Kawasaki disease in adults: Observations in France and literature review.

OBJECTIVE: Kawasaki disease (KD) is a vasculitis that mostly occurs in young children and rarely in adults. We analyzed the characteristics of adult-onset KD (AKD) in France. METHODS: We collected retrospective and prospective data for patients with a diagnosis of KD occurring after the age of 18 years. Cases were obtained via various French medical networks and identified from the international literature. RESULTS: We included 43 patients of AKD at 26 institution from 1992 to 2015, with mean (SD) age 30 (11) years (range 18-68) and sex ratio (M/F) 1.2; 34 patients met the American Heart Association criteria and 9 were incomplete AKD. The median time to diagnosis was 13 days (interquartile range 8-21). The main symptoms were fever (100%), exanthema (98%), changes in the extremities (91%), conjunctivitis (77%), oral cavity changes (89%), cervical adenitis (55%) and cardiac abnormalities (45%). Overall, 35% of patients showed large-vessel vasculitis: coronary vasculitis (26%) and coronary aneurysm (19%). Treatment was mostly intravenous immunoglobulins (79%) and aspirin (81%). Four patients showed myocardial infarction due to coronary vasculitis, but none were treated with IVIg because of late diagnosis. After a median follow-up of 5 months (range 1-117), persistent aneurysm was noted in 9% of cases. Damage was significantly lower with early treatment than late or no treatment (p=0.01). CONCLUSION: Given the high frequency of cardiac involvement and complications in this series of AKD, diagnosis and treatment should not be delayed, and early IVIg treatment seems to improve the outcome.

Strong association between a new marker of hemolysis and glomerulopathy in sickle cell anemia.

To perform a precise evaluation of the hemolytic status of patients with sickle cell anemia (SCA), advanced red blood cell parameters provided by the last generation analyzers were investigated in a series of SCA patients. The search for precise markers of hemolysis was performed to identify if patients so exposed develop organic complications related to a postulated hemolysis-linked endothelial dysfunction. Red blood cell survival was evaluated by the ratio between mature red blood cell (RBC) and reticulocyte (RET) hemoglobin (RBC-Hb/RET-Hb). In comparison with serum lactate dehydrogenase (LDH) and total bilirubin, the log (RBC-Hb/RET-Hb) was identified as the most discriminant hematological parameter to evaluate hemolysis. Furthermore, by combining this parameter with LDH, we defined a composite variable, which we called CVar, that is highly correlated with albuminuria and might constitute a powerful new marker of risk for this complication.

Glomerular hyperfiltration in adult sickle cell anemia: a frequent hemolysis associated feature.

BACKGROUND AND OBJECTIVES: Sickle cell anemia-associated nephropathy is a growing matter of concern because renal failure affects most aging sickle cell anemia patients. Glomerular damage is a common feature revealed by a microalbuminuria or a macroalbuminuria. Although glomerular hyperfiltration has been described for decades in this population, its prevalence in young adults is unknown. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: To address this issue, as well as the clinical and biologic correlates of hyperfiltration, a single-center, cross-sectional study of 280 homozygous SS disease patients was performed. RESULTS: The prevalence of hyperfiltration assessed by Modification of Diet in Renal Disease estimated GFR was 51%. Among patients with hyperfiltration, 49% had hyperfiltration alone, whereas 36% and 15% had an associated microalbuminuria or macroalbuminuria, respectively. Estimated GFR sensitivity and specificity for hyperfiltration were 94% and 63%, respectively, in a selected subgroup of 48 patients (measured GFR was assessed by urinary (51)Cr EDTA clearance). In patients with no albuminuria, hyperfiltration status was significantly associated with a young age (years), the absence of alpha thalassemia, a lower hemoglobin level (g/dl), and a lower fetal hemoglobin. The role of chronic hemolysis was further strengthened by multivariate analysis showing a correlation between estimated GFR and a low plasma fetal hemoglobin level, a young age, and a high reticulocyte count (r(2) = 0.54). CONCLUSIONS: Together, the data suggest that the pathophysiology of hyperfiltration would rather be attributable to the hemolysis-associated vasculopathy rather than a viscosity-vaso-occlusive process.

[Auto-inflammatory syndromes and pregnancy]. / Syndromes auto-inflammatoires et grossesse.

In familial mediterranean fever (FMF), fertility is normal in treated patients. There is no abnormality of spermatogenesis under usual therapeutic doses of colchicine. The risk of early abortion is increased if inflammatory attacks occur during the pregnancy. It is recommended to continue colchicine treatment during the conception and the pregnancy. Careful follow-up must be organized, even more in patients with renal amyloidosis. Breast-feeding is allowed under colchicine with no risk for the baby. There is no indication for systematic amniocentesis in FMF patients treated with colchicine.

