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Erdheim-Chester Disease

Non-Langerhans Cell Histiocytosis


Presentation

  • Diabetes insipidus and constitutional symptoms, if not present at onset, seemed to only seldom develop. There were differences in ECD presentation and course among different age groups of patients.[doi.org]
  • To present two cases with GH and atypical presentations of Erdheim-Chester disease (ECD) or POEMS syndrome, as well as a retrospective monocentric study of histologically-confirmed GH.[ncbi.nlm.nih.gov]
  • We present a case of ECD of supratentorial intra-axial origin and discuss the clinical presentation, diagnosis and management strategies.[ncbi.nlm.nih.gov]
  • Case report A 52-year-old male presented with 2 years of progressive spasticity, dysarthria, and gait instability.[ncbi.nlm.nih.gov]
  • We report a case of ECD presenting as recurrent pericardial effusion along with pericardial tamponade.[ncbi.nlm.nih.gov]
Fatigue
  • A 19-year-old woman presented with orthopnea, severe fatigue, bilateral exophthalmos, and gradual loss of vision. She had anemia and mild leucocytosis related to chronic illness.[ncbi.nlm.nih.gov]
  • Most patients have at least skeletal involvement with bone pain as well as fatigue. Other common manifestations include diabetes insipidus, cardiac, periaortic, or retro-orbital infiltration/fibrosis, kidney impairment, xanthelasmas, among others.[ncbi.nlm.nih.gov]
  • The initial therapeutic dose of 3 to 6 10 6 units subcutaneous 3 times per week was reduced to 1 10 6 units 3 times per week because of fatigue.[doi.org]
  • […] urination Pain in the bones Pain in the chest Chronic cough Sinus discharge Cardiac failure Kidney disease Enlarged spleen Enlarged liver Bone lesions Diabetes insipidus Lesions in the visceral organs Night sweats Aching of the muscles and/or joints Fatigue[disability-benefits-help.org]
Weakness
  • A 50-year-old man with progressive edema in bilateral lower extremities, numbness, weakness, and muscle atrophy of upper limb for 2 years had been misdiagnosed of neuritis or cervical spondylosis until he presented bone pain.[ncbi.nlm.nih.gov]
  • Cardiac MRI Unit, University of Florida History: 41 year old black female admitted for chest pain, malaise, weakness and increasing peripheral edema. Tibial biopsy had demonstrated typical findings of Erdheim-Chester disease (ECD) 8 years earlier.[scmr.org]
  • CD1a(-) histiocytes are identified within a biopsy specimen Clinically, patients may present with bone pain, diabetes insipidus, exophthalmos, neurological signs, and xanthomas, as well as non-specific general symptoms such as fever, weight loss, and weakness[austinpublishinggroup.com]
  • Symptoms of ECD may include: • Bone pain in the long bones of the arms and legs; • Weight loss; • Night sweats; • Muscle and joint aches, weakness and fatigue; • Difficulty speaking; • Kidney problems; • Soft tissue masses or lesions on the body; • Bulging[secure.ssa.gov]
  • These may include any or all of the following physical findings: Bone pain, particularly in the legs and arms Muscle and joint aches and pains Weight loss Fatigue and weakness Compromised organ function, which may include kidney issues, breathing difficulty[disabilitybenefitscenter.org]
Orthopnea
  • A 19-year-old woman presented with orthopnea, severe fatigue, bilateral exophthalmos, and gradual loss of vision. She had anemia and mild leucocytosis related to chronic illness.[ncbi.nlm.nih.gov]
Trismus
  • On physical examination, he had trismus and diplopia. On neuroimaging, the tumour invaded the central nervous system affecting the right temporal lobe and orbit, and the sellar region.[ncbi.nlm.nih.gov]
Myalgia
  • […] found to be more effective in sustaining response in the treatment of hepatitis C at 135 to 185 μg/wk compared with IFN-α 9 mIU/wk. 63 IFN-α and PEG-IFN-α have several potential toxicities, including constitutional (fever, fatigue, flu-like symptoms, myalgias[doi.org]
  • Among the adverse effects of interferon-α are asthenia, myalgia, pruritus, thrombocytopenia and depression [ 92 ]. The efficacy of interferon-α varies in concordance with the different sites of disease involvement.[doi.org]
Arthralgia
  • Common side effects include injection site reactions, headache, arthralgias, and nasopharyngitis.[doi.org]
  • Three patients also developed arthralgias, usually after 6 months of treatment. Keratosis pilaris, xerosis, and photosensitivity were dependent of dosage and improved with dosage reduction (first four patients).[doi.org]
Facial Mass
  • Cerebral magnetic resonance imaging disclosed a voluminous facial mass that involved... FULL TEXT[doi.org]
Ataxia
  • Case 1 was a 47-year-old man with ataxia, dysarthria, and intermittent ophthalmoplegia whose cerebellar biopsy had shown only profuse, nonspecific Rosenthal fiber-rich piloid gliosis; ECD was diagnosed only at autopsy.[ncbi.nlm.nih.gov]
  • In the TV show House, Season 2 episode 17, "All In", the final diagnosis of a 6-year-old boy who presents with bloody diarrhea and ataxia is Erdheim–Chester disease. 01067 at CHORUS[en.wikipedia.org]
  • It next causes neurological damage, leading to ataxia. Next, the kidney and liver fail. Death generally occurs within 12 hours of the onset of the first symptoms. However, if diagnosed quickly, the disease can be treated and reversed.[house.wikia.com]
  • Prominent signs and symptoms were fever (seven), polyuria and polydipsia (six), ataxia and dysarthria (four), bone pain (four), exophthalmos (three), renovascular hypertension (one) and dyspnea (one).[ncbi.nlm.nih.gov]
  • RESULTS: There were seven males and three females; mean age at clinical onset was 49.6 years (range 38-59); cerebellar ataxia with or without other neurological symptoms was the only or the main clinical manifestation; diabetes insipidus was present in[ncbi.nlm.nih.gov]
Dysarthria
  • Four years later, he developed movement disorders with dysarthria and cognitive impairment.[ncbi.nlm.nih.gov]
  • Case 1 was a 47-year-old man with ataxia, dysarthria, and intermittent ophthalmoplegia whose cerebellar biopsy had shown only profuse, nonspecific Rosenthal fiber-rich piloid gliosis; ECD was diagnosed only at autopsy.[ncbi.nlm.nih.gov]
  • Case report A 52-year-old male presented with 2 years of progressive spasticity, dysarthria, and gait instability.[ncbi.nlm.nih.gov]
  • Prominent signs and symptoms were fever (seven), polyuria and polydipsia (six), ataxia and dysarthria (four), bone pain (four), exophthalmos (three), renovascular hypertension (one) and dyspnea (one).[ncbi.nlm.nih.gov]
  • However, such abnormalities often include impaired muscular coordination (ataxia); an abnormal staggering manner of walking (gait); slurred speech (dysarthria); and/or involuntary, rhythmic, rapid eye movements (nystagmus).[rarediseases.org]
Cerebellar Ataxia
  • RESULTS: There were seven males and three females; mean age at clinical onset was 49.6 years (range 38-59); cerebellar ataxia with or without other neurological symptoms was the only or the main clinical manifestation; diabetes insipidus was present in[ncbi.nlm.nih.gov]
  • These three patients were found to have cerebellar ataxia at presentation. Figure 3a: Axial images in 44-year-old man with cerebellar ataxia.[doi.org]
  • These manifestations, by order of frequency, were diabetes insipidus, exophthalmos, cerebellar ataxia, panhypopituitarism and papilledema [ 10 ].[doi.org]
Tremor
  • Initially, he was diagnosed with Parkinson's disease at an outside hospital, based on tremor, rigidity, and gait instability; however, he failed to improve with a trial of levodopa.[ncbi.nlm.nih.gov]
Trigeminal Neuralgia
  • He referred hyporexia, weight loss and right trigeminal neuralgia. On physical examination, he had trismus and diplopia.[ncbi.nlm.nih.gov]

