RESUMO
The patient partnership is a new approach in which the patient, through his knowledge acquired from his experience with the disease, is a stakeholder in decisions about care, the organization of the health system and choices in terms of health policy. A team from the Blois hospital (41) was able to share the experience of a patient partnership during the analysis of a complex medical situation with a young man with sickle cell disease in a vaso-occlusive crisis. She reports here this new and enriching experience.
Assuntos
Anemia Falciforme , Humanos , Masculino , Anemia Falciforme/terapiaRESUMO
The role of mast cells has been questioned in sickle cell disease (SCD). We performed a prospective study evaluating plasma histamine and tryptase levels in a cohort of paediatric and adult patients, in steady state (n = 132) and during vaso-occlusive crisis (VOC) (n = 121). Histamine level was elevated in 18% of patients in steady state and in 61% during VOC. Median histamine level was significantly higher during VOC than in steady state (24·1 [7·0-45·0] vs 9·6 [6·2-14·4] nmol/l, P < 0·0001). Tryptase level was slightly increased during VOC without reaching pathological values. These results suggest a role of mast cell activation in SCD pathophysiology.
Assuntos
Anemia Falciforme/sangue , Histamina/sangue , Adulto , Anemia Falciforme/complicações , Anemia Falciforme/patologia , Criança , Estudos de Coortes , Feminino , Humanos , Masculino , Mastócitos/metabolismo , Estudos Prospectivos , Triptases/sangue , Doenças Vasculares/sangue , Doenças Vasculares/etiologiaRESUMO
Cardiac involvement is well characterized in sickle cell anaemia (SCA) but cardiac features associated with Haemoglobin SC (HbSC) disease are mostly unknown. We compared 60 patients with HbSC disease (median age 31 years, 25 men) to 60 SCA patients and 60 controls matched for age and gender. Left ventricular ejection fraction (LVEF), left ventricle (LV) mass index (LVMi), cardiac index and peak tricuspid regurgitation velocity (TRV) were measured using echocardiography. LV filling pressures were assessed using the ratio of early diastolic transmitral velocity to tissue velocity (E/e' ratio). The LVMi was higher in both genotypes compared to controls. However, whereas LV hypertrophy was observed only in 3(5%) HbSC patients, this condition was diagnosed in 27(45%) SCA patients (P < 0·0001). While cardiac index and TRV were similar in HbSC compared to controls, SCA patients exhibited elevated cardiac output and TRV. LVEF was similar in the 3 groups. However, both genotypes had a higher E/e' ratio compared to controls. Cardiac involvement in SCA was related to anaemia and haemolysis, while LV diastolic dysfunction and TRV in HbSC disease patients were related to arterial hypertension and overweight comorbidities. In summary, cardiac involvement and its determinants are different in HbSC disease and SCA. Patient's genotype should be considered with regard to the echocardiographic indications and findings.
Assuntos
Ecocardiografia , Genótipo , Ventrículos do Coração , Doença da Hemoglobina SC , Volume Sistólico , Insuficiência da Valva Tricúspide , Adulto , Feminino , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/fisiopatologia , Doença da Hemoglobina SC/complicações , Doença da Hemoglobina SC/diagnóstico por imagem , Doença da Hemoglobina SC/genética , Doença da Hemoglobina SC/fisiopatologia , Humanos , Masculino , Insuficiência da Valva Tricúspide/diagnóstico por imagem , Insuficiência da Valva Tricúspide/etiologia , Insuficiência da Valva Tricúspide/genética , Insuficiência da Valva Tricúspide/fisiopatologiaRESUMO
The management of sickle cell nephropathy (SCN) at an early stage is an important issue to prevent renal and cardiovascular morbidity and mortality. This study aimed to evaluate in this population, whether angiotensin converting enzyme inhibitors (ACEIs) treatment could exert a cardio-renal protection in a SCN cohort. Forty-two SCN patients (urine albumin:creatinine ratio (ACR) > 10 mg/mmol) were treated with ACEIs for 6 months, then evaluated for ACR, measured glomerular filtration rate (mGFR) together with haematological and cardiovascular parameters. A 1-month washout was also performed in order to differentiate short- and long-term ACEIs effects. A decrease in ACR baseline value (>30%) was detected in 62% of cases (mean ACR: 46·4 ± 7·6 and 26·4 ± 3·9 mg/mmol at baseline and 6 months respectively; P = 0·002), whereas mGFR values were unchanged. ACR decrease was detected at 1 month following ACEI initiation (32·9 ± 6·9, P = 0·02) with a persistent trend after withdrawal (P = 0·08). ACEIs also decreased diastolic blood pressure (P = 0·007), pulse wave velocity (P = 0·01), tricuspid regurgitation velocity (TRV; P = 0·04), asymmetric dimethyl arginine (ADMA: P = 0·001) and haemoglobin (P = 0·01) while conventional haemolytic biomarkers were unchanged. Our data suggest that ACEIs are safe and effective at decreasing albuminuria in sickle cell patients with a beneficial effect on specific mortality risk factors, such as TRV and asymmetric dimethyl arginine.