[Amyloidosis AA]. / Amylose AA.

Amyloidosis remains one of the three major types of multisystemic amyloidosis, with immunoglobulinic (AL) and hereditary varieties. Recently, however, its incidence has been decreasing in Western countries. Inflammatory disorders are currently the major causes of amyloid-associated (AA) amyloidosis; first of all it is rheumatoid arthritis, then ankylosing spondylarthropathy and auto-inflammatory syndromes. Some tumours may lead to amyloidosis, including Castleman's disease. Complete surgery can result in regression of amyloid. It is not exactly known why some patients develop a progressive amyloidosis, whereas others do not. A permanent acute phase response, ideally evaluated with serial measurement of serum protein SAA, the precursor of the AA protein deposited in tissues, seems to be a prerequisite to the development of inflammatory (AA) amyloidosis. Genetic factors have however been recently emphasized. Nephropathy is the main clinical manifestation of amyloidosis. Serial search for proteinuria and serum creatinine measurement remain quite useful for detecting the first sign of renal impairment during chronic inflammatory disorders. A thorough diagnosis of AA amyloidosis deserves to gather whole clinical and pathological data, including immunohistochemistry. Some pitfalls exist and another type of amyloidosis should not be misdiagnosed as the AA variety. Ultimate renal failure and gut involvement with denutrition account for the persistent poor prognosis of AA amyloidosis. Current treatment aim at decreasing the inflammatory response; drugs targeting other steps of amyloid deposition are currently developed.

[New issues in adult sickle sell disease]. / Problèmes cliniques emergents chez l'adulte drépanocytaire.

Over the past 20 years, early medical treatment has significantly increased the life expectancy of children with sickle cell disease. More than 90% of patients now reach the age of 20, and the median life expectancy of sickle cell patients is at least 50 years in countries with advanced healthcare systems. The increase in the number of adults with homozygous sickle cell disease is accompanied by increasingly frequent chronic osteoarticular, renal, cardiorespiratory, ocular, cutaneous and cerebral complications. Pregnancy is a high-risk situation for the mother and child The efficacy and safety of hydroxyurea and long-term blood transfusions in adults with sickle cell disease are currently under investigation.

Auto inflammatory syndromes: Diagnosis and treatment.

Hereditary recurrent fevers are rare genetic diseases characterized by apparently spontaneous attacks of inflammation. They include familial Mediterranean fever (FMF); tumor necrosis factor (TNF) receptor periodic syndrome (TRAPS); hyperimmunoglobulinemia D syndrome (HIDS); and hereditary periodic fevers related to mutations in the CIAS1 (cold induced autoinflammatory syndrome 1) gene, such as Muckle-Wells syndrome, familial cold urticaria, and CINCA/NOMID (chronic infantile neurological cutaneous and articular/neonatal-onset multisystemic inflammatory disease). Musculoskeletal manifestations are common. They may occur as features of the acute inflammatory attacks or persist for longer periods. Among them, the most common include arthritis of the large and medium-sized joints in FMF and CINCA, arthralgia in HIDS, and myalgia or pseudo-fasciitis in TRAPS. The outcome is usually favorable, although joint destruction may develop in CINCA or at the hip in FMF. The recurrent bouts of fever and accompanying clinical manifestations suggest the diagnosis, which can be confirmed by genetic testing. Among differential diagnoses, infection should be considered routinely. The treatment of the inflammatory attacks is nonspecific. New pathophysiological insights have led to the development of promising maintenance treatments designed to reduce the number and severity of the inflammatory attacks and to diminish the risk of secondary amyloidosis.

Lofgren syndrome and peritoneal involvement by sarcoidosis: case report.

OBJECTIVE: An unusual case of a patient with Löfgren syndrome peritoneal involvement by sarcoidosis. PATIENT AND METHODS: A 36-year-old woman presented with Löfgren syndrome and an increase in liver enzyme levels. An abdominal CT scan showed multiple nodules on the peritoneum mimicking peritoneal carcinomatosis. Laparoscopy was conducted with biopsy of the peritoneal nodules. RESULTS: Biopsy specimens from the peritoneum, liver, and bronchi showed noncaseating granulomas, and the search for tuberculosis was negative. Clinical and biological features resolved within 6 months, without therapy with steroids, while a thoracic CT scan as well as an abdominal CT scan showed no change. CONCLUSION: To our knowledge, this is the first reported case of peritoneal sarcoidosis associated with Löfgren syndrome. A longer follow-up will, however, be required to assess the chronicity of the disease.

Successful treatment with rituximab in a patient with mental nerve neuropathy in primary Sjögren's syndrome.

