Successful treatment of Erdheim-Chester disease, a non–Langerhans-cell histiocytosis, with interferon-α

Blood ◽  
2005 ◽  
Vol 106 (9) ◽  
pp. 2992-2994 ◽  
Author(s):  
Fadi Braiteh ◽  
Cynthia Boxrud ◽  
Bita Esmaeli ◽  
Razelle Kurzrock
Keyword(s):  
Standard Treatment ◽  
Advanced Disease ◽  
Terminal Differentiation ◽  
Bone Lesions ◽  
Interferon Α ◽  
Erdheim Chester Disease ◽  
Multisystem Involvement ◽  
Starting Dose ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Erdheim-Chester disease is a rare non-Langerhans histiocytosis with multisystem involvement. To date, there is no standard treatment for this disorder, and more than half of the patients succumb within 3 years. Because interferon-α promotes the terminal differentiation of histiocytes and dendritic cells, we hypothesized that this molecule would be a useful therapy for Erdheim-Chester disease. We therefore treated 3 patients with advanced disease with interferon-α at a starting dose of 3 to 6 × 106 units, which was later reduced, during maintenance, to 1 × 106 units subcutaneous 3 times per week. Marked improvement was noted in all patients, with substantial retro-orbital disease regression within 1 month. Improvement in bone lesions, pain, diabetes insipidus, and other manifestations was gradual over many months. Responses were durable (3+ to 4.5+ years). Our observations suggest that this well-tolerated therapy has a significant effect on the course and outcome of Erdheim-Chester disease.

Erdheim–Chester disease: Multisystem involvement and management with interferon-α

2010 ◽  
Vol 34 (1) ◽  
pp. e21-e24 ◽  
Author(s):  
Hiroshi I. Suzuki ◽  
Noriko Hosoya ◽  
Kiyoshi Miyagawa ◽  
Satoshi Ota ◽  
Hiroko Nakashima ◽  
...  
Keyword(s):  
Interferon Α ◽  
Erdheim Chester Disease ◽  
Multisystem Involvement ◽  
Erdheim Chester ◽  
Chester Disease

Variability in the efficacy of interferon-α in Erdheim-Chester disease by patient and site of involvement: Results in eight patients

2006 ◽  
Vol 54 (10) ◽  
pp. 3330-3336 ◽  
Author(s):  
Julien Haroche ◽  
Zahir Amoura ◽  
Salim G. Trad ◽  
Bertrand Wechsler ◽  
Philippe Cluzel ◽  
...  
Keyword(s):  
Interferon Α ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Systemic perturbation of cytokine and chemokine networks in Erdheim-Chester disease: a single-center series of 37 patients

Blood ◽  
2011 ◽  
Vol 117 (10) ◽  
pp. 2783-2790 ◽  
Author(s):  
Laurent Arnaud ◽  
Guy Gorochov ◽  
Frédéric Charlotte ◽  
Virginie Lvovschi ◽  
Christophe Parizot ◽  
...  
Keyword(s):  
Interferon Γ ◽  
Interferon Α ◽  
Single Center ◽  
Serum Samples ◽  
Individual Level ◽  
Erdheim Chester Disease ◽  
The Individual ◽  
The Impact ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Immunopathogenesis of Erdheim-Chester disease (ECD), a rare non–Langerhans cell histiocytosis, is poorly known. In previous studies, various cytokines were detected in ECD lesions, presumably orchestrating lesional histiocyte recruitment. Because ECD lesions are frequently associated with systemic symptoms, we postulated that underlying global immune perturbations might also be revealed. We quantitatively analyzed 23 cytokines in serum samples obtained from a large single-center cohort of 37 patients with ECD, and studied the impact of treatment on cytokine production. IL-6, IL-12, interferon-α (IFN-α), and monocyte chemotactic protein-1 (MCP-1) levels were significantly higher in untreated patients than in controls, whereas interferon-γ (IFN-γ) inducible protein 10, IL-12, MCP-1, and IL-1 receptor antagonist were found significantly increased in IFN-α–treated patients. A biomathematical approach was used to rationalize multiparameter data, to generate new hypotheses, and identify global control pathways. Interestingly, cytokine profiles proved to be particularly stable at the individual level, and an “ECD signature” further distinguished patients from controls, based on their production of IFN-α, IL-12, MCP-1, IL-4, and IL-7. Altogether, our data underline the systemic immune Th-1–oriented perturbation associated with this condition and provide clues for the choice of more focused therapeutic agents in this rare disease with noncodified therapeutic management.