Assuntos
Albuminúria/prevenção & controle , Anemia Falciforme/tratamento farmacológico , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Adulto , Albuminúria/etiologia , Albuminúria/fisiopatologia , Anemia Falciforme/complicações , Anemia Falciforme/fisiopatologia , Inibidores da Enzima Conversora de Angiotensina/farmacologia , Arginina/análogos & derivados , Arginina/sangue , Biomarcadores/sangue , Pressão Sanguínea/efeitos dos fármacos , Creatinina/urina , Feminino , Taxa de Filtração Glomerular/efeitos dos fármacos , Humanos , Masculino , Análise de Onda de Pulso , Sistema Renina-Angiotensina/efeitos dos fármacos , Sistema Renina-Angiotensina/fisiologia , Insuficiência da Valva Tricúspide/etiologia , Insuficiência da Valva Tricúspide/prevenção & controleAssuntos
Anemia Falciforme , Serviço Hospitalar de Emergência , Hospitalização , Transtornos Mentais , Adulto , Anemia Falciforme/complicações , Anemia Falciforme/psicologia , Anemia Falciforme/terapia , Estudos de Coortes , Feminino , Humanos , Masculino , Transtornos Mentais/etiologia , Transtornos Mentais/terapiaRESUMO
OBJECTIVE: Familial Mediterranean fever (FMF) is an autosomal-recessive autoinflammatory disease due to mutations in MEFV. Descriptions of disease manifestations among patients carrying a single mutated MEFV allele are becoming more frequent, although no data are available on the long-term outcome. We undertook this study to assess the accuracy of clinical diagnosis in children carrying a single mutated MEFV allele with symptoms of recurrent autoinflammatory disorder. METHODS: We performed a retrospective single-center study of 33 patients with autoinflammatory disorders age <6 years at disease onset with 1 mutated MEFV allele. The phenotype of the patients was investigated in detail, and the clinical picture and outcome of 18 patients with an initial FMF diagnosis according to current clinical criteria were compared to those of 25 homozygous or compound heterozygous FMF patients. RESULTS: No major differences in presenting signs or initial response to colchicine were observed between patient groups. During followup, heterozygotes had a milder disease course compared to homozygotes and were less prone than homozygotes to experience new clinical signs of FMF. At puberty, clinical signs of FMF completely disappeared in 5 of 18 heterozygotes, allowing them to discontinue colchicine without recurrence of symptoms or increases in inflammatory marker levels. CONCLUSION: Our data suggest that the clinical diagnosis of FMF in very young heterozygous children should be made with caution. At this young age they can present with an FMF-like disease-similar to that seen in patients carrying 2 mutated alleles-that is not necessarily predictive of life-long illness.
Assuntos
Febre Familiar do Mediterrâneo/diagnóstico , Triagem de Portadores Genéticos , Adolescente , Criança , Pré-Escolar , Febre Familiar do Mediterrâneo/genética , Heterozigoto , Homozigoto , Humanos , Mutação , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder, for which systemic AA amyloidosis is the major complication revealed most of the time by renal abnormalities. Current treatment is daily colchicine that prevents both recurrent inflammatory attacks and amyloidosis deposition in most patients. However, some patients still develop amyloidosis and renal failure. Functional studies suggest that interleukin (IL)-1 is implicated in the inflammatory reaction in FMF and therefore, IL-1 inhibitors could be a new approach to treat FMF. The aim of this series study was to evaluate anakinra in patients with FMF complicated with amyloidosis and renal failure. METHODS: We studied a series of adult patients with FMF complicated with amyloidosis and treated with anakinra in one reference centre were reviewed. A search for published patients with FMF associated amyloidosis treated with anakinra was performed by screening PubMed. RESULTS: We report four cases of patients with FMF-associated amyloidosis treated with anakinra and discuss the clinical pertinence of its use in these particular clinical settings. CONCLUSIONS: Anakinra has a strong effect on both inflammatory attacks and general status in patients with FMF-associated amyloidosis. It may contribute to changing the prognosis of these patients. Long-term studies are needed to appreciate the effect of anakinra or other IL-1 inhibitors on the natural history of amyloidosis in these patients.
