Hematology

Building Your Care Team & Baseline Testing

At a Glance

Erdheim-Chester disease can affect several organs without early symptoms, so baseline care should include an experienced hematologist-oncologist, coordinated specialists, laboratory tests, and individualized imaging to map disease and protect organ function.

Because Erdheim-Chester Disease (ECD) is a multisystem condition that can affect almost any organ, managing it requires more than just one doctor. The international consensus for treating ECD emphasizes a multidisciplinary care team—a group of specialists from different fields who work together to ensure no part of your body is overlooked ^[1]^[2].

Building Your Care Team

The “quarterback” (lead coordinator) of your team is typically a hematologist-oncologist who has specific experience with rare histiocytic neoplasms ^[1]. However, because the disease can be “silent” in its early stages, you may need several other specialists to monitor specific organ systems:

Cardiologist: To monitor for histiocyte accumulation around the heart or large blood vessels ^[3].
Nephrologist or Urologist: To manage “hairy kidney” involvement and ensure your kidneys are not being compressed ^[4]^[5].
Neurologist: To evaluate balance, coordination, and any changes in the brain or spinal cord ^[6]^[7].
Endocrinologist: To screen for hormonal issues, such as diabetes insipidus (excessive thirst/urination) or pituitary gland dysfunction ^[8].
Radiologist & Pathologist: Experts who specialize in reading complex scans and biopsies specifically for rare blood disorders ^[9]^[10].

The Importance of Baseline Assessment

“Staging” is the process of mapping out exactly where ECD is active in your body. In many conditions, doctors only scan the areas where you feel pain. In ECD, this approach is not enough because the disease can settle in critical areas without causing any symptoms until a crisis occurs ^[11]^[4].

Comprehensive baseline assessment is essential to identify these “hidden” areas before they cause permanent damage ^[12].

Baseline Laboratory and Organ Tests

Before discussing imaging, your doctor will establish your baseline organ function with comprehensive tests:

Blood and Urine: Complete blood count (CBC), comprehensive metabolic and kidney function testing, urinalysis, and inflammatory markers.
Endocrine Evaluation: Testing sodium and osmolality to screen for diabetes insipidus.
Organ Health Check: An electrocardiogram (ECG) for the heart, plus eye and skin assessments if you are preparing for targeted therapies. Pulmonary testing is also ordered if lung involvement is suspected.

Common Baseline Imaging

According to international guidelines, doctors often consider a combination of the following tests to create a complete map of your disease ^[1]^[9]. The exact combination and timing are individualized to you:

Whole-Body PET/CT: This scan uses a small amount of radioactive sugar to find “hot spots” of metabolic activity ^[13]. It is often used to map the overall extent of the disease and can find lesions that a standard CT might miss ^[14]^[15].
Brain and Spine MRI: A brain MRI is commonly considered because ECD can involve the central nervous system (CNS) without causing immediate symptoms ^[8]^[6]. A spine MRI is generally driven by symptoms, neurologic findings, or known spinal disease. Finding CNS involvement is critical because it often changes the choice of treatment ^[12].
Cardiac MRI or Echocardiogram: ECD can “coat” the heart (pericardial infiltration) or the aorta ^[3]. Cardiac scans provide a detailed look at whether the disease is affecting the heart’s structure or its ability to pump blood ^[11]^[16].
Abdominal Imaging (CT or MRI): This looks for the characteristic “hairy kidney” appearance. It is vital for checking if the disease is squeezing the ureters (the tubes that drain the kidneys), which can lead to silent kidney failure ^[17]^[4].
Bone Scans: Specialized bone imaging (like a Technetium-99m scan) may be used to demonstrate the symmetric involvement of the long bones, which is a hallmark of the disease ^[18]^[19].

Screening for “Silent” Disease

You may wonder why you need a heart or brain scan if you feel fine. In ECD, “feeling fine” does not always mean the disease is inactive ^[11]. For example:

Cardiac involvement can be found in up to 40-70% of patients, yet many have no chest pain or shortness of breath initially ^[3]^[11].
Kidney involvement is often asymptomatic until the blockage is severe ^[4].

By identifying these areas at baseline, your care team can tailor your treatment to protect your most vital organs from the start ^[12]^[20].

Common questions in this guide

Who usually coordinates care for Erdheim-Chester disease?

A hematologist-oncologist with experience in rare histiocytic neoplasms often coordinates the overall plan. They may work with cardiology, nephrology or urology, neurology, endocrinology, radiology, and pathology depending on which organs need evaluation.

What baseline blood and organ tests might I need for ECD?

Doctors may check a complete blood count, metabolic and kidney function, urine, inflammation markers, and blood sodium and osmolality, which can help screen for diabetes insipidus. They may also use an ECG, a heart test, and arrange eye, skin, or lung testing when symptoms, suspected involvement, or planned targeted treatment make those evaluations relevant.

Which scans can map ECD throughout the body?

ECD mapping may include a whole-body PET/CT, brain MRI, and imaging of the heart, abdomen, and long bones. Spine MRI is usually guided by symptoms, neurological findings, or known spinal disease, and the exact combination depends on your situation.

Why do I need heart or brain imaging if I feel well?

