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Ehlers-Danlos syndrome (EDS) is an inherited disorder of connective tissue (skin, bone, cartilage, and similar structural tissues) that involves mutations of collagen (the body's major structural protein) and features joint hypermobility, skin hyperelasticity and fragility, and a variety of other problems. One rare and unusual type of EDS, type VIII EDS, is characterized by gum disease and premature loss of teeth. A case of EDS with these features is described; the patient also had bone problems, vasculitis (inflammation of blood vessels), and heart valve disease. The patient developed more or less normally until puberty, except for premature loosening of permanent teeth. Soon after the start of menstruation, widespread hives with underlying small-vessel vasculitis developed. Arthritis in multiple joints then developed, and steroids failed to heal the skin problems. Vasculitis remained confined to the skin, however. Over a 10-year period, since age 15, joint dislocations, erosive arthritis, and severe osteolysis (bone destruction) occurred, as have classic signs involving skin and joints. Insufficiency of several heart valves occurred, with hypertrophy (overgrowth) of heart chambers slowly developing. Modern laboratory techniques were used to analyze the patient's collagen. Two subtypes of type I collagen were present in both a normal and abnormal form, and the abnormal type apparently could not be secreted efficiently by cells for use in structural tissues. The patient had T lymphocytes (immune cells important in fighting foreign organisms) which reacted with the type I collagen; collagen is usually inert to the immune system and a protein made by the T cells which reacted with the collagen was detected. The report suggests that the collagen-binding protein may play a role in the development of this patient's disease. (Consumer Summary produced by Reliance Medical Information, Inc.)

Levels of leukocytes (white blood cells) in synovial (joint) fluid increase in most types of arthritis, and the type of cell can help to determine the extent of inflammatory disease that may be present. Numbers of leukocytes can vary, from an average of 15,000 per cubic millimeter of fluid (mm3) to as high as 100,000/mm3 in some cases of rheumatoid arthritis (RA). In addition, the type of leukocyte is important; higher levels of polymorphonuclear neutrophils (PMNs) are often found in cases of severe acute arthritis. The differences in levels of leukocytes and particularly in levels of lymphocytes (immune cells important in defending against infection and which may mediate tissue destruction in arthritis) were studied in relation to medication taken by 45 patients with RA. The patients had detectable joint effusions (extrusion of fluid, suggestive of continued arthritis in spite of medication), necessitating fluid removal, so that synovial fluid was thus available for analysis. Of 22 patients taking nonsteroidal anti-inflammatory drugs (NSAIDs, which decrease inflammation but do not affect the underlying disease process), 17 had a predominance of lymphocytes in synovial fluid. The proportion and total levels of lymphocytes were significantly lower in patients taking a second-line (disease-modifying) drug such as methotrexate (MTX), gold, or hydroxychloroquine (HCQ). Total leukocyte counts were significantly higher in patients taking MTX or gold than those taking HCQ plus NSAIDs. Among these latter patients, five had taken only NSAIDs at one point and had predominantly lymphocytes in synovial fluid. The report suggests that relative levels of different leukocytes may vary according to therapy given for RA. (Consumer Summary produced by Reliance Medical Information, Inc.)