Sarcoidosis (Besnier-Boeck disease, Besnier-Boeck-Schaumann disease) is a multisystem inflammatory disease of unknown etiology, characterized by non-necrotizing granulomatous inflammation, predominantly in the lungs and intrathoracic lymph nodes.
Presentation
The presentation of the disease is highly dependent on the extent of damage to the organ. 5% of cases have no outward clinical manifestations making it hard to be diagnosed. There are also cases where the condition can be asymptomatic. However, with the aid of a chest X-ray the condition of the lungs can be clearly seen. The most common complaints are hyperthermia, anorexia and arthralgia; this is accompanied by pulmonary symptoms. A group of symptoms consisting of fever, bilateral hilar lymphadenopathy and polyarthralgia has good prognosis.
Immune System
- Splenomegaly
In this report, we describe the case of a 12-year-old girl presenting with fatigue and weight loss, with a painless hepato-splenomegaly without additional clinical signs on physical examination. [ncbi.nlm.nih.gov]
[…] anemia, leukopenia, and/or thrombocytopenia) Non-Hodgkin lymphoma Infections (e.g., EBV infection or Helicobacter pylori) Cell damage (caused by toxic substances, immunosuppressive drugs, cytostatic therapy, radiation) Indolent lymph node enlargement Splenomegaly [amboss.com]
Spleen (causing abdominal discomfort and distension due to splenomegaly). Upper respiratory tract (causing nosebleeds, rhinitis, nasal obstruction/masses or tonsillar involvement). [patient.info]
The indications of splenectomy include abdominal pain due to splenomegaly, hypersplenism, functional asplenia or spontaneous splenic rupture(6). [pneumologia.eu]
A very unusual complication of massive splenomegaly is splenic rupture (spontaneous or traumatic). Skin Cutaneous involvement occurs in about one-quarter of the patients 58. [erj.ersjournals.com]
- Cervical Lymphadenopathy
A high-resolution CT is more sensitive for detecting hilar and mediastinal lymphadenopathy and parenchymal abnormalities. [merckmanuals.com]
- Generalized Lymphadenopathy
Praveen Ranganath, Rajendra Kapila, Vivek Vadehra, Qing Wang, Eugenio Capitle and Nasrin Ghesani, Generalized Lymphadenopathy and 18-Fluorine Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography, Sexually Transmitted Diseases, 42, 2, (68 [doi.org]
lymphadenopathy Generalized swelling of lymph nodes Swollen lymph nodes affecting all regions of the body [ more ] 0008940 Increased antibody level in blood 0010702 Inflammation of the large intestine 0002037 Interstitial pulmonary abnormality Abnormality [rarediseases.info.nih.gov]
- Massive Splenomegaly
A very unusual complication of massive splenomegaly is splenic rupture (spontaneous or traumatic). Skin Cutaneous involvement occurs in about one-quarter of the patients 58. [erj.ersjournals.com]
Entire Body System
- Fatigue
Patients are eligible if they have a diagnosis of sarcoidosis, significant fatigue (measured using the Fatigue Assessment Scale) and have stable disease. [ncbi.nlm.nih.gov]
Sarcoidosis-associated fatigue: an often forgotten symptom. Expert Rev. Clin. Immunol. 9(2), 109–110 (2013). [doi.org]
- Fever
Sarcoidosis Patient will present as → a 30-year-old African American female with a cough, fever, and generalized body aches. [smartypance.com]
Heerfordt syndrome (also called uveoparotid fever) manifests as swelling of the parotid gland (due to sarcoid infiltration), inflammation of the eye ( uveitis ), chronic fever, and less often weakness or paralysis of the facial nerve. [merckmanuals.com]
Case A 41-year-old African American female presented to the emergency department with a cough, dyspnea, fevers, chills, night sweats, and fatigue. [hindawi.com]
Heerfordt syndrome (also called uveoparotid fever) manifests as swelling of the parotid gland (due to sarcoid infiltration), inflammation of the eye (uveitis), chronic fever, and less often weakness or paralysis of the facial nerve. [msdmanuals.com]
- Weight Loss
We present an interesting case of gastric sarcoidosis in a 39-year-old Caucasian man with symptoms of epigastric pain and profound weight loss. [ncbi.nlm.nih.gov]
Night sweats and weight loss are common symptoms of the disease. Common signs and symptoms in children are fatigue, loss of appetite, weight loss, bone and joint pain, and anemia. [web.archive.org]
- Weakness
[…] woman, known to have multiple medical problems, mainly papillary thyroid cancer status post-total thyroidectomy and cervical neck dissection in addition to radioactive iodine currently in remission for 1 year, who presented to the hospital with severe weakness [ncbi.nlm.nih.gov]
Even when lung function is normal, respiratory muscle strength is reduced in subjects with sarcoidosis, and respiratory muscle weakness increases dyspnea perception and impairs exercise capacity. 2, 4, 5, 6 One study 4 reported inspiratory muscle weakness [doi.org]
- Malaise
Abstract A 66-year-old woman, who was diagnosed with iritis, visited our hospital due to general malaise. A blood analysis revealed hypercalcemia. Computed tomography revealed mediastinal and hilar lymph node hyperplasia. [ncbi.nlm.nih.gov]
Nervous system Granulomas can appear in the brain, spinal cord, and facial and optic nerves May result in headache, confusion and malaise Facial paralysis Musculoskeletal Arthritis ( inflammation of the joints), periarthritis ( inflammation of surrounding [dermnetnz.org]
Fever, fatigue, vague chest pain, a feeling of illness (malaise), loss of appetite, weight loss, and aching joints may be the first indications of a problem in about one third of people. [merckmanuals.com]
