Systemic Autoimmunity in a Multiple Sclerosis Patient - Thyroid and Liver Overlap

Case Presentation:

We present the case of a 62 year-old female with Multiple Sclerosis (MS) and systemic autoimmunity syndrome. She is an outpatient in a tertiary neuroimmunology clinic and is also followed by rheumatology, dermatology, hepatology and endocrinology specialists.

She presented trouble walking at age 53, developing sensory and weakness in her lower limbs in the following 4 years. There was no marked clinical attack. Cervical-thoracic MRIs showed multiple short thoracic demyelinating lesions in the lateral and dorsal funiculi and corresponding volume reduction. Brain MRIs showed periventricular, deep white matter, pons, medulla oblongata, cerebellar penducles and cerebellar hemispheres lesions. She was diagnosed with Primary Progressive Multiple Sclerosis (PPMS). Currently she is under treatment with ocrelizumab.

At age 38, she was diagnosed with hypothyroidism, and a positive anti-TPO antibody allowed Hashimoto’s Thyroiditis diagnosis. Persistently high transaminases and biliary tract inflammation led to the diagnosis of autoimmune sclerosing cholangitis. Rheumatologic workup showed anti-mitochondria cytoplasmatic ANA 1:320, p-ANCA 1:80 and anti-mitochondria 1:160. She had type 3 oligoclonal banding.

At her last clinical visit, EDSS score was of 3.5 and T25FW time of 12 and 13 seconds. She presented trouble walking, urinary urge incontinence, lower limb sensory and motor deficits and multiple pyramidal signs.

Discussion:

Autoimmunity markers are often seen in MS patients, as well as a strong correlation to other autoimmunity diseases. Some cases present a particularly complex challenge in differentiating between comorbidity and neurological manifestation of a systemic disease. Clinical features and radiological findings can help establishing diagnosis.

Final Comments:

We presented an uncommon PPMS case with systemic autoimmunity features. The complexity and frequency of other autoimmunity disorders make a high level of suspicion necessary. This case illustrates the importance of continuous multidisciplinary evaluation and follow up.