National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Sarcoidosis

Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect the organ's structure and function. Overtime, this can lead to permanent scarring or thickening of the organ tissue (also called fibrosis). Although the granulomas can be found in almost any part of the body, they occur most commonly in the lungs and lymph nodes. Signs and symptoms of sarcoidosis vary based on the location of the granulomas and the severity of the condition. The exact cause of sarcoidosis is poorly understood. In many cases, treatment is not necessary and sarcoidosis will resolve on its own. However, therapies such as corticosteroids, immunosuppressants, and antimalarial drugs, are available to control symptoms, prevent complications, and improve outcomes.[1][2][3][4]
Last updated: 4/16/2017
Although many people with sarcoidosis have very few or no symptoms of the condition, others experience severe effects that can interfere with daily life. When present, signs and symptoms vary based on the location of the granulomas and the severity of the disease.[1][4]

At the time of diagnosis, many people affected by sarcoidosis have a classic set of signs described as Lofgren’s Syndrome:[4] Because affected people frequently have lung involvement, other common symptoms include shortness of breath (dyspnea), a cough that won't go away, and chest pain.[1][5][4]

People with sarcoidosis may also experience: [1][5][3][4]
  • Fatigue
  • Weight loss
  • Skin rashes, ulcers or discoloration
  • Enlarged liver or spleen
  • Vision problems, eye dryness or irritation
  • Headaches, seizures, or weakness on one side of the face
  • Aches and pains in the muscles and bones
  • Abnormal heart beats
  • Kidney stones
For more specific information, please visit the Foundation for Sarcoidosis Research's website. They offer an information page entitled "Organs Involved" which outlines the symptoms that may be experienced when certain organ systems are affected by the condition.
Last updated: 4/17/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 82 |
Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Chest pain 0100749
Cough
Coughing
0012735
Dyspnea
Trouble breathing
0002094
Erythema nodosum 0012219
Fatigue
Tired
Tiredness
[ more ] 		0012378
Fever 0001945
Increased T cell count 0100828
Joint swelling 0001386
Leukopenia
Decreased blood leukocyte number
Low white blood cell count
[ more ] 		0001882
Thrombocytopenia
Low platelet count
0001873
Uveitis 0000554
Weight loss 0001824
5%-29% of people have these symptoms
Abnormal cardiac ventricular function 0030872
Abnormal liver parenchyma morphology 0030146
Abnormal reproductive system morphology 0012243
Abnormality of the gastrointestinal tract 0011024
Abnormality of the nasal mucosa
Abnormality of mucosa of nose
Abnormality of mucous membrane of nose
Abnormality of nasal mucous membrane
[ more ] 		0000433
Alopecia
Hair loss
0001596
Blindness 0000618
Bone cyst
Bone cysts
0012062
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Chylothorax 0010310
Dacryocystitis 0000620
Diabetes insipidus 0000873
Emphysema 0002097
Enlarged lacrimal glands
Enlarged tear gland
0007734
Enlargement of parotid gland 0011801
Facial palsy
Bell's palsy
0010628
Glaucoma 0000501
Heart block 0012722
Hepatic failure
Liver failure
0001399
Hepatomegaly
Enlarged liver
0002240
Hypercalcemia
High blood calcium levels
Increased calcium in blood
[ more ] 		0003072
Hypercalciuria
Elevated urine calcium levels
0002150
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypopigmentation of the skin
Patchy lightened skin
0001010
Increased CSF protein 0002922
Keratoconjunctivitis sicca
Dry eyes
0001097
Lymphadenopathy
Swollen lymph nodes
0002716
Maculopapular exanthema 0040186
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Nephrolithiasis
Kidney stones
0000787
Optic neuropathy
Damaged optic nerve
0001138
Parotitis 0011850
Peripheral neuropathy 0009830
Pneumothorax
Collapsed lung
0002107
Portal hypertension 0001409
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Pulmonary fibrosis 0002206
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Scarring 0100699
Skin plaque 0200035
Splenomegaly
Increased spleen size
0001744
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
Tubulointerstitial nephritis 0001970
Upper airway obstruction 0002781
Ventricular tachycardia 0004756
1%-4% of people have these symptoms
Abnormality of the adrenal glands
Adrenal abnormalities
0000834
Eosinophilia
High blood eosinophil count
0001880
Hemolytic anemia 0001878
Hemoptysis
Coughing up blood
0002105
Hyperthyroidism
Overactive thyroid
0000836
Hypothermia
Abnormally low body temperature
0002045
Hypothyroidism
Underactive thyroid
0000821
Percent of people who have these symptoms is not available through HPO
Abnormal salivary gland morphology
Abnormality of the salivary glands
0010286
Abnormality of T cell physiology 0011840
Anorexia 0002039
Arthritis
Joint inflammation
0001369
Autosomal dominant inheritance 0000006
Blurred vision 0000622
Chorioretinitis 0012424
Elevated erythrocyte sedimentation rate
High ESR
0003565
Epiphora
Increased tears
Tearing
Watery eyes
[ more ] 		0009926
Generalized lymphadenopathy
Generalized swelling of lymph nodes
Swollen lymph nodes affecting all regions of the body
[ more ] 		0008940
Increased circulating antibody level 0010702
Inflammation of the large intestine 0002037
Interstitial pulmonary abnormality
Abnormality in area between air sacs in lung
0006530
Iridocyclitis 0001094
Pancytopenia
Low blood cell count
0001876
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] 		0000613
Sporadic
No previous family history
0003745
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Last updated: 7/1/2020
The cause of sarcoidosis is currently unknown. Some scientists believe it is an immune system disorder that occurs in people with a genetic predisposition to the condition. They suspect that in people with a genetic risk for sarcoidosis, exposure to certain triggers in the environment (such as bacteria, viruses and/or chemicals) may cause an overactive or inappropriate immune response. This leads to the development of granulomas in various organs throughout the body and the symptoms associated with the condition. Studies are ongoing to investigate the genetic and environmental components of this disease.[6][3][4]
Last updated: 4/17/2017
In many cases of sarcoidosis, no treatment is necessary and the condition will resolve on its own overtime. However, therapies are available to control symptoms, prevent complications and improve outcomes in affected people. A team of medical specialists can help determine which affected people will benefit from these treatments, based on many factors including:[1][5][7][4]
  • The symptoms present
  • The severity of the symptoms
  • If any vital organs are affected (lungs, eyes, heart, or brain)
  • How the organ is affected
Treatment options for sarcoidosis generally include corticosteroid medications and/or medicines that suppress the immune system. In people with certain symptoms, antimalarial drugs may be recommended, as well.[1][5][7][4]

