Overlap syndrome

Abstract

Introduction. Overlap syndromes are inflammatory rheumatic conditions in which patients have clinical manifestations suggestive of multiple distinct immune diseases. The diseases most commonly involved in overlap syndromes include rheumatoid arthritis, lupus, scleroderma, and myositis. Case statement. A 13-year-old patient presents with polyarthralgias and swelling in the lower and upper limbs (shoulder joints bilaterally, metacarpophalangeal joints bilaterally, radiocarpal joints bilaterally, proximal interphalangeal joints I-V bilaterally, knees bilaterally), morning stiffness > 1h, visual analogue scale of pain (VAS) 70 mm, fatigue, heliotrope rash, Gottron papules. The disease began with polyarthralgias in the upper and lower limbs, weight loss of 12 kg in 3 months, enthesitis in the Achilles tendon. Since the age of 9, she has been in the endocrinologist's records with diabetes type 1, the severe form, unbalanced. She is receiving insulin replacement therapy. From the paraclinical data performed: Screening ANA-positive; ANA profile: SS-A 61; Ro-52 100; Jo-1 103; CEN B 27; Anti-AMA, Anti-LKM, Anti-ASMA negative; S100 protein 0,05; CBC: Tr 550; VSH 35 mm/h; Biochemistry: ALAT 57,7; ASAT 74,4; Creatine kinase 1606; Creatine Kinase MB 99,5; LDH 551; Coagulogram: Fibrinogen 4,32; Immunology: RF >160 IU/ml; CRP 23,2. The clinical diagnosis was established: OVERLAP syndrome: Juvenile idiopathic arthritis, polyarticular form, seropositive (RF >160 IU/ml), high disease activity (JADAS10-27pt), joint erosions. Juvenile dermatomyositis with skin involvement (Gottron papules, mechanic's hands, heliotrope rash), muscle (muscle weakness, increased muscle breakdown enzymes), joint (inflammatory arthritis), autoimmune abnormalities (anti ANA positive, ANA profile: SS-A 61; Ro-52 100; Jo-1 103; CEN B 27). Type 1 diabetes, severe form, unbalanced. Autoimmune thyroiditis. Discussions. Dermatomyositis is an idiopathic inflammatory myopathy with characteristic cutaneous findings that occur in children and adults. This systemic disorder most frequently affects the skin and muscles but may also affect the joints, the esophagus, the lungs and, less commonly, the heart. Examination for cutaneous dermatomyositis may reveal the following findings: characteristic, possibly pathognomonic cutaneous features: heliotrope rash, Gottron papules. Laboratory and other studies that may be helpful include the following: muscle enzyme levels (eg, creatine kinase, aldolase, aspartate aminotransferase, lactate dehydrogenase), myositis-specific antibodies, antinuclear antibody levels, pulmonary function studies with diffusion capacity, electrocardiography. Juvenile idiopathic arthritis (JIA) is chronic arthritis that affects approximately 1 in every 1,000 children. JIA affects children less than 16 years of age. It is not usually inherited. JIA may affect one or many joints. Children with JIA may also have silent eye inflammation, fevers, or rash. Systemic onset JIA may affect many joints and organs. Oligoarticular JIA occurs in half of all children with JIA. It affects fewer than five joints and occurs more often in girls. Polyarticular JIA affects five or more joints. Other forms of JIA include juvenile psoriatic arthritis and enthesitis-related arthritis. Conclusion. Early diagnosis and early addressing to a specialist will prevent patients from radical laborious interventions and possible complications.