Sarcoidosis

Sarcoidosis is a disease in which swelling (inflammation) 
occurs in the lymph nodes, lungs, liver, eyes, skin, or other tissues.

Causes

The cause of the disease is unknown. 
In sarcoidosis, clumps of abnnormal tissue (granulomas) 
form in certain organs of the body. Granulomas are clusters of immune cells.

The disease can affect almost any organ of the body, 
but it most commonly affects the lungs.

Possible causes of sarcoidosis include:

• Excess sensitivity to environmental factors
• Genetics
• Extreme immune response to infection

The condition is more common in African Americans than Caucasians. 
Females are usually affected more often than males. 
The disease typically begins between the ages of 20 and 40. 
Sarcoidosis is very rare in young children.

Symptoms

There may be no symptoms. 
When symptoms occur, they can involve almost any part or organ system in your body.

Almost all patients have lung or chest symptoms:

• Dry cough
• Shortness of breath
• Discomfort behind your breast bone
• Abnormal breath sounds (such as rales)

Symptoms of general discomfort or uneasiness often occur:

• Ill feeling (malaise)
• Fatigue (one of the most common symptoms in children)
• Fever
• Weight loss (one of the most common symptoms in children)
• Joint achiness or pain (arthralgia)

Skin symptoms:

• Skin rashes
• Old scars become more raised
• Raised, red, firm skin sores (erythema nodosum), 
• almost always on the front part of the lower legs
• Skin lesions
• Hair loss

Nervous system (neurological) and vision changes:

• Headache
• Seizures
• Weakness or paralysis (palsy) on one side of the face
• Eye burning, itching, and discharge
• Symptoms of uveitis
• Decreased tearing

Other symptoms of this disease:

• Enlarged lymph glands (armpit lump)
• Enlarged liver
• Enlarged spleen
• Dry mouth
• Fixed swelling of the salivery glands may be due to cancer or sarcoidosis
• Nosebleed

Exams and Tests

Often the disease is found in patients with no symptoms who have an abnormal chest x-ray.

Different imaging tests may help diagnose sarcoidosis:

• Chest x-ray to see if the lungs are involved or lymph nodes are enlarged
• CT scan
• Lung gallium (Ga.) scan

Biopsies of different tissues may be done:

• Lymph node biopsy
• Skin lesion biopsy
• Bronchoscopy to perform a biopsy
• Open lung biopsy
• Mediastinoscopy with biopsy
• Liver biopsy
• Kidney biopsy
• Nerve biopsy
• Heart biopsy

This disease may also alter the results of the following lab tests:

• CBC
• Chem-7 or chem-20
• Quantitative immunoglobulins (nephelometry)
• PTH
• Serum phosphorus
• Immunoelectrophoresis - serum
• Calcium - urine
• Calcium - ionized
• Calcium - serum
• Liver function tests

Treatment

Sarcoidosis symptoms often get better on their own gradually without treatment.

Severely affected patients may need treatment with corticosteroids 
(prednisone or methylprednisolone). 
This includes people who have involvement of the 
eyes, heart, nervous system, and some with lung involvement. 
Therapy may continue for 1 or 2 years. 
Some of the most severely affected patients may require life-long therapy.

Drugs that suppress the immune system (immunosuppressive medicines), 
such as methotrexate, azathioprine, and cyclophosphamide, 
are sometimes used in addition to corticosteroids. 
Rarely, some people with irreversible organ failure require an organ transplant.

Although these treatments may temporarily improve the symptoms of the disease, 
long-term treatment has not been proven to prevent sarcoidosis from slowly getting worse.

Outlook (Prognosis)

Many people are not seriously ill, and the disease may get better without treatment. 
About 30 - 50% of cases get better without treatment in 3 years. 
About 20% of those whose lungs are involved will develop lung damage.

