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Sarcoidosis

From SNPedia

wikipedia:Sarcoidosis


Sarcoidosis is an immune system disorder characterised by small inflammatory nodules. Virtually any organ can be affected; however, granulomas most often appear in the lungs (D86.0) or the lymph nodes (D86.1). Symptoms can occasionally appear suddenly but usually appear gradually.

Sarcoidosis occurs throughout the world in all races. It is more commonly seen in people of African descent than Caucasians, primarily people of northern European descent in the latter case. Pulmonary involvement is the most common presentation of sarcoidosis.

Sarcoidosis is a systemic disease that can affect any organ. Common symptoms are vague, such as fatigue unchanged by sleep, lack of energy, weight loss, aches and pains, arthralgia, dry eyes, blurry vision, shortness of breath, a dry hacking cough or skin lesions. The cutaneous symptoms vary, and range from rashes and noduli (small bumps) to erythema nodosum or lupus pernio. It is often asymptomatic.

The combination of erythema nodosum, bilateral hilar lymphadenopathy and arthralgia is called Lofgren syndrome. This syndrome has a relatively good prognosis.


Recently, several SNPs in the region of the annexin A11 ANXA11 and mannose receptor MRC1 genes have been associated with sarcoidosis, including: