Abstract Details

Title Clinical And Genetic Characteristics Of Sarcoidosis : A Study Of 65 Cases

Topic Multiple Sclerosis

Presentation(s) MS and CNS Inflammatory Disease Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 060

Objective

The aim of this study is to describe clinical, paraclinical and genetic characteristics in a cohort of Tunisian patients with sarcoidosis.

Background

Sarcoidosis is a systemic granulomatosis of unknown etiology, characterized by clinical polymorphism. The role of genetic component in this immune-mediated disorder is undisputable.

Design/Methods

We conducted a retrospective study including 65 patients who were diagnosed with sarcoidosis, referred to the department of neurology and internal medicine of the Military Hospital of Tunis from 1997 to 2020. Clinical, neuroimaging, genetic features, therapeutic data and outcome were analyzed.

Results A total of 65 patients with sarcoidosis were enrolled in this study. Mean age at presentation was 46.68 years. Neurological symptoms were the first clinical manifestation of sarcoidosis in 14% of cases. The most common manifestations included central nervous involvement and cranial neuropathies. pulmonary sarcoidosis is observed in 47 patients and Ophthalmological involvement is present in 26 patients. Findings on magnetic resonance imaging (MRI) included a variety of manifestations, including diffuse intraparenchymal inflammatory lesions in the brain and spinal cord, leptomeningeal enhancement and optic nerve involvement . Pleiocytosis and elevated CSF protein were found in 14 patient.The genetic study concerned only 50 patients. A high frequency was found for the HLA DRB1 * 1501 and HLA-DRB1 * 0301, the same for the DD genotype and the D allele for the angiotensin-converting enzyme gene. First line therapy with corticosteroids was initiated in 56 cases. Second line therapy consisting of azathioprine and hydroxychloroquine was initiated in 12 cases. Outcome consisted of complete remission in 17 patients.

Conclusions

Sarcoidosis has a heterogeneous clinical presentation and the diagnosis can be difficult. Recent advances in the pathophysiology and genetics could have therapeutic implications for early management of the disease.

Authors/Disclosures
PRESENTER	No disclosure on file
Hajer Derbali (Military hospital)	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file

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