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PubMed This is a summary of 23 peer-reviewed journal articles Updated
Endocrinology

Symptoms, Complications & Warning Signs of ECD

At a Glance

Erdheim-Chester disease can affect bones and many organs, so symptoms vary from person to person. Deep aching pain in both legs is common, while sudden breathing, chest, brain or nerve, kidney, or vision changes may signal a life-threatening complication requiring emergency care.

Erdheim-Chester Disease (ECD) is often called a “multisystem” condition because it can affect almost any part of the body [1]. Because the abnormal cells (histiocytes) accumulate or infiltrate tissues in different areas, two people with ECD may have very different symptoms [2]. Note that not every abnormality you experience is necessarily caused by the disease.

Common Symptoms and “Silent” Findings

For many patients, the first sign of ECD is a deep, aching pain in the legs [3]. This is because the disease most commonly affects the long bones, such as the femur (thigh bone) and tibia (shin bone) [4].

  • Symmetric Bone Pain: This pain typically occurs on both sides of the body simultaneously [3]. On an X-ray or bone scan, doctors often see osteosclerosis—a thickening or hardening of the bone—in the areas near the joints [4].
  • The “Hairy Kidney”: One of the most unique signs of ECD is seen on CT scans of the abdomen. Histiocytes can wrap around the kidneys and the ureters (the tubes that carry urine to the bladder), creating a fuzzy appearance that radiologists call a “hairy kidney” [5]. While this often doesn’t cause pain, it can eventually squeeze the ureters and affect how well your kidneys work [6].
  • Constitutional Symptoms: Like many chronic inflammatory conditions, ECD can cause general “whole-body” symptoms including significant fatigue, unexplained fevers, and unintended weight loss [7][8].

Neurologic and Hormonal Changes

When ECD affects the brain or central nervous system (CNS), it can cause symptoms that significantly impact your daily life.

  • Balance and Coordination: Infiltration of the cerebellum (the part of the brain that controls movement) can lead to ataxia, which feels like being unsteady on your feet or “clumsy” [9].
  • Diabetes Insipidus: This is not the same as “sugar” diabetes. It occurs when the disease affects the pituitary gland, which controls how your body balances fluids [10]. The main signs are extreme thirst and the need to urinate very frequently, often every hour or two, including throughout the night [9]. If you have these symptoms, you will need a practical plan with your endocrinologist. This includes monitoring your blood sodium, access to fluids, a medical-alert bracelet, and knowing what to do if you become confused or cannot keep fluids down.

Cardiovascular and Orbital Involvement

  • Heart and Vessels: Histiocytes can build up around the heart (pericardium) or the aorta (the body’s main artery) [11]. This may cause shortness of breath or “heaviness” in the chest, though it is sometimes only found through specialized heart scans [5].
  • The Eyes: ECD can settle in the orbit (the eye socket) behind the eye. This can cause proptosis (bulging of the eyes) or double vision [12][13]. You may also notice xanthelasmas, which are painless, yellowish raised patches on the eyelids [12].

Emergency “Red Flag” Symptoms

While ECD is often a slow-moving disease, certain complications require immediate medical evaluation. Do not wait for a scheduled appointment. Call emergency services or go to an emergency department immediately if you experience any of the following:

  1. Cardiac Tamponade or Heart Emergency: This happens if fluid builds up too quickly around the heart, preventing it from beating properly, or if the disease causes acute rhythm issues [14].
    • Warning Signs: Sudden, severe shortness of breath; feeling faint or lightheaded; sudden chest pressure; or a rapid, pounding heartbeat [14][8].
  2. Spinal Cord Compression: If histiocyte masses grow inside the spinal canal, they can press on the nerves [15].
    • Warning Signs: New or sudden weakness in your legs; a sudden loss of bowel or bladder control; or a sudden loss of sensation [16][17].
  3. Acute Kidney Failure: If the “hairy kidney” infiltration severely blocks the flow of urine [18].
    • Warning Signs: A sudden, dramatic decrease in how much you urinate; swelling in your legs and ankles; or new, severe nausea and confusion [18][19].
  4. Sudden Vision Loss: Masses behind the eye can sometimes press on the optic nerve [13].
    • Warning Signs: Sudden blurring, “curtain” falling over your vision, or loss of sight in one or both eyes [20].
  5. Neurologic Crisis: Severe infiltration in the brainstem can be life-threatening [21].
    • Warning Signs: Sudden difficulty swallowing, trouble breathing, or significant new confusion and slurred speech [22][23].