Acute sarcoidosis has an abrupt onset with constitutional symptoms (e.g., fever, malaise) as well as cough, dyspnea, anterior uveitis, erythema nodosum, and arthralgia, and it is self-limiting after a few years. [amboss.com]
Respiratoric
- Cough
Her symptoms started with a dry cough, which became chronic about a year after it first developed. Unable to speak a sentence without coughing, Romaine began taking medicine to treat her sarcoidosis. [web.archive.org]
Case A 41-year-old African American female presented to the emergency department with a cough, dyspnea, fevers, chills, night sweats, and fatigue. [hindawi.com]
Sarcoidosis Patient will present as → a 30-year-old African American female with a cough, fever, and generalized body aches. [smartypance.com]
[…] stages Dry cough, exertional dyspnea Mild rales on pulmonary auscultation Extrapulmonary Common Peripheral lymph nodes are the most frequent site of extrapulmonary manifestation (40%). [amboss.com]
- Dyspnea
Respiratory muscle weakness occurs in sarcoidosis and is related to decreased exercise capacity, greater fatigue, dyspnea, and lower quality of life in sarcoidosis patients. [ncbi.nlm.nih.gov]
A score of ≥36 indicated severe fatigue. 27 Dyspnea The Modified Medical Research Council dyspnea scale was used to evaluate dyspnea severity during activity, graded from 0 (absence of dyspnea during strenuous exercise) to 4 (dyspnea during daily activities [doi.org]
Improvement with prednisone Suyama et. al. [12] 1990 55, male Dyspnea and fever 10 days Diffuse small nodular opacity, with bilateral lymphadenopathy Transbronchial lung biopsy Improvement with prednisone Sabbagh et al. [9] 2002 50, male Dyspnea and productive [hindawi.com]
- Dry Cough
Occasionally, mild dry coughing or dyspnoe are described. [flexikon.doccheck.com]
The acute course is marked by the presence of fever, arthralgia (painful joints), night sweats, acute arthritis, erythema nodosum (inflammation under the skin), dry cough, dyspnea (laboured breathing) when under stress, and swollen lymph nodes between [ims.uniklinik-freiburg.de]
Her symptoms started with a dry cough, which became chronic about a year after it first developed. Unable to speak a sentence without coughing, Romaine began taking medicine to treat her sarcoidosis. [web.archive.org]
[…] stages Dry cough, exertional dyspnea Mild rales on pulmonary auscultation Extrapulmonary Common Peripheral lymph nodes are the most frequent site of extrapulmonary manifestation (40%). [amboss.com]
- Persistent Cough
When it happens, depending on the extent of the fibrosis, the patient usually suffers a persistent cough, may experience shortness of breath, and may not be able to tolerate exercise. [healthcommunities.com]
Sarcoidosis Symptoms and Facts Symptoms of sarcoidosis vary widely depending on the organs involved: In the lungs: persistent cough, chest pain, and shortness of breath (these are the most common symptoms of the disease) In the skin: rashes, skin discoloration [uofmhealth.org]
Pogosti simptomi pljučne sarkoidoze so: fatigue and feeling ‘washed out’ težko dihanje, zlasti z vadbo dry and persistent cough bolečina v prsnem košu Lahko preberete, da svetovalci razvrščajo sarkoidozo v "stopnje Sarkoidoze". [sarcoidosisuk.org]
- Pleural Effusion
Despite overall clinical management with diuretics, pleural effusion persisted and the patient underwent medical thoracoscopy with pleural biopsy. [ncbi.nlm.nih.gov]
A second chest and abdominal CT scan showed the presence of newly formed bilateral pulmonary consolida-tion areas, with bilateral pleural effusion, more on the left side (Figures 2A and 2B). [pneumologia.eu]
Pleural effusions are usually minimal and resolve within 2–3 months, although massive effusions have been reported (Fig 19). [pubs.rsna.org]
Gastrointestinal
- Nausea
CONCLUSIONS The majority of patients with hepatic sarcoidosis are usually asymptomatic, with only 5-30% presenting with abdominal pain, jaundice, nausea, vomiting, and hepatosplenomegaly. [ncbi.nlm.nih.gov]
Apremilast dosage reductions were necessary for 2 patients (1 each for jitteriness and nausea). Both patients completed the study while receiving 20 mg daily without reporting further adverse events. [doi.org]
Side effects include nausea, vomiting, diarrhea, and stomach cramps or pain. Corticotropin to treat an overactive immune system. This is a type of hormone therapy. Side effects include changes to appetite or mood. [nhlbi.nih.gov]
- Dysphagia
Because he had persistent dysphagia, he underwent total thyroidectomy with resolution of dysphagia. Histopathological examination of the thyroid revealed non necrotizing granulomas consistent with sarcoidosis. [ncbi.nlm.nih.gov]
The following symptoms are encountered relatively commonly as a result of neurological involvement: Facial numbness, dysphagia, hoarseness, headache, visual field defects, polydipsia, hearing impairment, lesions of cranial nerves VII, VIII, IX and X, [patient.info]
[…] underwent sinus CT scanning and subsequently five patients (3% of total) had biopsy confirmation of SURT.1 Nasal stuffiness, blockage, crusting and anosomia are frequently noted at initial presentation.2 3 Less common are epistaxis, facial pain and dysphagia [thorax.bmj.com]
Jaw & Teeth
- Parotid Swelling
swelling (most common) Parotitis with xerostomia Heerfordt syndrome (uveoparotid fever), characterized by uveitis, bilateral parotid swelling, facial palsy, and chronic fever Oral lupus pernio, which may disfigure the hard palate and may involve the [merckmanuals.com]
Cardiovascular
