Screening for toxic retinopathy due to antimalarial drugs in Tunisia.

INTRODUCTION: Toxic retinopathy due to antimalarial drugs is characterized by structural anomalies associated with severe, irreversible visual loss. The advantage of ophthalmologic monitoring is to detect these anomalies at an asymptomatic, preclinical stage, so that the recommended dose can be adjusted before the ophthalmologic manifestations appear. MATERIAL AND METHODS: Cross-sectional study carried out in the ophthalmology department of Habib Bourguiba University Hospital, Sfax, between August 2016 and February 2018. All patients treated in the internal medicine department of Hedi Chaker University Hospital with synthetic antimalarial drugs for at least 1 year were included. A complete ophthalmologic examination and specialized retinal testing (fundus autofluorescence, 10-2 automated visual field and swept source OCT) were performed for all patients. RESULTS: Fifty-six patients treated with antimalarial drugs were analyzed. The main indication was systemic lupus erythematosus (80.3%). Fifty-three patients (94.64%) were treated with hydroxychloroquine, and 3 patients (5.4%) with chloroquine. Thirteen patients (23.2%) exhibited signs of retinal toxicity, with fundus autofluorescence alterations in 8% of cases, fundus anomalies in 12.5% of cases, 10-2 automated visual field defects in 16% of cases, and SS-OCT alterations in 23.2% of cases. We did not find a statistically significant association between retinal toxicity, weight, age, sex and renal insufficiency (p values of 0.8, 0.6, 0.66 and 0.7 respectively). Furthermore, the association between the cumulative dose and retinal toxicity was statistically significant (p=0.02). The prevalence of toxic retinopathy was identified as 5% at 5 years, 25% at 10 years and 70% at 20 years. CONCLUSIONS: A better understanding of the risk factors for retinal toxicity is necessary when prescribing synthetic antimalarial drugs. Screening should be systematic. It should be based on a combination of functional and anatomic tests. The frequency of screening depends on the associated risk factors.

Familial lupus in Tunisia: a series of 14 families.

The relatively high prevalence of systemic lupus erythematosus (SLE) in familial cases supports genetic susceptibility to this disease. Although many advances have been made in the identification of new genes implicated in lupus pathogenesis, to date, there has been no large study of familial SLE. We report what we believe to be the first study of familial SLE in the North African population. The objectives of this study were to determine the main clinical and laboratory features of familial lupus and to compare them to sporadic lupus in a population of Tunisian patients. Fourteen families in which the diagnosis of lupus could be verified in at least two relatives were included in the study. All patients fulfilled four or more criteria defined by the American College of Rheumatology. Twenty-seven patients (23 females and 4 males) with familial SLE among a cohort of 253 SLE patients were found, resulting in a frequency of 10.67%. No significant differences were found between familial SLE cases and their controls in terms of sex ratio, mean age at onset and clinical and serological manifestations, which is consistent with the results of other series reported in the literature. Our results support the importance of carrying out more genetic studies within families of SLE in order to have a better understanding of the genetic and molecular mechanisms of the disease.

[Tocilizumab for refractory Takayasu arteritis with aortic aneurysm]. / Traitement par tocilizumab d'une artérite de Takayasu réfractaire avec anévrysme aortique.

Takayasu arteritis (TA) is a form of large vessel vasculitis (LVV) which affects the aorta and the main arteries. Many reports showed efficacy of biologic drugs (TNF α inhibitors and interleukin 6 inhibitors) in refractory TA cases. We report the case of a 46-year-old woman with refractory TA complicated by giant aortic aneurysm (AA) and severe hypertension, treated efficacy with tocilizumab (anti-interleukin 6 receptor monoclonal antibody).

[Rendu-Osler disease and recurrent thromboembolic venous disease]. / Maladie de Rendu-Osler et maladie veineuse thromboembolique récidivante.