Workup

  • A BRAF(V600E) mutation in a non-LCH histiocytic lesion with a xanthogranuloma phenotype (CD163/CD68/CD14/fascin/Factor 13a) should prompt an Erdheim-Chester disease workup.[ncbi.nlm.nih.gov]
  • This disease is sometimes mistaken for Langerhans cell histiocytosis, and a thorough workup including biopsy is necessary to tell the difference between the two diseases.[histio.org]
Normocytic Normochromic Anemia
  • Physical examination and laboratory studies were notable for lower extremity pain and swelling, nodular lesions on the skin, and normocytic, normochromic anemia.[ncbi.nlm.nih.gov]
Colitis
  • Endoscopy showed segmental colitis and pathology revealed infiltration of large foamy histiocytes CD3-/CD20-/CD68 /CD163 /S100- consistent with ECD.[ncbi.nlm.nih.gov]

Treatment

  • Treatment was generally well tolerated, and side effects remained limited to fever following injections. Treatment was discontinued in 1 patient, because of severe depression.[ncbi.nlm.nih.gov]
  • For patient 1, analysis was performed before and 3 months after the end of anakinra treatment, and for patient 2, analysis was conducted before and after 11 months of ongoing treatment. Patient 3 had no treatment.[doi.org]
  • For the first patient treated, the PET response increased between months 1 and 4 of treatment. The treatment remained effective after 4 months of follow-up although persistent disease activity was still observed.[ncbi.nlm.nih.gov]
  • Cladribine was used as the first-line treatment in 9 patients and as later-line treatment in the remaining 12 patients. The median number of cycles of cladribine administered was 2.5 (range, 1-6).[ncbi.nlm.nih.gov]
  • Importantly, gastrointestinal ECD might exhibit poor response to steroid treatment and other potential treatments including chemotherapy, and biologic treatments targeting IL-1 and TNF-alpha signalling should be considered.[ncbi.nlm.nih.gov]