- Chest Pain
A 67-year female patient, who was diagnosed as sarcoidosis previously, was admitted to our hospital with symptoms of dyspnea, chest pain and fatigue. Middle lobe atelectasis and endobronchial lesion were observed in thorax computed tomography (CT). [ncbi.nlm.nih.gov]
RESULTS: The frequency of cardiovascular symptoms in the study group was 87.04%. 59.26% of patients reported chest pain, the same subjects reported dyspnoea. 48.15% of respondents reported heart palpitations, 33.33% pre-syncope states, 12.96% syncope, [pesquisa.bvsalud.org]
Symptoms can include: Shortness of breath Coughing Fatigue Abnormal weight loss Chest pains Palpitations Dizziness Fever Rash Blurry vision Joint pain Treating Sarcoidosis Treatment is available though for those who need it, but a large percentage of [umms.org]
These include shortness of breath, ankle swelling, irregular heart beat and chest pain. [dermnetnz.org]
- Tachycardia
There were 11 ventricular tachycardia/fibrillation episodes occurring in 10 (22%) patients. Ventricular tachycardia/fibrillation occurred over a range of 1 to 79 days, median 24 days. [ncbi.nlm.nih.gov]
Liver, Gall & Pancreas
- Hepatosplenomegaly
The laboratory investigations showed pancytopenia, and imaging tests revealed hepatosplenomegaly and ascites. A diagnosis of systemic sarcoidosis was made based on biopsies of the liver, stomach, lungs, heart, and skin. [ncbi.nlm.nih.gov]
There were no other palpable lymph nodes, hepatosplenomegaly, fever, night sweats, or constitutional symptoms. [hindawi.com]
Next, the patient should have a complete physical examination to look for organ involvement (e.g., skin lesions, hepatosplenomegaly, neurologic signs, adenopathy, pulmonary rales, abnormal cardiac rhythms, and any signs of cardiac failure). [clinicaladvisor.com]
- Hepatomegaly
[…] vision, watery eyes and photophobia (dislike of light) iris nodules retinochoroiditis conjunctivitis lacrimal gland involvement optic nerves proptosis (protruding eyeball) Uncommonly, cataracts, glaucoma, and blindness can result Liver Up to 1/3 have hepatomegaly [dermnetnz.org]
Licence: CC BY-SA 3.0 Liver: ~ 80 % Elevated liver enzymes and in some cases hepatomegaly may be found. Clinically, there are usually no symptoms. Joints: ~ 40 % Joint pain and swollen joints occur frequently. [lecturio.com]
Abdomen Check for hepatomegaly and splenomegaly. Cardiorespiratory Chest signs of sarcoidosis are usually not detected unless advanced interstitial lung disease is present, when there may be scattered crackles. [patient.info]
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 [rarediseases.info.nih.gov]
Musculoskeletal
- Arthritis
Semin Arthritis Rheum 31: 346 – 352. [doi.org]
The arthritis of sarcoidosis. Arthritis Rheum. 1969; 12 126-137 42 Visser H, Vos K, Zanelli E et al.. Sarcoid arthritis: clinical characteristics, diagnostic aspects, and risk factors. [dx.doi.org]
The arthritis of sarcoidosis. Arthritis Rheum. 1969; 12 :126–137. [ PubMed ] [ Google Scholar ] 42. Visser H, Vos K, Zanelli E, et al. Sarcoid arthritis: clinical characteristics, diagnostic aspects, and risk factors. [ncbi.nlm.nih.gov]
- Arthralgia
Other symptoms include anterior uveitis, fever, ankle periarthritis, arthralgias, and pulmonary involvement. [emedicine.medscape.com]
The acute course is marked by the presence of fever, arthralgia (painful joints), night sweats, acute arthritis, erythema nodosum (inflammation under the skin), dry cough, dyspnea (laboured breathing) when under stress, and swollen lymph nodes between [ims.uniklinik-freiburg.de]
The most common form, the acute form, may be the first sign of sarcoidosis and present with arthralgia, arthritis, or periarthritis. [ncbi.nlm.nih.gov]
Fever, weight loss, arthralgias, and erythema nodosum (more commonly seen in Europeans) are the usual initial presenting symptoms. Cough and dyspnea may be minimal or absent. [smartypance.com]
[…] people affected by sarcoidosis have lung or chest symptoms: Chest pain (most often behind the breast bone) Dry cough Shortness of breath Coughing up blood (rare, but serious) Symptoms of general discomfort may include: Fatigue Fever Joint ache or pain (arthralgia [nlm.nih.gov]
- Migratory Polyarthritis
References:[6][7][1][8][9][10] Subtypes and variants Lofgren syndrome Highly acute clinical presentation with fever and the following triad of symptoms Migratory polyarthritis: symmetrical arthritis that primarily affects the ankles Erythema nodosum: [amboss.com]
Eyes
- Blurred Vision
A 64-year-old woman was admitted to our hospital for blurred vision, muscle weakness of extremities, Raynaud's phenomenon, and exertional dyspnea. We diagnosed her as having systemic sclerosis complicated with sarcoidosis. [ncbi.nlm.nih.gov]
vision Note that this is not an all-encompassing list. [stopsarcoidosis.org]
When eye symptoms do occur, they may include eye pain, blurred vision, severe redness, and sensitivity to light. [ccohs.ca]
vision or blindness Poor coordination Trouble walking Irregular heart rate Pain, swelling, and stiffness in the joints Facial paralysis known as Bell's Palsy Doctors diagnose sarcoidosis based on symptoms and medical tests that are usually positive in [uvahealth.com]
When eye signs and symptoms do occur, they may include: Blurred vision Eye pain Burning, itching or dry eyes Severe redness Sensitivity to light Heart symptoms Cardiac sarcoidosis: A heart under attack Click here for an infographic to learn more Signs [mayoclinic.org]
- Anterior Uveitis
Topical treatment for anterior uveitis and oral antibiotics for toxoplasmosis were started, without improvement. [ncbi.nlm.nih.gov]
