by the infiltration of multiple organs by foamy CD68 + CD1a-histiocytes. The genetic background consists of gain-of-function somatic mutations in the mitogen-activated protein kinase pathway. The purpose of the present paper is to make a contribution to the scientific literature on ECD by reporting our experience with a complex clinical case report, along with a concise review of the literature. We discussed the unusual clinical presentation, the complex diagnostic process and the comparison with other published cases. Patient concerns: A 70-year-old man presented with arthralgia due to multiple bone areas of sclerosis, first diagnosed with metastases of a prostatic neoplasm. Sequential thorax-abdomen, femoral and homer contrast-enhanced computed tomography (CT) showed pericardial effusion, pulmonary fibrosis, and perirenal fibrous tissue as “hairy kidneys.” He underwent. Three bone biopsies were unsuccessful to reach diagnosis. Diagnoses: A xanthelasma biopsy showed histopathological signs compatible with ECD; genetic analysis showed the mutation BRAFV600E. Interventions: The patient underwent targeted therapy with vemurafenib (BRAF-inhibitor), discontinued 2 weeks later due to the onset of a diffuse erythematous papular rash on the trunk and limbs. Outcomes: At the 1-year follow-up, there was only progression of chronic kidney disease (CKD). Lessons: The present case report describes how ECD diagnosis could represent a challenge for clinicians, owing to its heterogeneous clinical presentation. Early diagnosis followed by prompt therapy is essential for modifying the natural history of the disease.

show abstract

Section: Retroperitoneal Fibrosissupporting

confidence: 71%

Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature

Gagliardo,

Giammanco,

Vaglio

et al. 2024

Medicine

Self Cite

View full text Add to dashboard Cite

show abstract

“…Of patients with ECD, >30% may present with pseudo ‘RPF,’ which presents as a perirenal mass. This may lead to proximal ureteral obstruction and hydronephrosis, resulting in dysuria and urinary urgency ( 24 ). Retroperitoneal involvement in ECD needs to be differentiated from idiopathic retroperitoneal fibrosis (IRF) and IgG4-related RPF because of the perinephric soft tissue rind manifestations.…”

Section: Discussionmentioning

confidence: 99%

Erdheim‑Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review

Shi,

Sun,

et al. 2024

Exp Ther Med

View full text Add to dashboard Cite

Erdheim-Chester disease (ECD) is a rare tumor of histiocytic origin, characterized by foamy or lipid-laden histiocytes mixed or surrounded by fibrosis that infiltrate multiple organs. Misdiagnosis is common due to the diversity of clinical presentations. The present study reported a case of ECD with the involvements of bone, cardiac, aorta and retroperitoneum. The patient had no obvious clinical symptoms and no noteworthy foamy histiocytes or Touton giant cells were found on pathological examination, delaying the diagnosis. The patient was a young male found to have pericardial effusion on physical examination, and computed tomography (CT) revealed soft tissue infiltrates in the retroperitoneum and around the aorta. A mediastinal biopsy revealed fibrous connective tissue with small-vessel hyperplasia and acute-chronic inflammatory cell infiltration. The initial diagnosis was retroperitoneal fibrosis (RPF), and hormonal and tamoxifen treatments were administered. The patient presented with oliguria, eyelid edema and fever four years later. A repeat CT revealed an increase in the extent of tissue infiltration and pericardial effusion compared with the previous CT. Subsequent cardiac magnetic resonance imaging revealed massive thickening in the form of fibrotic tissue infiltrating the heart and surrounding thoracic and abdominal aorta. Single photon emission CT revealed multiple areas of increased bone metabolism, particularly symmetrical involvement of the long bones of both lower extremities. A biopsy of the perirenal tissue revealed fibrous tissue and a small number of lymphocytes and macrophages [typical foamy histiocytes observed via x200 magnification and hematoxylin-eosin (HE) staining, no presence of xanthogranuloma or Touton giant cells]. After a comprehensive evaluation and ruling out other diseases, the diagnosis of ECD was determined. The prognosis of this disease is poor; early diagnosis is critical and requires accurate judgment by clinicians. Biopsies of all involved sites and refinement of genetic tests to guide treatment, if possible, are both necessary.