Bone lesions in Erdheim-Chester disease

2020 ◽  
Vol 155 (5) ◽  
pp. 233
Author(s):  
Eloi Cañamero ◽  
Ricard Pérez ◽  
Ramiro Álvarez ◽  
Jose Tomás Navarro
Keyword(s):  
Bone Lesions ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Bone Lesions in Erdheim‐Chester Disease

2019 ◽  
Vol 71 (7) ◽  
pp. 1206-1206
Author(s):  
Jean W. Liew ◽  
Gordon Starkebaum
Keyword(s):  
Bone Lesions ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease: a case report with pulmonary, kidney involvement and bone lesions

2009 ◽  
Vol 30 (5) ◽  
pp. 651-654 ◽  
Author(s):  
Aziza Mounach ◽  
Abderrzak Nouijai ◽  
Lahsen Achemlal ◽  
Abdellah El Maghraoui ◽  
Ahmed Bezza
Keyword(s):  
Case Report ◽  
Bone Lesions ◽  
Erdheim Chester Disease ◽  
Kidney Involvement ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease with multisystem involvement in a 4-year-old

2011 ◽  
Vol 42 (5) ◽  
pp. 632-635 ◽  
Author(s):  
Sook Yun Song ◽  
Sun Wha Lee ◽  
Kyung-ha Ryu ◽  
Sun Hee Sung
Keyword(s):  
Erdheim Chester Disease ◽  
Multisystem Involvement ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals Perplexing Polyuria Caused by a Rare Disorder

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A597-A598
Author(s):  
Jennifer Ann Wittwer
Keyword(s):  
Diabetes Insipidus ◽  
Urine Output ◽  
Central Diabetes Insipidus ◽  
Rare Disorder ◽  
Focal Lesion ◽  
Bone Lesions ◽  
Erdheim Chester Disease ◽  
The Right ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Background: Central diabetes insipidus is an uncommon condition characterized by polyuria and polydipsia. In adults, central diabetes insipidus is most commonly caused by a primary brain tumor, followed by idiopathic causes, head trauma, and neurosurgery. The presence of diabetes insipidus is often discovered prior to the underlying culprit and detection may reveal further pituitary dysfunction. Herein an unusual cause of central diabetes insipidus is presented. Case: A 35-year-old male was seen in consultation for polyuria. He initially presented with fevers, cloudy urine, and excess urine output. He indicated frequent water consumption, craving cold water and feeling persistently dehydrated with poor energy levels. During hospitalization, the patient had up to 9 liters of urine output daily, with low urine osmolality and intermittent hypernatremia. As patients’ labs were consistent with central diabetes insipidus a brain MRI was completed and showed a thickened enhancing infundibulum and some fullness of the right pituitary without a focal lesion noted, concerning for autoimmune or inflammatory hypophysitis. Other pituitary axes were evaluated, and patient was noted to have a low morning total testosterone and low IGF-1. Concurrently, the patient was discovered to have multiple bone lesions on an MRI abdomen and pelvis, which prompted a bone scan showing diffuse uptake in osseous structures. A PET scan was then obtained demonstrating mandibular uptake as well as hypermetabolic activity in both adrenal glands, the right iliac bone, bilateral femurs and humeri. Biopsy of the mandibular lesion was performed, and the specimen revealed chronic xanthogranulomatous and lymphocytic inflammation consistent with a diagnosis of Erdheim-Chester disease. The patient was discharged on desmopressin and a biologic agent for treatment of Erdheim-Chester disease. Clinical Lesson: Erdheim-Chester disease is a rare non-Langerhans histiocytic multisystem disorder that often presents with skeletal, neurologic, endocrine, cutaneous, cardiac and renal abnormalities. There is a slight male predominance of the disorder and diagnosis occurs between the 5th and 7th decade of life. Erdheim-Chester disease is a form of histiocytosis with a histologic hallmark of xanthomatous infiltration of tissues by CD68-positive foamy histiocytes. This case reflects the diagnostic delay often associated with the condition. Early identification is essential to organize a multidisciplinary team to ensure accurate diagnosis and to initiate appropriate therapy. Presently interferon-alpha is the first line treatment, but other biologics are often used and provide promising outcomes. The presented case highlights many of the idiosyncrasies associated with this rare disorder and calls attention to the possibility of Erdheim-Chester disease when an initial cause of central diabetes insipidus is not obvious.

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