uveitis Sarcoidosis is a multisystem disorder of unknown etiology characterized by the formation of inflammatory non-caseating granulomas within affected tissues. [radiopaedia.org]
Acute sarcoidosis has an abrupt onset with constitutional symptoms (e.g., fever, malaise) as well as cough, dyspnea, anterior uveitis, erythema nodosum, and arthralgia, and it is self-limiting after a few years. [amboss.com]
Other symptoms include anterior uveitis, fever, ankle periarthritis, arthralgias, and pulmonary involvement. [emedicine.medscape.com]
The eye This is affected in >20% of cases, most frequently as a granulomatous uveitis. Anterior uveitis is frequently of limited duration but posterior uveitis tends to be more persistent. [patient.info]
- Conjunctival Nodule
Biopsies from easily accessible areas (skin, peripheral lymphadenopathies, conjunctival nodules) should be considered. However, bronchoscopy with bronchial and transbronchial biopsies has a good diagnostic performance. [orpha.net]
If present, biopsy of skin lesions, conjunctival nodules, enlarged peripheral lymph nodes, or an enlarged lacrimal or parotid gland is preferable to an intra-thoracic biopsy due to the less invasive nature of the procedure. [clinicaladvisor.com]
Uveoparotid fever (Heerfordt’s syndrome) includes a combination of uveitis, parotid gland enlargement, and facial nerve palsy. w5 Many other ocular problems can occur including conjunctival nodules, lacrimal gland enlargement, cataracts, glaucoma, retinal [doi.org]
- Lacrimal Gland 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 [rarediseases.info.nih.gov]
Uveoparotid fever (Heerfordt’s syndrome) includes a combination of uveitis, parotid gland enlargement, and facial nerve palsy. w5 Many other ocular problems can occur including conjunctival nodules, lacrimal gland enlargement, cataracts, glaucoma, retinal [doi.org]
Skin
- Skin Lesion
Accordingly, a 6-month course of multidrug therapy led to a marked improvement in the skin lesions. [ncbi.nlm.nih.gov]
The "fleshy condition" refers to the skin lesions that often form on various parts of the body. Sarcoidosis is a multisystemic disease that can affect a variety of organs. [healthcommunities.com]
An index lesion was determined at baseline for each patient. For patients with more than 1 skin lesion, the lesion with the highest combined score of induration, erythema, desquamation, and area of involvement was designated the index lesion. [doi.org]
- Night Sweats
However, your overactive immune system may lead to problems with different organs of the body and lead to cough, shortness of breath, night sweats, joint pain and fatigue. [lung.org]
If you have symptoms, they may include: cough, shortness of breath, weight loss, night sweats, and fatigue. Tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. Not everyone who has the disease needs treatment. [aarda.org]
In most cases, sarcoidosis is revealed by persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and erythema nodosum. [ncbi.nlm.nih.gov]
If you have symptoms, they may include cough shortness of breath weight loss night sweats fatigue tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. Not everyone who has the disease needs treatment. [icd9data.com]
- Alopecia
Scarring alopecia secondary to sarcoidosis is common [ 5, 8, 10, 14, 15, 20, 25, 26, 30 ] although non-scarring alopecia has also been described [ 5, 9, 16 ] including a case of alopecia involving only the legs [ 28 ] and a case of total body alopecia [web.archive.org]
Mohammad-Ali Yazdani Abyaneh, Preethi Raghu, Kenneth Kircher, Heinz Kutzner, Kortz Alison and John Andrew Carlson, Circumscribed cicatricial alopecia due to localized sarcoidal granulomas and single-organ granulomatous arteritis: a case report and systematic [doi.org]
Lesions can heal with scarring, and, if plaques involve the scalp, they may lead to alopecia. Patients with plaque lesions usually have more severe systemic involvement. Annular sarcoidosis. [emedicine.medscape.com]
CUTE ISTIOCITOSI SARCOIDOSI (MALATTIA DI BESNIER-BOECK-SCHAUMANN) TUMORI MESENCHIMALI E LESIONI PSEUDOTUMORALI NEI O NEVI MELANOMA CUTANEO ALTERAZIONI DELLA PIGMENTAZIONE CUTANEA ITTIOSI E DERMATOSI ITTIOSIFORMI MALATTIE E ALTERAZIONI DEGLI ANNESSI Alopecia [medicalinformation.it]
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 [rarediseases.info.nih.gov]
- Eczema
Types & treatments Childhood eczema Adult eczema Insider secrets Types of hair loss Treatment for hair loss Causes of hair loss Hair care matters Insider secrets What is psoriasis Diagnosis & treatment Skin, hair & nail care Triggers Insider secrets What [aad.org]
" 16 Oct. 2019 Other skin diseases can appear too: eczema (inflamed, itchy, irritated skin); vitiligo (a loss of skin pigment in blotches); sarcoidosis (an inflammatory disease); lichen planus (flat, itchy, purple bumps); even skin cancer. — Sandee Lamotte [merriam-webster.com]
[…] non-specific (similar to several other skin conditions) or specific Non-specific lesions include: erythema nodosum : tender, 1-2cm bumps mostly on the shins; often accompanied by arthritis in the ankles, elbows, wrists and hands ( Löfgren syndrome ) nummular eczema [dermnetnz.org]
Alpha interferon-induced eczema in atopic patients infected by hepatitis C virus: 4 case reports. Ann Dermatol Venereol. 2000; 127 51-55 (IV) 17 Tahan V, Ozseker F, Guneylioglu D. et al. [doi.org]
- Cutaneous Manifestation
The goal of this review is to provide the reader with an updated summary of the cutaneous manifestations of systemic sarcoidosis, with a particular emphasis on the predilection of sarcoidosis for scars, tattoos, and other areas of traumatized skin. [ncbi.nlm.nih.gov]