Prednisone is the medication most commonly used to treat sarcoidosis. It is in a class of drug called corticosteroids. If the condition worsens when taking prednisone or if the side effects of prednisone are severe, a doctor may prescribe other drugs such as methotrexate, azathioprine, and cyclophosphamide.[1][5][7][4]

Last updated: 4/18/2017

Management Guidelines

The long-term outlook (prognosis) for people with sarcoidosis is variable and difficult to predict. In most affected people (approximately 60% of cases), the condition resolves over a period of 2-5 years. The risk of relapse is thought to be low in these cases.[4]

In some people, sarcoidosis can be chronic and progressive (worsening over time).[4] This can lead to scarring of affected organs, eye disease, skin disease, and problems with the nervous system, heart and liver.[6]

Overall, the mortality rate for sarcoidosis is less than 5%.[6][3][4] In the United States, mortality is most commonly due to respiratory failure from severe scarring of lung tissue or heart involvement.[3][4] Complications of therapy are additional causes of morbidity and mortality.[6] Prognosis is worse for African Americans, those with advanced lung disease, and those with heart or nervous system complications.[6]
Last updated: 4/18/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • The Foundation for Sarcoidosis Research has a Physician Directory that may be helpful for finding a sarcoidosis specialist.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The National Heart Lung and Blood Institute (NHLBI) conducted a case-control etiologic study of sarcoidosis (ACCESS) to determine the cause of the condition as well as to examine socioeconomic variables and the clinical course of patients with sarcoidosis.  To learn more about this study, click here.
  • ClinicalTrials.gov lists trials that are related to Sarcoidosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • The Autoimmune Registry supports research for Sarcoidosis by collecting information about patients with this and other autoimmune diseases. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.
  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Sarcoidosis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Sarcoidosis:
    FSR-SARC Patient Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The Assistance Fund provides various services, including education and financial aid, to help patients with a chronic or serious illness cover the cost of FDA-approved medications. Patients must be U.S citizens or permanent residents.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The Foundation for Sarcoidosis Research has information about sarcoidosis to help you learn more about this condition.
  • The MayoClinic.com provides information about Sarcoidosis. Click on the above link to access this information.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Sarcoidosis. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. What Is Sarcoidosis?. National Heart, Lung and Blood Institute. June 14, 2013; http://www.nhlbi.nih.gov/health/health-topics/topics/sarc.
  2. Sarcoidosis. MayoClinic.com. January 22, 2016; http://www.mayoclinic.org/diseases-conditions/sarcoidosis/home/ovc-20177969.
  3. Hadjiliadis D, Zieve D. Sarcoidosis. MedlinePlus. June 22, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000076.htm.
  4. Sarcoidosis. Foundation for Sarcoidosis Research. https://www.stopsarcoidosis.org/what-is-sarcoidosis/. Accessed 4/16/2017.
  5. Sarcoidosis. American Lung Association. 2016; http://www.lung.org/lung-health-and-diseases/lung-disease-lookup/sarcoidosis/.
  6. Kamangar N. Sarcoidosis. Medscape Reference. July 31, 2015; http://emedicine.medscape.com/article/301914-overview.
  7. Iannuzzi MC, Sah BP. Sarcoidosis. Merck Manual. March 2014; http://www.merckmanuals.com/professional/pulmonary-disorders/sarcoidosis/sarcoidosis.