ECD can involve important organs before it causes noticeable symptoms. Baseline heart, brain, and other imaging can find hidden involvement early, establish a comparison for follow-up, and help your team choose treatment that protects organ function.

What does kidney involvement look for on ECD scans?

Abdominal CT or MRI can show the characteristic “hairy kidney” pattern and whether tissue is compressing the ureters, the tubes that drain urine from the kidneys. This blockage may be quiet at first, so finding it early helps the care team protect kidney function.

How often will my ECD scans be repeated?

There is no single schedule for everyone. Your team may adjust repeat imaging based on your symptoms, organ involvement, treatment, and prior results; ask which scans will be repeated and what changes should prompt an earlier evaluation.

Get notified when new evidence is published on Erdheim-Chester disease.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.

References (20)

1
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
2
Erdheim-Chester disease: a rapidly evolving disease model.
Pegoraro F, Papo M, Maniscalco V, et al.
Leukemia 2020; (34(11)):2840-2857 doi:10.1038/s41375-020-0944-4.
PMID: 32591646
3
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
4
Bilateral Renal Colic as an Initial Presentation of Erdheim-Chester Disease.
Sarkis J, Haddad F, Nasr S, et al.
Case reports in urology 2019; (2019()):4670376 doi:10.1155/2019/4670376.
PMID: 31976119
5
A long-term survival case of Erdheim-Chester disease on maintenance hemodialysis.
Konishi R, Morinishi T, Takaori K, et al.
CEN case reports 2022; (11(3)):289-294 doi:10.1007/s13730-021-00680-0.
PMID: 34978674
6
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
7
A Patient with Erdheim-Chester Disease Limited to Central Nervous System.
Gupta RK, Haque A, Reddy TA, Pérez CA
Neurology international 2022; (14(3)):678-682 doi:10.3390/neurolint14030056.
PMID: 36135991
8
Neuroradiologic manifestations of Erdheim-Chester disease.
Parks NE, Goyal G, Go RS, et al.
Neurology. Clinical practice 2018; (8(1)):15-20 doi:10.1212/CPJ.0000000000000422.
PMID: 29517068
9
Role of 18 F-FDG PET/CT in Erdheim-Chester Disease in the Era of Multimodality Imaging.
Jois B, Ananthasivan R, Rawat PRVS, Rakshit S
The Indian journal of radiology & imaging 2021; (31(3)):729-734 doi:10.1055/s-0041-1736164.
PMID: 34790325
10
The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort.
Ozkaya N, Rosenblum MK, Durham BH, et al.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018; (31(4)):581-597 doi:10.1038/modpathol.2017.160.
PMID: 29192649
11
Cardiovascular Involvement in Erdheim-Chester Disease: A Case Report and Review of the Literature.
Nicolazzi MA, Carnicelli A, Fuorlo M, et al.
Medicine 2015; (94(43)):e1365 doi:10.1097/MD.0000000000001365.
PMID: 26512552
12
Erdheim Chester Disease treated successfully with cladribine.
Azadeh N, Tazelaar HD, Gotway MB, et al.
Respiratory medicine case reports 2016; (18()):37-40 doi:10.1016/j.rmcr.2016.03.008.
PMID: 27144117
13
18F-FDG PET/CT versus anatomic imaging for evaluating disease extent and clinical trial eligibility in Erdheim-Chester disease: results from 50 patients in a registry study.
Kirchner J, Hatzoglou V, Buthorn JB, et al.
European journal of nuclear medicine and molecular imaging 2021; (48(4)):1154-1165 doi:10.1007/s00259-020-05047-8.
PMID: 33057928
14
A new role for fluorine-18-fluorodeoxyglucose positron-emission tomography/computed tomography in Erdheim-Chester disease.
Van Keerberghen CA, Harrouk A, Leone L
World journal of nuclear medicine 2019; (18(2)):201-203 doi:10.4103/wjnm.WJNM_57_18.
PMID: 31040758
15
18F-FDG PET/CT in Erdheim-Chester Disease: Imaging Findings and Potential BRAF Mutation Biomarker.
Young JR, Johnson GB, Murphy RC, et al.
Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2018; (59(5)):774-779 doi:10.2967/jnumed.117.200741.
PMID: 29097410
16
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
17
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation.
Nikpanah M, Kim L, Mirmomen SM, et al.
European radiology 2018; (28(9)):3751-3759 doi:10.1007/s00330-018-5326-1.
PMID: 29556768
18
[Usefulness of nuclear medicine in Erdheim-Chester disease: A Lille experience].
Adens A, Landy P, Terriou L, et al.
La Revue de medecine interne 2017; (38(4)):235-242 doi:10.1016/j.revmed.2016.10.386.
PMID: 28268124
19
Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAFV600E mutation.
Nikpanah M, Dehghani Firouzabadi F, Farhadi F, et al.
Clinical imaging 2024; (106()):110067 doi:10.1016/j.clinimag.2023.110067.
PMID: 38128404
20
Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib.
Huang LC, Topping KL, Gratzinger D, et al.
American journal of ophthalmology case reports 2018; (11()):158-163 doi:10.1016/j.ajoc.2018.07.005.
PMID: 30094395

This page explains care teams and baseline testing for Erdheim-Chester disease for informational purposes only and does not constitute medical advice. Your ECD specialists should choose and interpret tests for your specific situation.