We present the case of a 79-year-old female patient with chronic obstructive pulmonary disease on home oxygen therapy who was diagnosed as having Sjögren's syndrome with arthralgias and painful sensory neuropathy. She subsequently developed bilateral numb chin syndrome. Because of refractory and disabling symptoms under high corticosteroids and severe chronic obstructive pulmonary disease, we decided to treat her with rituximab rather than immunosuppressants. This resulted in significant subjective improvement in sicca syndrome while arthalgias, distal and chin paresthesias resolved completely. To our knowledge this is the first description of such a case.

Transient monoclonal gammopathy in a patient with Bartonella quintana endocarditis.

Monoclonal gammopathy has been reported rarely in association with infectious diseases. Viral infection has been the most frequently reported. We report a case of Bartonella quintana endocarditis in a 45-year-old homeless male associated with a monoclonal IgG kappa gammopathy. The gammopathy disappeared after 8 months of antibiotics while the Bartonella antibody titre was decreasing. This correlation suggests a causative role for B. quintana for the monoclonal gammopathy. To the best of our knowledge, this the first report of monoclonal gammopathy in the course of B. quintana infection.

Systemic mastocytosis: predictable factors of poor prognosis present at the onset of the disease.

Systemic mastocytosis (SM) refers to a group of heterogeneous diseases that can be divided into indolent SM, for which prognosis is favorable, and malignant SM, which has a poor prognosis. While the diagnosis of SM is often a challenge since clinical and biological abnormalities are not specific, prognosis is even more difficult to predict. Thus, we aimed to highlight predictable factors in a cohort of 28 cases of SM. Among the 13 women and 15 men studied were 7 patients who had an aggressive form of SM that ultimately led to death in 3 of them. We found common characteristics among these seven patients. First, they were older when the first symptoms appeared and when the diagnosis was confirmed. Second, ascitis, lymphadenopathy, anemia, and thrombocytopenia were significantly more frequent, while cutaneous lesions and flush were less frequent. Moreover, general symptoms, gastrointestinal disorders, neutropenia, and coagulation abnormalities also seemed to characterize this group of patients. Understanding the factors that predict SM is essential in order to provide patients with the malignant form of the disease with specific treatments.

Adult Kawasaki disease: report of two cases and literature review.

OBJECTIVES: To describe 2 cases of adult Kawasaki Disease (KD) and to review the medical literature to better define the epidemiological, clinical, laboratory, histopathological, cardiovascular, and therapeutic aspects of adult KD compared with pediatric KD. METHODS: Report of 2 cases, and review of the literature using a Medline search from 1967 to June 2003. RESULTS: Including our 2 cases, there are 57 reports of adult KD, 74% among patients aged 18 to 30 years. Nine cases of KD associated with human immunodeficiency virus (HIV) infection were described, suggesting that an immunocompromised state may predispose to this syndrome. The incidence of specific diagnostic criteria was roughly similar in adults and in children. However, cheilitis, meningitis, and thrombocytosis were observed in a larger percentage of children, while arthralgia, adenopathy, and liver function abnormality were more common in adults. Although adult KD often was diagnosed after the acute phase, when a significant beneficial effect from gammaglobulin infusion could not be expected, this treatment did appear to shorten the course of the disease. Coronary aneurysms were less frequent in adults than in children. Prognosis was more favorable in adults, with less cardiovascular complications and no deaths. CONCLUSIONS: Adult KD is a rare condition, which may go unrecognized. Other known disease processes with similar clinical presentations such as hypersensitivity drug reaction and toxic shock syndrome must be ruled out. For adult KD, exclusion criteria such as absence of hypotension, visceral impairment, staphylococcal infection, and any drug able to induce a drug hypersensitivity reaction are suggestive of the diagnosis, in the presence of the inclusion criteria, rash, conjunctival effusion, oropharynx changes, extremity changes, or adenopathy.

Effectiveness of colchicine in a case of recurrent compressive rheumatoid pericarditis.

Survival is impaired in rheumatoid pericarditis complicated by cardiac compression by either tamponade or constriction. Conventional therapy with non-steroidal anti-inflammatory agents and glucocorticoids is frequently ineffective in reversing severe cardiac impairment and/or in preventing recurrences. Colchicine, an effective and safe treatment of idiopathic and post-viral pericarditis, has not been studied in rheumatoid pericarditis. We describe the case of a 44-year-old woman with a 1-year history of rheumatoid arthritis who developed rheumatoid pericarditis complicated with tamponade. Pericardiocentesis relieved the symptoms, but pericarditis recurred at a high dose of prednisone of 70 mg/day. Colchicine at a dose of 1 mg/day prevented recurrences and had a significant sparing effect on steroids, which were reduced to 6 mg/day. This is the second case report describing the effectiveness of colchicine therapy in rheumatoid pericarditis complicated with tamponade. These cases suggest that colchicine should be considered in the treatment of rheumatoid pericarditis.