Prognosis

  • Erdheim–Chester disease is a non-Langerhans form of histiocytosis with a grim prognosis, especially in cases of extraosseous involvement.[doi.org]
  • Erdheim-Chester disease with orbital involvement is a devastating disease with a poor prognosis.[ncbi.nlm.nih.gov]
  • This endeavor is of major importance to determine early diagnosis and treatment, because ECD often shows a poor prognosis compared with its differential diagnoses.[ncbi.nlm.nih.gov]
  • Surgical orbital decompression was performed and medical therapy with interferon-α (INF-α) was started.Among extraskeletal manifestations of ECD, cardiovascular involvement is often asymptomatic and thus under-diagnosed but linked to poor prognosis.[ncbi.nlm.nih.gov]
  • ECD features heterogeneous systemic manifestations, and the general prognosis remains poor despite various treatment options.[ncbi.nlm.nih.gov]

Etiology

  • Erdheim-Chester disease is a rare non-Langerhans-cell histiocytosis of unknown etiology with multi-organ involvement. A 19-year-old woman presented with orthopnea, severe fatigue, bilateral exophthalmos, and gradual loss of vision.[ncbi.nlm.nih.gov]
  • Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of unknown etiology that affects multiple organs. We report 6 cases of ECD with neurological involvement and neuroradiological abnormalities on brain MRI.[ncbi.nlm.nih.gov]
  • Despite symptomatic and etiologic treatment, death occurred within twelve months.[ncbi.nlm.nih.gov]
  • Abstract Erdheim-Chester disease (ECD) is a rare inflammatory disorder of unknown etiology, characterised by diffuse organ infiltration of CD68-positive, CD1a-negative, S100-low/negative foamy histiocytes.[ncbi.nlm.nih.gov]
  • A 68-year old woman presented with persistent fever without infectious etiology and hematochezia. Endoscopy showed segmental colitis and pathology revealed infiltration of large foamy histiocytes CD3-/CD20-/CD68 /CD163 /S100- consistent with ECD.[ncbi.nlm.nih.gov]

Epidemiology

  • Clinical and epidemiological research The multifaceted clinical presentations and manifestations of Erdheim–Chester disease: comprehensive review of the literature and of 10 new cases Giulio Cavalli 1, Barbara Guglielmi 1, Alvise Berti 1, Corrado Campochiaro[doi.org]
  • Patients treated with and without interferon had similar epidemiologic and clinical characteristics, suggesting that these parameters cannot account for the differences observed in survival.[doi.org]
  • Furthermore, the relationship between ECD and LCH is yet to be understood, as syndromes of ECD-LCH overlap have been clearly documented and occur in as many as 12% of ECD cases. 15 - 19 Epidemiology.[doi.org]
  • Epidemiology Most of the 101 patients followed at our center are men (75 % men and 25 % women), as has been the case throughout our experience of this disease [ 4 ••].[doi.org]
  • Keywords Erdheim Chester disease Interferon alpha Interleukin-1 BRAF Introduction History, Classification, Epidemiology, Etiology and Prognosis Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis originally described as[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • Its specific blockade using anakinra thereby opens new pathophysiology and therapeutic perspectives in ECD.[ncbi.nlm.nih.gov]
  • The pathophysiological processes explaining stroke in this disease are uncertain, but periarterial stenosis of cerebral arteries may be a mechanism.[ncbi.nlm.nih.gov]
  • These recommendations were outlined at the First International Medical Symposium for ECD, comprised of a comprehensive group of international academicians with expertise in the pathophysiology and therapy of ECD.[ncbi.nlm.nih.gov]
  • Protocol 11-HG-0207, "Clinical and Pathophysiological Investigations into Erdheim-Chester Disease," is a natural history study designed to better understand and describe the natural history, pathophysiology, and response to therapy, of this devastating[clinicaltrials.gov]

Prevention

  • Prompt diagnosis is imperative for the appropriate treatment to prevent hemodynamic compromise due to distributive shock or gastrointestinal bleeding.[ncbi.nlm.nih.gov]
  • ., prednisone); certain chemotherapeutic drugs that may control or prevent the proliferation of abnormal cells (e.g., vinblastine); use of high-energy rays that may preferentially destroy or injure rapidly proliferating cells (radiation therapy); immunotherapy[rarediseases.org]
  • For tumors larger than 20 mm (about an inch), adjuvant chemotherapy may be used to prevent the cancer’s return. Cancers of the conjunctiva Squamous cell carcinoma: This is the most common type of conjunctival eye cancer.[mdanderson.org]
  • A Priority Review designation is granted to medicines that the FDA has determined to have the potential to provide significant improvements in the treatment, prevention or diagnosis of a disease.[businesswire.com]

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