Common questions in this guide

What symptoms commonly appear first with Erdheim-Chester disease?
A deep, aching pain in both legs is a common first symptom because ECD often affects the long bones near the joints. Fatigue, unexplained fever, and unintentional weight loss can also occur, but symptoms differ depending on which organs are involved.
What does a “hairy kidney” mean in ECD?
A “hairy kidney” is a CT appearance caused when ECD cells wrap around the kidneys and the tubes that carry urine to the bladder. It may cause no pain, but it can narrow the tubes and reduce kidney function, so your clinician may check for blockage.
Could excessive thirst and urination be related to ECD?
Yes. If ECD affects the pituitary gland, it can cause diabetes insipidus, a fluid-balance problem that leads to intense thirst and frequent urination, including at night. Ask your endocrinologist whether you need evaluation and a plan for fluids and blood-sodium monitoring.
How can ECD affect the brain, heart, and eyes?
Brain involvement can cause unsteadiness or poor coordination, while involvement around the heart or aorta may cause shortness of breath or chest heaviness. ECD in the eye socket can cause bulging eyes, double vision, or yellow patches on the eyelids. Some heart or kidney findings may be discovered on scans before they cause symptoms.
Which ECD symptoms require emergency medical attention?
Call emergency services for sudden severe shortness of breath, chest pressure, faintness, or a racing heartbeat. Sudden leg weakness, loss of bowel or bladder control, a major drop in urine, sudden vision loss, or new trouble swallowing, breathing, confusion, or slurred speech also require immediate evaluation.
What should I ask my doctor about organ involvement in ECD?
Ask which organs are involved on your scans and whether your kidneys, heart, brain, spine, and eyes need targeted monitoring. Depending on your symptoms, your team may discuss cardiac testing, brain or spine MRI, an evaluation for diabetes insipidus, or an ophthalmology visit.

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References

References (23)
  1. 1

    The Mayo Clinic Histiocytosis Working Group Consensus Statement for the Diagnosis and Evaluation of Adult Patients With Histiocytic Neoplasms: Erdheim-Chester Disease, Langerhans Cell Histiocytosis, and Rosai-Dorfman Disease.

    Goyal G, Young JR, Koster MJ, et al.

    Mayo Clinic proceedings 2019; (94(10)):2054-2071 doi:10.1016/j.mayocp.2019.02.023.

    PMID: 31472931
  2. 2

    Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era.

    Goyal G, Heaney ML, Collin M, et al.

    Blood 2020; (135(22)):1929-1945 doi:10.1182/blood.2019003507.

    PMID: 32187362
  3. 3

    Erdheim-Chester disease: An elusive diagnosis in a 50-year-old Ethiopian man presenting with diffuse sclerotic bone lesion.

    Usmael SA, Gebrehiywot AA, Bekele AL, et al.

    Clinical case reports 2024; (12(9)):e9447 doi:10.1002/ccr3.9447.

    PMID: 39301096
  4. 4

    Erdheim-Chester disease: Typical radiologic findings of a multisystemic disease.

    Peixoto A, Martins G, Leitão J

    Radiology case reports 2022; (17(12)):4859-4867 doi:10.1016/j.radcr.2022.08.097.

    PMID: 36263330
  5. 5

    Cardiovascular manifestations of Erdheim-Chester disease: A narrative review with two cases.

    Wong A, Sharma A, Ramcharitar R

    Vascular medicine (London, England) 2024; (29(3)):313-319 doi:10.1177/1358863X241228271.

    PMID: 38469821
  6. 6

    Erdheim Chester disease with appendicular skeletal, renal and pleural involvement responding to Zelboraf (BRAF inhibitor) treatment: case report.

    Borys D, Nystrom L, Song A, Lomasney LM

    Skeletal radiology 2016; (45(10)):1397-402 doi:10.1007/s00256-016-2431-6.

    PMID: 27423231
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    Pulmonary histiocytosis: beyond Langerhans cell histiocytosis related to smoking.

    Gallego CT, Bueno J, Cruces E, et al.

    Radiologia 2019; (61(3)):215-224 doi:10.1016/j.rx.2018.11.003.

    PMID: 30686482
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    Erdheim-Chester Disease: A Rare Clinical Entity.