Assuntos
Amiloidose/etiologia , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/tratamento farmacológico , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Interleucina-1/antagonistas & inibidores , Falência Renal Crônica/etiologia , Adulto , Febre Familiar do Mediterrâneo/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Resultado do TratamentoRESUMO
BACKGROUND: Acute chest syndrome (ACS) is the main cause of morbi-mortality in patients with sickle-cell disease in the intensive care unit (ICU). ACS definition encompasses many types of lung damage, making early detection of the most severe forms challenging. We aimed to describe ACS-related lung ultrasound (LU) patterns and determine LU performance to assess ACS outcome. RESULTS: We performed a prospective cohort study including 56 ICU patients hospitalized for ACS in a tertiary university hospital (Paris, France). LU and bedside spirometry were performed at admission (D0) and after 48 h (D2). Complicated outcome was defined by the need for transfusion of ≥ 3 red blood cell units, mechanical ventilation, ICU length-of-stay > 5 days, or death. A severe loss of lung aeration was observed in all patients, predominantly in inferior lobes, and was associated with decreased vital capacity (22 [15-33]% of predicted). The LU Score was 24 [20-28] on D0 and 20 [15-24] on D2. Twenty-five percent of patients (14/56) had a complicated outcome. Neither oxygen supply, pain score, haemoglobin, LDH and bilirubin values at D0; nor their change at D2, differed regarding patient outcome. Conversely, LU re-aeration score and spirometry change at D2 improved significantly more in patients with a favourable outcome. A negative LU re-aeration score at D2 was an independent marker of severity of ACS in ICU. CONCLUSIONS: ACS is associated with severe loss of lung aeration, whose resolution is associated with favourable outcome. Serial bedside LU may accurately and early identify ACS patients at risk of complicated outcome.
RESUMO
INTRODUCTION: Monitoring SAA level in attack-free FMF patients is recommended in order to adjust colchicine dose, and minimize the risk of AA amyloidosis. In countries where this test is not available, C-reactive protein (CRP), another acute phase reactant, is used instead. However, CRP is low and SAA is increased in some patients and vice versa. OBJECTIVES: To determine the threshold of CRP corresponding to SAA<10mg/L in patients with FMF and to assess their concordance at the patient level. PATIENTS AND METHODS: Consecutive FMF patients in attack-free period and no other cause of intermittent inflammation including infections were recruited during their regular visits in the French reference center for FMF. Demographic and genetic data were recorded; CRP and SAA were tested simultaneously. The threshold value of CRP corresponding to 10mg/L for SAA was determined and the concordance between the two markers was assessed with Cohen's kappa index. RESULTS: 399 samples were obtained from 218 patients, mean age of 27years (33% under 18years old), 55% of female, from Sephardic Jewish origin in 71%. MEFV mutation was M694V homozygous or compound heterozygous in 52%, and simple heterozygous in 18%. Six patients had AA amyloidosis. The appropriate CRP threshold was found to be 5mg/L in children and 8.75mg/L in adults. Global agreement with SAA<10mg/L was 84% [95% confidence interval: 82 to 86%], leading to a kappa index at 0.62 [95% confidence interval: 0.57 to 0.68]. CONCLUSION: CRP<5mg/L in FMF children or 8.75mg/L in FMF adults during attack-free periods might be a convenient substitute to guide therapeutic decisions when SAA is unavailable.
