ABSTRACT
BACKGROUND: Mixed connective tissue disease (MCTD) is a rare autoimmune disease, characterized by the production of specific autoantibody anti-RNP, which presents with varied overlapping symptoms of different connective tissue disorders. The aim of this study is to identify the frequency and patterns of MCTD. METHODS: This is a descriptive cross-sectional hospital-based study conducted at the rheumatology clinic at Omdurman Military Hospital between February 2019 and July 2019. The study included 30 patients and data were collected using a designated questionnaire. RESULTS: The study showed that the majority of patients (96.7%) were females and only 3.3% was male. About 30% of the patients aged between 30 and 39 years were the most affected. As a first diagnosis, 10% of the patients had a MCTD fulfilling the Alarcon-Segovia criteria. The remaining 90% of the patients were diagnosed with other diseases before evolving into MCTD. The most common clinical presentation was arthralgia in 100% of the patients, 90% were symmetrically followed by myositis in 70% of the patients, arthritis in 63.3% of the patients, puffy fingers in 63.3% of the patients, and hand swelling in 60% as major musculoskeletal symptoms. Regarding the initial results in immunological profile, the most common positive autoantibodies among the patients were anti-RNP titer in 96.7% of the patients, ANA in 90%, anti-Sm in 50%, RF in 50%, anti-Ds DNA in 46.7%, and anti-Ro in 43.3%. CONCLUSION: This study showed that MCTD is more common in females, only 10% of patients presented with a fulfilling criteria of the disease at diagnosis, and the rest of the patients presented with other rheumatologic diseases before evolving into MCTD.
ABSTRACT
Thrombotic thrombocytopenic purpura (TTP) is an uncommon life-threatening condition characterized by hemolytic disorders. The coexistence of systemic lupus erythematosus (SLE) with TTP is extremely rare, although Africans are at increased risk due to inherited risk factors. This report describes a rare clinical manifestation of TTP associated with SLE in a Sudanese patient. A 41-year-old Sudanese woman presented to the emergency department with symptoms and features that were suggestive of malaria, for which she had been treated accordingly. However, a few days later she complained of fever, and was found to have a body temperature of 39.5°C, jaundice, anemia, and thrombocytopenia. Soon after admission, she developed confusion and unrecordable blood pressure. After the patient had stabilized, clinical assessment, immune-system investigation (antinuclear antibody profile, complements, blood panel), and imaging revealed a diagnosis of TTP associated with SLE. The patient received imipenem 500 mg, five sessions of plasmapheresis (60 mL/kg), methylprednisolone 1 g pulse for 3 days, and rituximab 375 mg/week. Three weeks later, the patient was discharged after her condition had improved, and she is now on regular follow-up.
