Mixed connective tissue disease complicated by heart failure in Ile-Ife, Nigeria: management challenges in a resource-limited economy

Abstract

BackgroundMixed connective tissue disease (MCTD; also known as Sharp’s syndrome) is a rare autoimmune inflammatory disorder characterized by high titer of U1 ribonucleoprotein (U1RNP) antibody and clinical and serological overlap of systemic lupus erythematosus, systemic sclerosis, and polymyositis. The diagnosis is based on clinical and serological factors in criteria such as Alarcon-Segovia, Khan, Kusakawa, and Sharps. Cardiac disease can be a complication of connective tissue disease (CTD). There are few reports in Africa.AimsTo present MCTD as underlying cause of heart failure with reduced ejection fraction and highlight challenges of investigations and treatment.ObjectivesTo highlight the first case in our center and discuss the cardiac, respiratory, and rheumatologic management.Patient and methodsWe present a 52-year-old woman with 3 weeks history of productive cough with whitish sputum, severe dyspnea, orthopnea, paroxysmal nocturnal dyspnea, right sided abdominal pain, leg swellings, a one year history of recurrent fever, Raynaud’s phenomenon, small joint swellings and deformities with pain in both hands.ResultsOn examination there was microstomia, tethered forehead and lower eyelid skin, tender swelling of the interphalangeal joints and arthritis mutilans. Laboratory findings showed estimated glomerular filtration rate <60 mL/kg/min/1.73 m2, U1RNP antibody levels were eight times upper limit of normal, elevated rheumatoid factor, speckled antinuclear antibody pattern, negative anticentromere antibody, anti Scl-70 and anticyclic citrullinated peptide. Chest X-ray/CT revealed pulmonary fibrosis. Echocardiography findings showed reduced ejection fraction of 40%, elevated pulmonary arterial pressure at rest of 60.16 mmHg. The patient showed improvement on antifailure drugs, but prednisolone was stopped for sudden reversal of previously controlled stage 2 hypertension (HTN), and the patient was discharged in a stable condition. Difficulties ensued in obtaining prompt definite results due to the unavailability of serologic tests in the hospital, and the tests were done outside the state and country.ConclusionIdentifying MCTD is critical, especially in patients requiring steroids that may worsen systemic HTN and heart failure. There is a need to have definitive investigative facilities for such patients in hospitals.

Exploring clinical features and therapeutic outcomes in Indian children with mixed connective tissue disease: A multicenter study

“…We, thereby, ventured to study the clinical profile and treatment practices of jMCTD patients from several centers in the most populous part of the world. The mean age at onset for the patients in our cohort was 10.4 years, which aligns with prior literature that found the average age at onset for jMCTD to be between 9.5 and 12 years, with a higher occurrence among females 10 . Although our youngest patient was 4 years old, there are reports of MCTD occurring in children as young as 2.5 years of age 16 …”

“…The mean age at onset for the patients in our cohort was 10.4 years, which aligns with prior literature that found the average age at onset for jMCTD to be between 9.5 and 12 years, with a higher occurrence among females. 10 Although our youngest patient was 4 years old, there are reports of MCTD occurring in children as young as 2.5 years of age. 16 Diagnosis was primarily based on Kasukawa's criteria in our cohort, followed by Alacron-Segovia's criteria.…”

“…The adult literature suggests these patients can develop mild-to-severe complications such as interstitial lung disease, pulmonary arterial hypertension (PAH), and myocardial involvement. 10 The differences between pediatric and adult-onset MCTD remain poorly understood. While some studies suggest a milder course in children, others have found a less favorable outcome as compared to adults.…”

“…The rate of remission after long‐term follow‐up remains unclear. The adult literature suggests these patients can develop mild‐to‐severe complications such as interstitial lung disease, pulmonary arterial hypertension (PAH), and myocardial involvement 10 …”