Rare Pediatrics News

Disease Profile

Sarcoidosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Sarcoid of Boeck; Schaumann's disease

Categories

Endocrine Diseases; Eye diseases; Heart Diseases;

Summary

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]

Symptoms

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.

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.

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 nasal mucosa morphology
Abnormality of mucosa of nose
Abnormality of mucous membrane of nose
Abnormality of nasal mucous membrane
Abnormality of the nasal mucosa

[ more ]

0000433
Abnormal reproductive system morphology
0012243
Abnormality of the gastrointestinal tract
0011024
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
00

Treatment

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]

Management Guidelines

    Organizations

    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

        Learn more

        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.

            References

            1. What Is Sarcoidosis?. National Heart, Lung and Blood Institute. June 14, 2013; https://www.nhlbi.nih.gov/health/health-topics/topics/sarc.
            2. Sarcoidosis. MayoClinic.com. January 22, 2016; https://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; https://www.lung.org/lung-health-and-diseases/lung-disease-lookup/sarcoidosis/.
            6. Kamangar N. Sarcoidosis. Medscape Reference. July 31, 2015; https://emedicine.medscape.com/article/301914-overview.
            7. Iannuzzi MC, Sah BP. Sarcoidosis. Merck Manual. March 2014; https://www.merckmanuals.com/professional/pulmonary-disorders/sarcoidosis/sarcoidosis.

            Rare Pediatrics News