Definition of sarcoidosis
Sarcoidosis is a systemic inflammatory disease of unknown aetiology, characterized by the formation of cellular agglomerates (granulomas) in one or more organs. Sarcoidosis can present a self-limiting pattern and disappear within a few months, or it can become chronic.
In the most severe forms, sarcoidosis can be fatal: it is the case of the cardiac variant, in which the victim can die from heart failure.
Given that symptomatic sarcoidosis must be treated pharmacologically, in general, the disease presents a good / excellent prognosis.
Symptoms
Not all forms of sarcoidosis are symptomatic: some patients, in fact, are unaware of the disease as long as it is not diagnosed by simple routine analysis.
It is estimated that sarcoidosis occurs asymptomatically in 5% of affected patients.
When they occur, symptoms may involve one or more tissues / organs, depending on the anatomical site affected.
Before listing the signs and symptoms of the different variants of sarcoidosis, we see the prodromes that share most of the symptomatic forms of the disease:
- Fatigue
- Arthralgia or joint pain *
- Rural drop
- Fever / fever *
- Granulomas: distinctive sign of sarcoidosis, always present (except for asymptomatic forms)
- General malaise
- Loss of appetite *
Symptoms marked with (*) tend to appear simultaneously; it is observed that 45% of sarcoidosis patients complain of this symptom triad.
The table shows the most recurrent symptoms in the different forms of sarcoidosis.
Table of symptoms
| Affected anatomic site | Symptoms |
| Joint and muscle sarcoidosis | Arthralgia (pain + joint inflammation) |
| Cardiac sarcoidosis | Cardiomyopathy Heart failure, heart block and sudden death Cardiac irregularities (eg bradycardia) fainting |
| Skin sarcoidosis | Erythema nodosum (especially at the level of the legs): violet and painful nodules Rash Maculo-papular lesions Panniculitis of the lower limbs associated with painful nodules Hair loss Skin sores and scar lesions Possible bone involvement Rush skin (purple papules) |
| Sarcoidosis of the endocrine system | Alterations of the thyroid Insipid diabetes |
| Sarcoidosis of the central nervous system | Changes in vision and hearing Anemia Convulsions Epitaxis (nosebleeds) Weakness on part of the face Difficulty swallowing Pituitary dysfunction Leukopenia enlarged lymph nodes Headache Lymphocytic meningitis (very common) Cranial nerve paralysis / facial paralysis (reversible with specific therapy) thrombocytopenia Dry mouth |
| Sarcoidosis of the lymphatic glands | Enzymatic alterations Enlarged and swollen lymph nodes in the neck, arms, chest Hepatic failure |
| Hepatic and splenic sarcoidosis | Hepatomegaly (enlarged liver) Splenomegaly (enlarged spleen) |
| Ocular sarcoidosis | Alteration of sight Burning eyes Ocular pain Glaucoma Uveitis Tear / dry eye Conjunctival lesions Itchy eyes Sjögren syndrome |
| Pulmonary sarcoidosis | Dyspnoea Hemoptysis Shortness of breath / dyspnea Reduced tolerance to efforts Dry cough |
| Renal sarcoidosis | Kidney stones hypercalcemia |
Diagnosis
To ascertain a suspicion of sarcoidosis, three important criteria must be met:
- presence of the characteristic granuloma (with giant cells and epithelioids)
- skin / deep lesions compatible with the disease
- exclusion of other similar diseases: lymphomas, Crohn's disease, systemic mycoses, lung cancer and tuberculosis
What diagnostic tests are available for sarcoidosis?
Sarcoidosis is confirmed by the following diagnostic tests:
- Clinical observation of symptoms and search for signs of the disease: palpation of abdomen and lymph nodes, assessment of heartbeat, skin lesions and joint swelling
- Trans bronchial / endobronchial / cutaneous or lymph node lung biopsy with relative laboratory analysis
- Bronchoscopy with bronchoalveolar lavage: in the context of sarcoidosis, the broncho-alveolar lavage fluid is rich in T-helper or Th lymphocytes, to the detriment of T-suppressor or Ts lymphocytes (ratio 5: 1). Let us briefly recall that Ts lymphocytes block the activity of Th and cytotoxic lymphocytes
- Radiological examination (TAC): it can detect suggestive alterations induced by sarcoidosis, especially in the lung
- CT scan to assess liver and spleen size
- Scintigrafia: imaging technique in which it is possible to detect the radiation emitted by the organism after the administration of radioactive drugs
- Evaluation of respiratory capacity: important for recording any pulmonary compromise
- Blood test and analysis of serum ACE (angiotensin-converting enzyme): increased ACE activity increases the suspicion of sarcoidosis in patients complaining of typical signs and symptoms. It appears, in fact, that ACE activity is favored and enhanced by the granulomas themselves.
- Liver function test
Drugs and therapy
In some cases, sarcoidosis regresses spontaneously without the need to intervene with specific care: in similar situations, however, it is necessary that the patient undergoes routine checks constantly, to intervene promptly if necessary.
In the most serious cases, on the other hand, the drugs are the only salvation for the patient: as analyzed, in fact, some variants of the disease can degenerate up to heart failure or can induce death by respiratory failure.
Ocular, pulmonary, cardiac and CNS forms require specific therapy:
- Corticosteroids: particularly effective in reducing inflammation and pain
- NSAIDs: indicated for the control of mild / moderate pain and inflammation in the context of sarcoidosis
- Anti-rejection drugs: indicated to suppress the immune system and reduce inflammation. To be used only when the patient does not respond positively to treatment with corticosteroid drugs
- Antimalarial drugs: indicated for the treatment of sarcoidosis associated with serious skin lesions, possibly involving the CNS
- Drugs inhibiting alpha tissue necrosis factor: for the treatment of sarcoidosis in patients suffering from rheumatoid arthritis
In some variants of sarcoidosis, the treatment must be continued for a few months, while other forms need some years to regress completely. In cases of extreme delicacy, permanent treatment is the only lifeline from sarcoidosis.
