Maria Fernanda Carpintero

Hemoglobinopathies are inherited diseases caused by mutations in globin genes. Thalassemias are inherited defects in globin chain synthesis resulting in hypochromia and microcytosis. Skeletal changes in thalassemias can result in cortical thinning, osteoporosis, and vertebral compression fractures. Sickle cell disease is a single gene disorder caused by homozygous inheritance for sickle cell hemoglobin. Vaso-occlusive crises of bone occur in people with sickle cell disease and result in severe pain at the site of bony infarction, typically of long bones. The index of suspicion for septic arthritis should be high in sickle cell disease patients who present with fever and joint pain. Hyperuricemia can be seen in those with sickle cell disease and thalassemias, but gout is uncommon.

Little is known regarding whether mortality among ESRD patients with SLE differs between those initiating with peritoneal dialysis (PD) versus hemodialysis (HD). This study compared the mortality risk of ESRD patients with SLE initiating with PD versus HD after matching their baseline sociodemographic and clinical factors. Of 11,023 ESRD patients with SLE initiating dialysis with PD or HD between 1995 and 2006 with complete records in the US Renal Data System, 1352 pairs were matched on 13 predictors utilizing a predicted probability of group membership into the PD group using propensity score matching. The primary outcome was overall mortality. Secondary outcomes were cardiovascular-related and infection-related mortality. Outcomes were compared between groups with survival statistics. The period of observation ended on December 31, 2009. The median follow-up was 3 years. Matched pairs were predominantly women (86%) with a median age of 39 years. Matched pairs had a balance (P ≥ 0.05) of all baseline factors. Matched pairs had a similar risk of overall mortality (hazard ratio, 0.96 [95% confidence interval, 0.82 to 1.13]; mortality, 21.4% [290 to 1352] versus 22.5% [304 to 1352] for PD versus HD) within the first 3 years of observation. Matched pairs also had similar cardiovascular-related mortality (10.5% versus 9.5% for PD versus HD) and infection-related mortality (3% versus 4.4% for PD versus HD). In ESRD patients with SLE, the mortality was similar among those initiating with PD versus HD after predictors were matched between groups.

The catastrophic antiphospholipid syndrome (CAPS) is a rare life-threatening form of the antiphospholipid syndrome characterized by disseminated vascular thrombosis resulting in multiorgan failure. On an exceedingly rare occasion, CAPS can be associated with severe hemorrhagic manifestations. We report a young woman with a history of several spontaneous miscarriages who presented with menorrhagia and hemoptysis. The patient developed respiratory failure due to diffuse alveolar hemorrhage. Laboratory tests demonstrated severe hemolytic anemia, profound thrombocytopenia, markedly elevated fibrin degradation products, and renal failure. Blood films revealed numerous schistocytes. Serologic tests disclosed hypocomplementemia and autoantibodies directed against several nuclear antigens. Coagulation studies revealed lupus anticoagulant. Echocardiography demonstrated reduced ejection fraction and moderate to severe mitral and tricuspid regurgitation. The patient was diagnosed with CAPS with hemorrhagic manifestations in the setting of new-onset SLE. The patient was treated with hemodialysis, high-dose glucocorticoids, plasma exchange, intravenous cyclophosphamide, and rituximab. Over the ensuing four weeks, the combination therapy led to hematological, cardiopulmonary, and renal recovery. This exceedingly rare case emphasizes that hemorrhagic manifestations, severe microangiopathic hemolytic anemia, and profound thrombocytopenia can dominate the clinical picture in CAPS.

This article provides a comprehensive review of rheumatologic considerations for a clinician when evaluating a patient with neck pain. Clearly, anatomic derangements of the cervical spine should be considered when a patient complains of cervicalgia. However, one must also entertain the possibility of a systemic illness as the cause of the pain. Examples of diseases that may present with a prominent feature of neck pain are discussed, including rheumatoid arthritis, ankylosing spondylitis, diffuse idiopathic skeletal hyperostosis, myositis, and fibromyalgia. Evidence of an underlying rheumatic illness may guide the clinician in a different therapeutic direction.