Assuntos
Proteína C-Reativa/metabolismo , Febre Familiar do Mediterrâneo/sangue , Proteína Amiloide A Sérica/metabolismo , Adolescente , Adulto , Criança , Intervalo Livre de Doença , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/epidemiologia , Feminino , Humanos , Masculino , Adulto JovemRESUMO
OBJECTIVES: Familial mediterranean fever (FMF) is the most common monogenic autoinflammatory disease. Hidradenitis suppurativa (HS) is an inflammatory cutaneous disease. Those diseases can occur simultaneously among the same individual. Our objective was to describe the features of patients displaying both FMF and HS. METHODS: We screened the French adult FMF reference center for FMF patients with HS. RESULTS: Six patients out of 151 (4%) with a median age of 36 years old were concerned. Among them, FMF was symptomatic at a median age of 11.5years old and colchicine was introduced at a median age of 20.5years old. HS was diagnosed at a median age of 31.5years old. An elderly patient displayed AA amyloidosis in the outcome of FMF, with a late diagnosis of HS, with response to anakinra. There was no temporal relation between FMF and HS attacks. Some patients had a persistent inflammatory syndrome under treatment. CONCLUSION: FMF and HS are both inflammatory diseases involving young patients, with HS possibly being an autoinflammatory disease. Although their association seems to be fortuitous, both can induce an important inflammation state that could lead to AA amyloidosis and require a close monitoring of clinical signs and acute-phase reactants. Anakinra was successful in treating the only patient with both HS, FMF and amyloidosis.
Assuntos
Febre Familiar do Mediterrâneo/complicações , Hidradenite Supurativa/complicações , Adulto , Idoso , Febre Familiar do Mediterrâneo/diagnóstico , Feminino , Hidradenite Supurativa/diagnóstico , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Inflammasomes are multiprotein complexes nucleating around an NLR (Nucleotide-binding domain and Leucine-rich Repeat containing protein), which regulate the secretion of the pro-inflammatory interleukin (IL)-1ß and IL-18 cytokines. Monocytes and macrophages, the main cells expressing the inflammasome genes, adapt to their surrounding microenvironment by a phenotypic polarization towards a pro-inflammatory M1 phenotype that promotes inflammation or an anti-inflammatory M2 phenotype important for resolution of inflammation. Despite the importance of inflammasomes in health and disease, little is known about inflammasome gene expression in relevant human cells and the impact of monocyte and macrophage polarization in inflammasome gene expression. We examined the expression of several members of the NLR, caspase and cytokine family, and we studied the activation of the well-described NLRP3 inflammasome in an experimental model of polarized human primary monocytes and monocyte-derived macrophages (M1/M2 phenotypes) before and after activation with LPS, a well-characterized microbial pattern used in inflammasome activation studies. Our results show that the differentiation of monocytes to macrophages alters NLR expression. Polarization using IFN-γ (M1 phenotype), induces among the NLRs studied, only the expression of NOD2. One of the key results of our study is that the induction of NLRP3 expression by LPS is inhibited in the presence of IL-4+IL-13 (M2 phenotype) at both mRNA and protein level in monocytes and macrophages. Unlike caspase-3, the expression of inflammasome-related CASP1 (encodes caspase-1) and CASP4 (encodes caspase-4) is up-regulated in M1 but not in M2 cells. Interestingly, the presence of LPS marginally influenced IL18 mRNA expression and secretion, unlike its impact on IL1B. Our data provide the basis for a better understanding of the role of different inflammasomes within a given environment (M1 and M2) in human cells and their impact in the pathophysiology of several important inflammatory disorders.
Assuntos
Inflamassomos/imunologia , Macrófagos/imunologia , Monócitos/imunologia , Proteína 3 que Contém Domínio de Pirina da Família NLR/imunologia , Proteínas NLR/imunologia , Proteína Adaptadora de Sinalização NOD2/imunologia , Caspases/genética , Caspases/imunologia , Polaridade Celular , Células Cultivadas , Citocinas/genética , Citocinas/imunologia , Regulação da Expressão Gênica , Humanos , Inflamassomos/genética , Lipopolissacarídeos/imunologia , Macrófagos/citologia , Macrófagos/metabolismo , Monócitos/citologia , Monócitos/metabolismo , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Proteínas NLR/genética , Proteína Adaptadora de Sinalização NOD2/genéticaAssuntos
Anemia Falciforme/complicações , Antineoplásicos/uso terapêutico , Arteriopatias Oclusivas/prevenção & controle , Leucemia Mielogênica Crônica BCR-ABL Positiva/complicações , Piperazinas/uso terapêutico , Inibidores de Proteínas Quinases/uso terapêutico , Pirimidinas/uso terapêutico , Adulto , Arteriopatias Oclusivas/etiologia , Benzamidas , Seguimentos , Humanos , Mesilato de Imatinib , Cooperação do Paciente , RecidivaRESUMO
Lactate dehydrogenase (LDH) activity is elevated in many pathological states. Interest in LDH activity in sickle cell disease (SCD) has developed out of an increased comprehension of the pathophysiological process and the clinical course of the disease. Elevated LDH activity in SCD comes from various mechanisms, especially intravascular hemolysis, as well as ischemia-reperfusion damage and tissular necrosis. Intravascular hemolysis is associated with vasoconstriction, platelet activation, endothelial damage, and vascular complications. LDH has been used as a diagnostic and prognostic factor of acute and chronic complications. In this review we have evaluated the literature where LDH activity was examined during steady-state or acute conditions in SCD.