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    European journal of case reports in internal medicine 2020; (7(9)):001630 doi:10.12890/2020_001630.

    PMID: 32908822
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    Neurological manifestations of Erdheim-Chester Disease.

    Boyd LC, O'Brien KJ, Ozkaya N, et al.

    Annals of clinical and translational neurology 2020; (7(4)):497-506 doi:10.1002/acn3.51014.

    PMID: 32227455
  10. 10

    Central nervous system involvement in Erdheim-Chester disease: An observational cohort study.

    Cohen Aubart F, Idbaih A, Galanaud D, et al.

    Neurology 2020; (95(20)):e2746-e2754 doi:10.1212/WNL.0000000000010748.

    PMID: 32887776
  11. 11

    Cardiovascular manifestations of Erdheim-Chester disease.

    Ghotra AS, Thompson K, Lopez-Mattei J, et al.

    Echocardiography (Mount Kisco, N.Y.) 2019; (36(2)):229-236 doi:10.1111/echo.14231.

    PMID: 30569522
  12. 12

    Erdheim-Chester disease: a comprehensive review from the ophthalmologic perspective.

    Kanakis M, Petrou P, Lourida G, Georgalas I

    Survey of ophthalmology 2022; (67(2)):388-410 doi:10.1016/j.survophthal.2021.05.013.

    PMID: 34081930
  13. 13

    Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review.

    Merritt H, Pfeiffer ML, Richani K, Phillips ME

    Orbit (Amsterdam, Netherlands) 2016; (35(4)):221-6 doi:10.1080/01676830.2016.1176211.

    PMID: 27322549
  14. 14

    A cytologic diagnosis of BRAFV600E Erdheim-Chester disease on pericardial fluid.

    Chasseur P, Kyriakopoulou M, Vokaer B, et al.

    Acta clinica Belgica 2017; (72(5)):369-371 doi:10.1080/17843286.2017.1290861.

    PMID: 28222655
  15. 15

    Epidural spinal involvement of Erdheim-Chester disease causing myelopathy.

    Hwang BY, Liu A, Kern J, et al.

    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2015; (22(9)):1532-6.

    PMID: 26119978
  16. 16

    Erdheim-Chester disease mimicking lumbar nerve schwannoma: case report and literature review.

    Huang Z, Li S, Hong J, et al.

    Spinal cord series and cases 2019; (5()):90 doi:10.1038/s41394-019-0234-4.

    PMID: 31700688
  17. 17

    Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report.

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    BMC research notes 2015; (8()):171 doi:10.1186/s13104-015-1135-7.

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  18. 18

    Rare case of acute renal failure secondary to Erdheim-Chester disease.

    Makary J, Rathore P

    Urology case reports 2022; (43()):102062 doi:10.1016/j.eucr.2022.102062.

    PMID: 35368978
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    Bilateral Renal Colic as an Initial Presentation of Erdheim-Chester Disease.

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    Case reports in urology 2019; (2019()):4670376 doi:10.1155/2019/4670376.

    PMID: 31976119
  20. 20

    Erdheim-Chester Disease Presenting as Optic Neuritis: A Case Report and Review of the Literature.

    Khan RS, Cannon P, Stylianides A

    Ophthalmic plastic and reconstructive surgery 2026; doi:10.1097/IOP.0000000000003252.

    PMID: 42489293
  21. 21

    Complete remission of critical neurohistiocytosis by vemurafenib.

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  22. 22

    Intracranial mass lesions and skin discoloration in the armpits as unusual clues to Erdheim-Chester disease: a case report.

    Rodrigues PGB, Pereira IS, Lima Filho VB, et al.

    BMC neurology 2021; (21(1)):81 doi:10.1186/s12883-021-02107-w.

    PMID: 33602153
  23. 23

    Craniospinal irradiation for respiratory failure secondary to central nervous system Erdheim-Chester disease.

    Prasad RN, Kobalka PJ, Perlow HK, et al.

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    PMID: 35796119

This page explains ECD symptoms and warning signs for informational purposes only and does not constitute medical advice. Seek emergency care for sudden breathing, chest, neurologic, kidney, or vision changes, and discuss ongoing symptoms with your ECD care team.

Guide contents Erdheim-Chester disease
Patient Resources Research & Literature
01 Understanding Your Diagnosis 03 Diagnosis, Pathology & Genetics of ECD