Sarcoidosis presenting as a scarring alopecia: report of a rare cutaneous manifestation of systemic sarcoidosis. Dermatology. 1996;193(2):144-6. [ PubMed ] 11. Bleehen SS. Systemic sarcoidosis with scalp involvement. [web.archive.org]
cutaneous manifestations The remainder of this article pertains to a general discussion of sarcoidosis. [radiopaedia.org]
Urogenital
- Polyuria
[…] of hypothalamic involvement, due either to diabetes insipidus or a disordered control of thirst; the syndrome of inappropriate secretion of anti-diuretic hormone (SIADH) has also been reported. 35, 36 In a study by Stuart et al ., 35 polydipsia and polyuria [dx.doi.org]
Neurologic
- Headache
Other Symptoms: Because sarcoidosis can affect any organ in the body, a wide variety of symptoms can be seen, including: Fatigue Unexplained weight loss Night sweats Overall feeling of sickness Irregular heart beat Swollen legs Headaches Visual problems [stopsarcoidosis.org]
Symptoms related to the eyes: Burning Itchiness Redness Pain Dryness Sensitivity to light Seeing black spots (floaters) Blurry vision Symptoms related to the heart: Shortness of breath Palpitations Leg swelling Symptoms related to the nervous system: Headache [health.ucsd.edu]
This can cause a number of symptoms, such as abnormal heartbeats, shortness of breath, headaches, and vision problems. If sarcoidosis affects the heart or brain, serious complications can occur. [web.archive.org]
[…] or pain (arthralgia) Weight loss Skin symptoms may include: Hair loss Raised, red, firm skin sores ( erythema nodosum ), almost always on the front part of the lower legs Rash Scars that become raised or inflamed Nervous system symptoms may include: Headache [nlm.nih.gov]
- Confusion
Sarcoidosis is often referred to as a ”great mimicker” because it is easily confused with many other diseases. In Arizona, Valley Fever can be difficult to distinguish from sarcoidosis. [azpulm.com]
It's often confused with other diseases when you first see your doctor. Making notes before your visit, as well as taking along a trusted family member or friend, can help you through the first appointment with your doctor. Learn More [lung.org]
Some plaques may even appear scaly and can be confused with lesions of psoriasis or lichen planus. Dermoscopy may aid in the clinical diagnosis, as noted above. Plaque sarcoidosis. [emedicine.medscape.com]
Nervous system Granulomas can appear in the brain, spinal cord, and facial and optic nerves May result in headache, confusion and malaise Facial paralysis Musculoskeletal Arthritis ( inflammation of the joints), periarthritis ( inflammation of surrounding [dermnetnz.org]
- Peripheral Neuropathy
This article highlights an important treatment option for sarcoidosis small-fiber neuropathy CrossRef Google Scholar 9. Hays A. Utility of skin biopsy to evaluate peripheral neuropathy. Curr Neurol Neurosci Rep. 2010;10:101–7. [doi.org]
Peripheral neuropathy is a rare, yet treatable manifestation of sarcoidosis, a multisystem disorder characterized by the presence of non-caseating granulomas that are seldom found in nerve biopsy specimens. [ncbi.nlm.nih.gov]
Sarcoidosis of the peripheral nerve: a histological and ultrastructural study of two cases. Acta Neuropathol 1982 ; 58 : 111 –14. Zuniga G, Ropper AH, Frank J. Sarcoid peripheral neuropathy. [dx.doi.org]
- Cranial Nerve Involvement
No actual sensory deficit Ankle reflexes abolished Cranial nerve involvement No No Facial diplegia No No No No No No No No CSF cells/ml n.d. n.d. 36 lymph. 3 lymph. n.d. 1 lymph. 5 lymph. 2 lymph. n.d. [dx.doi.org]
Peripheral nerve or cranial nerve involvement with sarcoidosis often does not need to be treated, or it will respond to a short course of steroids. [clinicaladvisor.com]
Cranial nerve involvement, especially facial nerve palsy, is a common clinical manifestation. When bilateral facial nerve palsies develop in young adults, sarcoidosis is the most likely cause. [pubs.rsna.org]
- Somnolence
[…] region. 40 Sarcoid invasion of the satiety centre in the ventral median nucleus of the hypothalamus may also lead to morbid obesity. 42 In addition to the above abnormalities, other manifestations attributed to hypothalamic sarcoidosis include marked somnolence [dx.doi.org]
Workup
Diagnosing sarcoidosis is not only done with one test. Since the disease is quite complex, it requires multiple combination laboratory examinations to come up with a concrete diagnosis. The signs and symptoms of sarcoidosis are very general as well, so the disease needs thorough medical examination. The following are the major laboratory examinations conducted to diagnose the disease.
Imaging
- Chest X-ray – a primary imaging study done in a person suspected to have sarcoidosis. This is done to visualize infiltrates present within the lugs and even swollen lymph nodes.
- Bronchoscopy – examines the patency of the bronchial pathways as well as checks for granulomas. It is also done for the purpose of extracting a tissue for biopsy.
- CT scan – done to acquire a clearer view of the lungs as well as the lymph nodes.
- Pulmonary function test – measures lung components and functioning [1]
Laboratory tests
- Blood test – ensures overall health and identifies abnormal blood finding
- Serum markers – serum amyloid A (SAA), soluble interleukin-2 receptor (sIL-2R), lysozyme, angiotensin-converting enzyme (ACE) and glycoprotein are checked for normal levels. These three are known markers of sarcoidosis [2].