Assuntos
Anemia Falciforme/enzimologia , L-Lactato Desidrogenase/metabolismo , Anemia Falciforme/diagnóstico , Hemólise , HumanosRESUMO
We report on a familial Mediterranean fever (FMF) patient homozygous for p.M694V in the MEFV gene who developed chronic myelomonocytic leukemia (CMML) leading to an uncontrolled and fatal inflammatory syndrome. Plasma levels of IL-6 and IL-18 were found to be very high, as compared to healthy controls and CMML-free FMF patients.Our study unveils the interplay between two different disorders involving the same target cells, suggesting that in myelodysplasia with inflammatory manifestations, mutations in genes causing autoinflammatory syndromes, like MEFV, can be present and thus could be sought. Early chemotherapy with interleukin inhibitors could be proposed in such unusual situations.
Assuntos
Febre Familiar do Mediterrâneo/imunologia , Inflamação/etiologia , Inflamação/imunologia , Leucemia Mielomonocítica Crônica/complicações , Leucemia Mielomonocítica Crônica/imunologia , Idoso de 80 Anos ou mais , Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/sangue , Humanos , Inflamação/sangue , Interleucina-18/sangue , Interleucina-6/sangue , Leucemia Mielomonocítica Crônica/sangue , Masculino , Mutação , PirinaRESUMO
BACKGROUND: Left ventricular diastolic dysfunction (LVDD) is common in sickle cell anaemia (SCA). Left atrial (LA) size is widely used as an index of LVDD; however, LA enlargement in SCA might also be due to chronic volume overload. AIM: To investigate whether LA size can be used to diagnose LVDD in SCA. METHODS: One hundred and twenty-seven adults with stable SCA underwent echocardiographic assessment. LA volume was measured by the area-length method and indexed to body surface area (LAVi). Left ventricular (LV) filling pressures were assessed using the ratio of early peak diastolic velocities of mitral inflow and septal annular mitral plane (E/e'). Using mitral inflow profile and E/e', LV diastolic function was classified as normal or abnormal. LAVi>28mL/m(2) was used as the threshold to define LA enlargement. RESULTS: The mean age was 28.6±8.5years; there were 83 women. Mean LAVi was 48.3±11.1mL/m(2) and 124 (98%) patients had LA dilatation. In multivariable analysis, age, haemoglobin concentration and LV end-diastolic volume index were independent determinants of LAVi (R(2)=0.51; P<0.0001). E/e' was not linked to LAVi (P=0.43). Twenty patients had LVDD; when compared with patients without LVDD, they had a similar LAVi (52.2±14.7 and 47.5±10.2mL/m(2), respectively; P=0.29). Receiver operating characteristics curve analysis showed that LAVi could not be used to diagnose LVDD (area under curve=0.58; P=0.36). CONCLUSION: LA enlargement is common in SCA but appears not to be linked to LVDD. LAVi in this population is related to age, haemoglobin concentration and LV morphology.