The overall death rate from sarcoidosis is less than 5%. Causes of death include:

• Scarring of lung tissue (pulmonary fibrosis)
• Bleeding from the lung tissue
• Involvement of the heart (rarely)

Possible Complications

• Osteoporosis and other complications of taking corticosteroids for longer periods of time.
• Diffuse interstitial pulmonary fibrosis
• Pulmonary hypertension
• Fungal lung infections (aspergilloma)
• Anterior uveitis
• Glaucoma and blindness (rare)
• Cardiac arrhythmias
• Cranial or peripheral nerve palsies
• High calcium levels (hypercalcemia)
• Kidney stones
• Organ failure, leading to the need for a transplant

When to Contact a Medical Professional

Call your health care provider if you have:

• Difficulty breathing
• Vision changes
• Palpitations
• Other symptoms of this disorder

Dry eye syndrome (keratoconjunctivitis sicca)

This may be due to decreased tear production by the lacrimal glands in old age, 
or, less commonly, in: Sjogren's syndrome associated with connective tissue disorders 
(especially RA); mumps; sarcoidosis; amyloid; lymphoma; leukaemia; haemochromatosis. 
Other causes: excess evaporation of tears (post-exposure keratitis);
 or mucin deficiency in the tears 
(avitaminosis A, Stevens-Johnson syndrome, pemphigoid, chemical burns). 
Schirmer's test (strip of filter paper put over-lapping lower lid; 
tears should soak >15mm in 5min) reveals insufficient production. 
Artificial tears may be used for symptomatic relief.

Choroiditis (choroidoretinitis)

The choroid is part of the uvea (iris, ciliary body and choroid), and 
inflammatory disorders affecting the uvea may also affect the choroid. 
The retina may be invaded by organisms which set up a granulomatous 
reaction (which can be mistaken for a retinoblastoma). 
Toxoplasmosis and toxocara are now more common than TB.
Sarcoidosis is another cause.

Causes of septal nasal perforation

After septal surgery; trauma; nose picking; body piercings; nasal prongs (O₂ delivery); 
sniffing chrome salts or cocaine (any odd behaviour, fever, or fits); 
rodent ulcer or other malignancy; 
any chronic mucosal inflammation/granuloma e
g TB; syphilis; HIV, extra-GI Crohn's disease;sarcoidosis; SLE; Wegener's; leishmaniasis;
 cryoglobulinaemia; 
fungi; relapsing polychondritis 
(look for chondritis in auricles, 
nose and trachea non-erosive polyarthritis, 
eye inflammation, and vestibular or cochlear damage; it may be fatal.

Still's disease

This juvenile chronic arthritis subtype (JCA) presents with systemic upset in a prepubertal girl with: mono- or poly-articular synovitis, cartliage erosion, fevers, pericarditis, iridocyclitis, pneumonitis (lung biopsy specific), lymphadenopathy, splenomegaly. 

It is a rare cause of toe walking - on tip-toes

•  other causes are a short Achilles tendon; habit; muscle contractures; cerebral palsy. 

Rheumatoid factor is positive. 

• Other subgroups: juvenile ankylosing spondylitis; psoriatic arthritis and ulcerative colitis-associated arthritis; juvenile-onset rheumatoid arthritis (here Rh factor +ve, and less likely to present as systemic upset.

Adult-onset Still's disease (AOSD): diagnostic criteria all of: 

•  daily fever >39°C; 
• arthralgia/arthritis; 
• Rh factor and antinuclear factor positive plus any 2 of: 
• WCC >15 x 10⁹/L; rash; serositis (pleural or pericardial); hepatosplenomegaly; lymphadenopathy provided that endocarditis, leukaemia and sarcoidosis are excluded. As with all rheumatology, classification is muddled, and unexpected complications may occur (DIC, liver failure; renal failure; amyloid; cardiac tamponade; sterile endocarditis; peritonitis).

Tests

WCC; ESR; mild anaemia; ferritin; LFT; albumin; echo.

Treatment

Mild exercise; then rest for 1h each day. If hips are affected, physiotherapy aims to prevent contractures by encouraging extension (eg lying prone on the floor to watch TV). Splinting, traction, and non-weight-bearing exercises are tried. Hot baths help morning stiffness. Give aspirin, up to 80mg/kg/day PO pc to give levels <250mg/L (beware liver & CNS toxicity). Alternative: naproxen 5mg/kg/12h PO pc. If there is severe systemic disturbance, prednisolone 0.5mg/kg/day may be used. In unremitting destructive disease, consider penicillamine, gold, hydroxychloroquine, and infliximab (in those with AOSD; SE include serious infections, eg TB & pneumonia). Surgery may be needed to conserve joint function.₇₄