These are just a few of the most important workups done to identify sarcoidosis. The first step in diagnosing sarcoidosis is to rule out other pulmonary conditions such as tuberculosis or COPD among others. As mentioned, the signs and symptoms are very general, they can occur and mimic that of other diseases; the reason why it’s important to set aside other diseases.
Skin Test
- Anergy
Compared with the asymptomatic group, symptomatic patients had impaired peripheral responses to TLR2, TLR4, and TLR9 ligands (anergy) and reduced peripheral populations of CD4 1 FoxP3 1 regulatory T cells (Tregs). [ncbi.nlm.nih.gov]
[…] environmental agents Increased risk with some HLA genotypes Increase in pulmonary T cell CD4:CD8 ratio Increase in T cell derived cytokines IL-2 and IFN-gamma Increase in other cytokines (IL-8, TNF, others) in microenvironment Clinical features Commonly anergy [pathologyoutlines.com]
Anergy is believed to be responsible for the increased risk of sarcoidosis patients to aquire opportunistic infections and cancer. [doi.org]
Purified protein derivative (PPD) skin testing should be done early in the assessment along with anergy controls. [merckmanuals.com]
X-Ray
- Pulmonary Infiltrate
Sarcoidosis can affect all individuals with any race, sex, or age but commonly affects young- and middle-aged adults and usually presents with bilateral hilar lymphadenopathy, pulmonary infiltration, skin and ocular lesions. [ncbi.nlm.nih.gov]
Radiographic Stages of Pulmonary Sarcoidosis: STAGE< TAB> DESCRIPTION 0< TAB> Normal Chest Radiograph I< TAB> Bilateral Hilar Lymphadenopathy II< TAB> Pulmonary Infiltration and Bilateral Hilar Lymphadenopathy III< TAB> Pulmonary Infiltration alone Steroid-requiring [clinicaltrials.gov]
Abstract Sarcoidosis is a granulomatous disease that most frequently affects the lungs with pulmonary infiltrates and/or bilateral hilar and mediastinal lymphadenopathy. [doi.org]
- Bilateral Hilar Adenopathy
Since lung affection is of such a paramount importance in sarcoidosis, a classification exists: Type 0 - no pulmonary involvement, isolated sarcoidosis in other organs Type I - bilateral hilar adenopathy Type II – additionally, involvement of pulmonary [flexikon.doccheck.com]
Twenty-two patients admitted over a 2-year period to our department with bilateral hilar adenopathy and a variety of symptoms compatible with sarcoidosis were studied prospectively. [ncbi.nlm.nih.gov]
Whole-body gallium scans can be used to show useful sites for biopsy and, in some cases, to follow disease progression Serial pulmonary function tests are important for assessing disease progression and guiding treatment Bilateral hilar adenopathy in [smartypance.com]
hilar adenopathy in stage I sarcoidosis. [msdmanuals.com]
- Nephrolithiasis
Due to hypercalzaemia related to sarcoidosis in 15% of the cases, chronic kidney failure can be a result of chronic nephrolithiasis. 4 Etiology No casuistic explanation for the pathophysiology of sarcoidosis has yet been found. [flexikon.doccheck.com]
Increased serum calcium with no other cause Increased urine calcium Nephrolithiasis, no stone analysis Nephrolithiasis analysis showing calcium Nephrolithiasis with negative family history for stones Neurologic Positive MRI with uptake in meninges or [doi.org]
Can cause nephrolithiasis, neuropsychiatric disturbance, abdominal pain and bone pain. [patient.info]
Kidney stones (nephrolithiasis) may result from the abnormal calcium metabolism Sarcoidosis How is sarcoidosis diagnosed? There is no single or specific diagnostic test for sarcoidosis. [dermnetnz.org]
- Atelectasis
Middle lobe atelectasis and endobronchial lesion were observed in thorax computed tomography (CT). [ncbi.nlm.nih.gov]
[…] microenvironment Clinical features Commonly anergy to skin test antigens, polyclonal hypergammaglobulinemia Presents as perihilar node involvement, diffuse pulmonary disease, pulmonary interstitial fibrosis, localized bronchial stenosis, distal bronchiectasis and atelectasis [pathologyoutlines.com]
Atelectasis.—The obstruction of lobar or segmental bronchi by small endobronchial granulomas or enlarged peribronchial lymph nodes results in atelectasis (34,60) (Fig 18). [pubs.rsna.org]
A coronal view of the trachea and major airways demonstrates narrowing of the right upper lobe (circle) with associated atelectasis of the anterior segment of the right upper lobe. Figure courtesy of Dr Robert Dales. [thorax.bmj.com]
- Pericardial Effusion
Systemic sarcoidosis with pericarditis and pericardial effusion. N Z Med J. 1966 Oct; 65 (410):704–708. [ PubMed ] [ Google Scholar ] Articles from Journal of the National Medical Association are provided here courtesy of National Medical Association [ncbi.nlm.nih.gov]
AV block formation left ventricular insufficiency, and pericardial effusion has been reported. Bones Sarcoidosis may attack the bones as well causing, among others, cystic changes in the phalanges of fingers. [lecturio.com]
effusion ( 43 ). [doi.org]
Serum
- Lymphocytosis
The cerebrospinal fluid analysis showed a moderately elevated protein content and a significant lymphocytosis 86.5%. Electrocardiogram (ECG) showed complete atrioventricular block. [ncbi.nlm.nih.gov]
Table 3 Investigation and treatment of Hypothalamo-pituitary sarcoid (HPS) Investigations that may help in the diagnosis of HPS Serum and CSF ACE CSF Increased protein Lymphocytosis/lymphocyte subpopulations Hypoglycorrhachia ↑ lysozyme and β 2 microglobulin [dx.doi.org]
The findings on BAL vary considerably, but lymphocytosis (lymphocytes > 10%), a CD4 + /CD8 + ratio of > 3.5 in the lavage fluid cell differential, or both suggest the diagnosis in the proper clinical context. [merckmanuals.com]
