Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical course and cardiac pathology of three adults with MCTD who developed myocarditis and that of two other previously reported cases are reviewed. The patients presented with cardiomegaly, congestive heart failure, ventricular arrhythmias, and elevated serum CPK MB fraction. Except for more frequent episodes of serositis and less prevalent neuropsychiatric manifestations and hepatosplenomegaly, no distinguishing features were found in MCTD patients with myocarditis compared with those without myocardial involvement. The concomitant onset of proximal myositis and myocarditis in one patient suggests a common inflammatory pathologic process in the skeletal and cardiac muscles. Circulating antibodies to myocardium and to cardiac conduction tissue were found in nine of 23 (39%) MCTD patients, but the presence of these autoantibodies was not associated with the occurrence of clinical cardiac involvement. The clinical and pathologic features of the five MCTD patients were similar to that of SLE patients with myocarditis. Primary myocardial involvement in MCTD, as in SLE, was associated with a relatively poor prognosis.
 ...
PMID:Myocarditis in mixed connective tissue disease: clinical and pathologic study of three cases and review of the literature. 294 Jun 85

A case of a 45-year-old woman with a prolonged disease (more than 16 years) is reported. The initial manifestations were those of Raynaud's syndrome. Later a very complex combination of symptoms and syndromes developed which included: arthritis, arthralgia, skin eruptions, lymphadenopathy, hepatosplenomegaly, a tendency toward sclerodermic changes of the face and the distal parts of the fingers, Sjogren's syndrome, slight anemia, transient leucopenia, fast ESR, increased serum immunoglobulin G and A levels and presence of high antibody titres against a nuclear ribonucleoprotein. The authors consider the case as a mixed connective tissue disease.
 ...
PMID:[Mixed connective tissue disease (Sharp's syndrome)--a case report]. 341 79

Macrophage activation syndrome (MAS) belongs to secondary hemophagocytic lymphohistiocytosis (HLH) syndrome. It is usually associated with rheumatic diseases. We retrospectively reviewed our hospital's medical records of 102 HLH/MAS patients from the past 20 years. Demographics, clinical data, treatment, and outcomes were analyzed. Among 102 patients, eight patients with underlying juvenile systemic lupus erythematous (two patients), mixed connective tissue disease (one patient), primary anti-phospholipid syndrome (one patient), and systemic type juvenile rheumatoid arthritis (sJRA; four patients) with 13 episodes of MAS were studied. Clinical manifestations of MAS included fever (100 %), hepatosplenomegaly (77 %), lymphadenopathy (38 %), skin rash (62 %), and neurological involvement (31 %). Laboratory features included leukopenia (54 %), anemia (46 %), thrombocytopenia (77 %), jaundice (27 %), hypofibrinogenemia (40 %), decreased erythrocyte sedimentation rate (67 %), and elevated liver enzymes (77 %), lactate dehydrogenase (100 %), ferritin (88 %), triglycerides (91 %), C-reactive protein (85 %), plasma D-dimer (50 %), and hemophagocytosis in bone marrow (83 %). The Epstein-Barr virus and adenovirus infection triggered MAS in two patients with sJRA. Methylprednisolone pulse therapy was effective in two out of three patients, and high-dose intravenous immunoglobulin (IVIG) was effective in two out of six patients. Patients with sJRA responded well to corticosteroids and cyclosporine. Complications included opportunistic infection with Pneumocystis jiroveci, multiple organ failure, and intensive care unit myopathy. The mortality rate was one out of eight (12.5 %). Our results showed that MAS could be fatal and complicate various pediatric autoimmune diseases. It generally has a good response to corticosteroids and IVIG. Prompt recognition and timely treatment can result in good outcomes.
 ...
PMID:Clinical analysis of macrophage activation syndrome in pediatric patients with autoimmune diseases. 2261 46