show abstract

“…Meanwhile, the outcome of ECD patients is significantly affected by the extent of the disease; therefore, it is important to identify the involved organs. 18 F-FDG PET/CT may help with the diagnosis and is recommended for use in all patients affected by ECD to evaluate disease extent and severity (5). Apart from performing a whole-body scan in 1 examination, 18 F-FDG PET/CT has the advantage that it can collect metabolic and anatomic information at the same time, so it is more suitable than anatomic imaging in the evaluation of ECD patients.…”

mentioning

confidence: 99%

“…18 F-FDG PET/CT may help with the diagnosis and is recommended for use in all patients affected by ECD to evaluate disease extent and severity (5). Apart from performing a whole-body scan in 1 examination, 18 F-FDG PET/CT has the advantage that it can collect metabolic and anatomic information at the same time, so it is more suitable than anatomic imaging in the evaluation of ECD patients. Previous studies have demonstrated the value of 18 F-FDG PET/CT in assessing patients with ECD (6)(7)(8)(9).…”

mentioning

confidence: 99%

“…Apart from performing a whole-body scan in 1 examination, 18 F-FDG PET/CT has the advantage that it can collect metabolic and anatomic information at the same time, so it is more suitable than anatomic imaging in the evaluation of ECD patients. Previous studies have demonstrated the value of 18 F-FDG PET/CT in assessing patients with ECD (6)(7)(8)(9). Kirchner et al used 18 F-FDG PET/CT as well as anatomic imaging to evaluate ECD patients and found that 18 F-FDG PET/CT was better at identifying disease sites and that anatomic imaging provided better anatomic details (6).…”

mentioning

confidence: 99%

See 1 more Smart Citation

Performance of⁶⁸Ga-Labeled Fibroblast Activation Protein Inhibitor PET/CT in Evaluation of Erdheim–Chester Disease: A Comparison with¹⁸F-FDG PET/CT

Yang

Huo

et al. 2023

J Nucl Med

View full text Add to dashboard Cite

Erdheim-Chester disease (ECD) involves multiple organs and tissues and has diverse manifestations, which makes it difficult to distinguish lesions caused by ECD from those caused by other diseases. Variable degrees of fibrosis are present in ECD. Therefore, we conducted a prospective cohort study to explore the ability of 68 Ga fibroblast activation protein inhibitor ( 68 Ga-FAPI) PET/CT to detect lesions in ECD patients. Methods: Fourteen patients diagnosed with ECD, as confirmed by histology, were included in this study. For every patient, 68 Ga-FAPI PET/CT and 18 F-FDG PET/CT were conducted within 1 wk. The positive rate and SUV max of the lesions in the involved organs were compared between the examinations. Results: The most commonly involved organs were bone (100%), heart (57.1%), lung (57.1%), kidney (42.9%), and peritoneum or omentum (35.7%); other common manifestations were intracranial infiltration (50%) and cutaneous infiltration (35.7%). 68 Ga-FAPI PET/CT detected 64 of 67 lesions in 14 patients, whereas 18 F-FDG PET/CT detected 51 of 67 lesions (P 5 0.004). The SUV max for 68 Ga-FAPI PET/CT was significantly higher than the SUV max for 18 F-FDG PET/CT of the heart (4.9 6 2.4 vs. 2.8 6 1.2, respectively;

show abstract

Clinical phenotypes and long-term outcome of kidney involvement in Erdheim-Chester histiocytosis

Cited by 12 publications

References 29 publications

Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature

Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature

Erdheim‑Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review

Performance of⁶⁸Ga-Labeled Fibroblast Activation Protein Inhibitor PET/CT in Evaluation of Erdheim–Chester Disease: A Comparison with¹⁸F-FDG PET/CT

Contact Info

Product

Resources

About

Clinical phenotypes and long-term outcome of kidney involvement in Erdheim-Chester histiocytosis

Cited by 12 publications

References 29 publications

Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature

Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature

Erdheim‑Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review

Performance of68Ga-Labeled Fibroblast Activation Protein Inhibitor PET/CT in Evaluation of Erdheim–Chester Disease: A Comparison with18F-FDG PET/CT

Contact Info

Product

Resources

About

Performance of⁶⁸Ga-Labeled Fibroblast Activation Protein Inhibitor PET/CT in Evaluation of Erdheim–Chester Disease: A Comparison with¹⁸F-FDG PET/CT