[…] bilateral granulomatous uveitis is the most common presentation. [30] CD4/CD8 ratio of vitreous-infiltrating lymphocytes has high diagnostic value in ocular sarcoidosis, comparable to that of the CD4/CD8 ratio in bronchoalveolar lavage fluid (BALF) lymphocytosis [emedicine.medscape.com]
- Neutropenia
A disorder characterized by anemia and neutropenia due to impaired bone marrow function and a multisystem noncaseating granulomatous (NCG) disorder typical of sarcoidosis, culminated in acute myeloblastic leukemia (AML) in a patient after 6 years of observation [ncbi.nlm.nih.gov]
Abstract A disorder characterized by anemia and neutropenia due to impaired bone marrow function and a multisystem noncaseating granulomatous (NCG) disorder typical of sarcoidosis, culminated in acute myeloblastic leukemia (AML) in a patient after 6 years [dx.doi.org]
Azathioprene (imuran) has several common side effects of including nausea and neutropenia. Other drugs are limited in their effects due to toxicity levels such as cyclophosphamide (cytoxan). [physio-pedia.com]
- Monocytosis
Monocytosis, occurring in the majority of sarcoidosis cases in the bloodstream, and an increased number of natural killer cells are a manifestation of an increased cellular defence by bone marrow cells. [ncbi.nlm.nih.gov]
[…] and hemolytic anemia are fairly rare.[18] In the absence of splenomegaly, leukopenia may reflect bone marrow involvement, but the most common mechanism is a redistribution of blood T cells to sites of disease.[64] Other nonspecific findings include monocytosis [en.wikipedia.org]
- Hyperuricemia
Indications for Corticosteroid Therapy in Cases of Sarcoidosis Starting with stage II, with simultaneous restricted pulmonary function Hypercalcemia and hyperuricemia (threat of chronic renal insufficiency) Involvement of the eyes, liver, CNS, myocardium [lecturio.com]
Since both may manifest with hyperuricemia and similar clinical findings, demonstration of monosodium urate crystals phagocytozed by neutrophils is diagnostic. [doi.org]
Other Pathologies
- Granulomatous Tissue
Nested polymerase chain reaction for Mycobacterium tuberculosis IS6110 sequence on formalin-fixed paraffin-embedded tissues with granulomatous diseases for rapid diagnosis of tuberculosis. [doi.org]
Granulomatous production of parathyroid-hormone related protein (PTH-rP) may also play a role in abnormal calcium metabolism, 4 where tissue necrosis factor-alpha (TNF-α) and interleukin-6, produced by macrophages, increase PTH-rP gene expression. 4 PTH-rP [dx.doi.org]
Biopsy
- Granulomatous Arthritis
Histologic, ultrastructural, and immunocytochemical features of the granulomas seen in a child with the syndrome of familial granulomatous arthritis, uveitis, and rash. [ncbi.nlm.nih.gov]
Pleura
- Pleural Effusion
Despite overall clinical management with diuretics, pleural effusion persisted and the patient underwent medical thoracoscopy with pleural biopsy. [ncbi.nlm.nih.gov]
A second chest and abdominal CT scan showed the presence of newly formed bilateral pulmonary consolida-tion areas, with bilateral pleural effusion, more on the left side (Figures 2A and 2B). [pneumologia.eu]
Pleural effusions are usually minimal and resolve within 2–3 months, although massive effusions have been reported (Fig 19). [pubs.rsna.org]
Treatment
Most patients only require symptomatic treatment with non-steroidal anti-inflammatory drugs (NSAIDs). For extrapulmonary sarcoidosis, corticosteroid therapy is often indicated, although steroid-sparing agents (e.g. methotrexate, azathioprine) are often used as alternatives [3] [4] [5] [6].
Prognosis
When sarcoidosis is detected early, the prognosis can be very excellent. However, there are many cases of misdiagnosis because of the nature of its clinical manifestations which is very general. Although the disease can disappear over time, there are cases where it becomes chronic or remissions and relapse may occur. According to studies, half of sarcoidosis cases can be cured within 12 to 36 months while the other half remains chronic or can come and go for years.
Etiology
The exact etiology of this disease is unknown. However, many physicians suggest that it is actually caused by a mix of environmental factors and genetics. There is also a study suggesting that it is caused by an alteration in the immune system’s normal response to external pathogens. However, what initiates the abnormal response is not known. There are a lot of probable causes mentioned but all these are just speculations that need further investigation.
Although the cause of sarcoidosis is unknown there are several risk factors which can trigger the disease. Age and gender are major considerations. The disease is most common in women and the targeted age group is mostly between the ages of 20 and 40. With regards to race, African Americans are more prone of having this disease. It can also be severe to this specific race than that of others. People who have family members that have sarcoidosis are likely to acquire the disease as well.
Epidemiology
The cases of sarcoidosis are widely distributed all over the world. It can happen to anyone regardless of race or ethnicity. People under the age of 50 are more vulnerable with developing the disease; specifically its peak is highly noticeable at the age between 20 to 39 years old. The occurrence of sarcoidosis differs from one place or country to another. Environmental exposures, genetic considerations and predispositions are just a few examples of factors that affect the occurrence of the disease. According to research, the highest number of cases recorded each year came from Northern European countries with an average of 5 to 40 people having sarcoidosis in a sample of 100,000. In Asia, Japan has had 1 to 2 cases with the same sample population.