Assuntos
Anemia Falciforme/complicações , Cardiomegalia/etiologia , Átrios do Coração , Disfunção Ventricular Esquerda/etiologia , Adulto , Anemia Falciforme/fisiopatologia , Cardiomegalia/fisiopatologia , Diástole , Feminino , Humanos , Masculino , Disfunção Ventricular Esquerda/diagnóstico , Disfunção Ventricular Esquerda/fisiopatologiaRESUMO
BACKGROUND AND OBJECTIVES: Very few studies report acid base disorders in homozygous patients with sickle cell anemia (SCA) and describe incomplete renal acidosis rather than true metabolic acidosis, the prevalence of which is unknown and presumably low. This study aimed to assess the prevalence of metabolic acidosis and to identify its risk factors and mechanisms. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: This study retrospectively analyzed 411 homozygous patients with SCA with a GFR ≥ 60 ml/min per 1.73 m(2), referred in a single center between 2007 and 2012. Acidosis and nonacidosis groups were compared for clinical and biologic data including SCA complications and hemolytic parameters. A subgroup of 65 patients with SCA, referred for a measured GFR evaluation in the setting of sickle cell-associated nephropathy, was further analyzed in order to better characterize metabolic acidosis. RESULTS: Metabolic acidosis was encountered in 42% of patients with SCA, with a higher prevalence in women (52% versus 27% in men; P<0.001). Several hemolytic biomarkers, such as lactate dehydrogenase, were different between the acidosis and nonacidosis groups (P=0.02 and P=0.03 in men and women, respectively), suggesting higher hemolytic activity in the former group. To note, fasting urine osmolality was low in the whole study population and was significantly lower in men with SCA in the acidosis group (392 versus 427 mOsm/kg; P=0.01). SCA subgroup analysis confirmed metabolic acidosis with a normal anion gap in 14 patients, characterized by a lower urinary pH (P<0.02) and no increase in urinary ammonium. Serum potassium, plasma renin, and aldosterone were similar between the two groups and thus could not explain impaired urinary ammonium excretion. CONCLUSIONS: These results suggest that the prevalence of metabolic acidosis in patients with SCA is underestimated and related to impaired ammonium availability possibly due to an altered corticopapillary gradient. Future studies should evaluate whether chronic metabolic acidosis correction may be beneficial in this population, especially in bone remodeling.
Assuntos
Acidose/epidemiologia , Anemia Falciforme/epidemiologia , Homozigoto , Equilíbrio Ácido-Base , Acidose/sangue , Acidose/diagnóstico , Acidose/fisiopatologia , Acidose/urina , Adolescente , Adulto , Compostos de Amônio/urina , Anemia Falciforme/sangue , Anemia Falciforme/diagnóstico , Anemia Falciforme/genética , Biomarcadores/sangue , Biomarcadores/urina , Feminino , Hemólise , Humanos , Rim/fisiopatologia , Masculino , Paris/epidemiologia , Prevalência , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Adulto JovemRESUMO
INTRODUCTION: To define the characteristics of CF patients developing AA amyloidosis. METHODS: A 30-year retrospective survey conducted within the national French CF network to identify cases of CF associated with AA amyloidosis. RESULTS: Nine cases of AA amyloidosis were identified (CF prevalence in France is approximately 6000 patients) and sufficient data were collected in six. The clinical presentation was renal disease in four cases, a compressive goiter in one case, and epigastric pain in one case. Organ involvement included kidney disease in all cases (proteinuria, with a median age at onset of 24 years, 4 cases with nephrotic syndrome, 5 with renal failure); gastrointestinal (4 cases with duodenal ulcer); thyroid (2 cases); and hepatobiliary system (3 cases). The median age at diagnosis of CF was 6.5 years. Five patients had pancreatic insufficiency. All patients had chronic respiratory infections requiring intravenous antibiotics several times a year. Five patients have died, at a median age of 29 years and a median duration of 6 years after the onset of proteinuria. CONCLUSION: AA amyloidosis is a rare but morbid complication of CF. Renal involvement is predominant.
Assuntos
Amiloidose/etiologia , Fibrose Cística/complicações , Criança , Pré-Escolar , Fibrose Cística/epidemiologia , Coleta de Dados , Feminino , França , Humanos , MasculinoRESUMO
Familial Mediterranean fever is an autosomal-recessive autoinflammatory disorder more commonly observed in Mediterranean populations and characterized by recurrent episodes of fever, serositis, myalgia and arthritis. There is rarely any association with spondyloarthritis. The most important long-term complication is progressive systemic type AA amyloidosis. Treatment with colchicine is effective in reducing the frequency of attacks and prevents the development of amyloidosis. However, 5% of cases are considered resistant to colchicine. We here describe the case of a 39-year-old man, with a history of arthritis, arthralgias, and sacroiliitis in the course of a familial Mediterranean fever. He is homozygous for the M694I mutation in the MEFV gene. He subsequently developed myositis of the right quadriceps muscle confirmed by magnetic resonance imaging, electromyography and histology. He had frequent and severe arthralgias, despite colchicine, then etanercept and adalimumab, impairing his quality of life. The patient was successfully treated with the IL-1 receptor antagonist anakinra with a dramatic improvement of muscular and articular symptoms. To our knowledge, our patient is the first patient with coexisting FMF, spondyloarthritis and myositis responding to anakinra treatment. Moreover this is the second case in the literature of myositis associated with familial Mediterranean fever.