In the United States, black Americans have the tendency to develop sarcoidosis more than white Americans. Doctors observe that the disease occurs two to three times more in black Americans. Aside from this, the disease is more severe in this group of people; it may even lead to death. Based on gender, sarcoidosis is more prevalent in females. This data is consistent among all races. While there are many articles saying that sarcoidosis is influenced by socioeconomic status, this is actually a myth. The risk factors for this disease are the same in both the rich and the poor.
Pathophysiology
The development of sarcoidosis starts when an outside pathogen is inhaled. With a foreign body inside the lungs this will then trigger the initiation of the inflammatory process. Immune mediating cells such as giant cells, compose the core, surrounded by an outer rim of T lymphocytes will start migrating to the area in order to help in the normal healing process.
Non-necrotizing granulomas will start to develop and a lesion is formed inside the lungs – this is now called a sarcoid inflammation. A granuloma is a solid formed cell that blocks external pathogens. The core of the latter is composed of epithelioid histiocytes and multinucleated giant cells while the external wall consist of T lymphocytes. T cells play a major role in the occurrence of sarcoidosis because they elicit an exaggerated immune response.
Lymphocytes move tightly together during electrophoresis, they also have limited T-cell receptors and a steady antigen-driven process. The inflammatory process of sarcoidosis is reliant on a consistent initiation of CD4+ T cells. A difference in genetic make-up and T cell receptors which regulates the affinity of antigens is the reason for the development of the disease.
Several studies have been conducted to determine the specific cause of sarcoidosis.
It is still unclear whether it is caused by a single factor or by an alteration in the normal response of the immune system. At present, only identifiable risk factors are known.
Classification
The classification for sarcoidosis is identified according to the results of a chest X-ray as well as the body part or organ affected. The following are classified stages according to chest X-ray results.
- Stage 0 : normal chest radiograph
- Stage I : hilar or mediastinal nodal enlargement only
- Stage II : nodal enlargement and parenchymal disease
- Stage III : parenchymal disease only
- Stage IV : end-stage lung (pulmonary fibrosis)
As mentioned, Sarcoidosis can also be classified according to the affected organ. These are just some of the most common ones.
- Erythrodermic sarcoidosis
- Subcutaneous sarcoidosis
- Mucosal sarcoidosis
- Neurosarcoidosis
- Annular sarcoidosis
- Mucosal sarcoidosis
Prevention
There are no guidelines for prevention of sarcoidosis.
Summary
Sarcoidosis is one of the many diseases that are idiopathic in nature. Considered an inflammatory disease, sarcoidosis is characterized by the presence of granulomas which are mainly composed of accumulated inflammatory cells such as T-lymphocytes. Sarcoidosis can occur at any part and organ in the body. However, it is most common in the lungs and the lymph nodes. This disease may cause a disruption in the physiological function of the organ or affect its overall structure.
An exact cure for the treatment of sarcoidosis has yet to be discovered. Although there is no cure at present, patients of the disease respond well with adjunct therapies.
The occurrence of sarcoidosis is quite unpredictable; it can occur at any time without any trigger and disappear on its own. Its symptoms may also become dormant and resurface after several years or the person can carry it throughout his lifetime. While the prognosis for sarcoidosis is generally good, there are severe cases of the disease where it can lead to organ damage and eventually failure.
Though uncommon, sarcoidosis is not a new disease. It was discovered over 100 years ago by two well-known dermatologists, Dr. Jonathan Hutchinson from England and Dr. Caesar Boeck from Norway. Before the term Sarcoidosis was coined the disease was called Hutchinson's disease or Boeck's disease. It was later changed to sarcoidosis which means flesh-like. The latter is a term used to describe breaks in the skin which are highly evident in people with sarcoidosis.
Patient Information
Once you are diagnosed with sarcoidosis, you have to immediately consult a specialist for your condition. Scheduled check-ups, follow-ups and daily monitoring must be done to observe the progression of the disease. It is also best to religiously undergo laboratory studies as to monitor whether you are getting well or not.
Following treatment regimens and listing unusual symptoms will also help in the developing a care plan. It is also important to remember that once you have sarcoidosis you have to get an annual shot of influenza immunization. Since sarcoidosis is a lung disorder, if smoking is a habit you have to find ways to slowly stop it. Consult an expert and seek for advice, immediately stopping might cause withdrawal symptoms which may be very harmful.
References
- Davies CW, Tasker AD, Padley SP, Davies RJ, Gleeson FV. Air trapping in sarcoidosis on computed tomography: correlation with lung function. Clin Radiol. Mar 2000;55(3):217-21.
- Miyoshi S, Hamada H, Kadowaki T, et al. Comparative evaluation of serum markers in pulmonary sarcoidosis. Chest. Jun 2010;137(6):1391-7.
- Baughman RP, Judson MA, Teirstein AS, Moller DR, Lower EE. Thalidomide for chronic sarcoidosis. Chest. Jul 2002;122(1):227-32.
- Fazzi P, Manni E, Cristofani R, et al. Thalidomide for improving cutaneous and pulmonary sarcoidosis in patients resistant or with contraindications to corticosteroids. Biomed Pharmacother. Jun 2012;66(4):300-7.
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McKinzie BP, Bullington WM, Mazur JE, Judson MA. Efficacy of short-course, low-dose corticosteroid therapy for acute pulmonary sarcoidosis exacerbations. Am J Med Sci. Jan 2010;339(1):1-4.
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Pietinalho A, Tukiainen P, Haahtela T, Persson T, Selroos O. Early treatment of stage II sarcoidosis improves 5-year pulmonary function. Chest. Jan 2002;121(1):24-31.