Rendu-Osler-Weber syndrome is a rare systemic fibrovascular dysplasia, recognized by mucocutaneous telangiectasias, arteriovenous malformations, epistaxis and family history. Venous thromboembolic disease is a poor prognostic factor in this disease given the risk of increased bleeding caused by anticoagulant therapy. We report a new case of a 56-year-old patient with Osler disease who developed recurrent thromboembolic venous disease when anticoagulants were discontinued. According to a review of the literature, this association does not appear to be fortuitous and is a factor of disease severity.

Profil épidémiologique, clinique et valeur diagnostique des anticorps anti-Jo1 (anticorps anti-aminoacyl-t-RNA-synthétases). Etude rétrospective à propos d'une série de 22 patients

Propos : Notre objectif était de rapporter les caractéristiques épidémiologiques et cliniques de 22 patients avec anticorps anti-Jo1 positifs.Patients et méthodes : Etude rétrospective menée dans les services de Médecine interne et d'immunologie (Sfax-Tunisie) entre 2010 et 2016. Le dépistage des Anticorps Anti-Nucléaires (AAN) était réalisé par Immuno-Fluorescence Indirecte (IFI) sur cellules Hep2. Chaque sérum positif était testé par immunodot. Résultats : Vingt-deux patients ont été étudiés : 18 femmes et 4 hommes (âge moyen : 46 ans). Les principales manifestations cliniques étaient les signes rhumatologiques : 14 cas (63%), les signes généraux : 11 cas (50%), les manifestations musculaires : 8 cas (36%), les signes pleuro-pulmonaires : 8 cas (36%), les signes cutanés : 9 cas (45%), un phénomène de Raynaud : 2 cas (9%) et des mains de mécaniciens : 2 cas (9%). Le diagnostic d'une myosite de chevauchement était retenu chez 6 patients dont 4 avaient un Syndrome des Anti-Synthétases (SAS). Le diagnostic de maladies auto-immunes ou systémiques était retenu chez 9 malades. Le diagnostic de maladie non auto-immune était établi chez 7 patients. Tous les patients avaient des anti-Jo1 positifs associés avec l'anti- Ro52 (11 cas), l'anti-SSA (7 cas), l'anti-SSB (17 cas), l'anti-Sm (2 cas), l'anti-AND (1 cas), l'anti-centromère (3 cas) et l'anti Scl-70 (3 cas). Conclusion : Notre étude montre la rare prévalence des anticorps anti-Jo1, suggère l'intérêt de les rechercher devant un contexte évocateur et de façon systématique en cas de myosite ou d'atteinte pulmonaire interstitielle ou de fluorescence cytoplasmique des AAN

[Neonatal lupus and maternofetal transmission of anti-SSA/Ro and anti-SSB/La antibodies]. / Lupus néonatal et transmission materno-fœtale des anticorps anti-SSA/Ro et anti-SSB/La.

Neonatal lupus (NL) is a rare syndrome caused by placental transfer of maternal anti-SSA/Ro (60 and 52kDa) or anti-SSB/La antibodies. The aim of this study was to evaluate the clinical and biological profile of NL at the neonatal unit of Sfax, Tunisia, over a 10-year period. Six mother-NB pairs (two sets of twins and two sisters) had positive ANA by transplacental transmission during the study period. The ANA pattern was speckled and the NBs' sera titer was half that of their mothers'. Anti-SSA, anti-Ro52, and anti-SSB were found in 100%, 33%, and 50% of the mothers' sera, respectively. The transmission of anti-SSA was observed in four pregnancies out of six, anti-Ro52 in two pregnancies out of two, and anti-SSB in one pregnancy out of three. The patients' clinical records showed that two NBs had a congenital heart block: one with anti-SSA, whose mother had Sjögren syndrome, and another with anti-SSA, anti-SSB, anti-Ro52, and anti-mitochondrial antibodies (M2 type), whose mother had no diagnosis at the child's birth (cutaneous erythema and positive ANA with the same profile). Cutaneous signs (erythema, petechia) were described in three NBs out of six. The two sets of fraternal twins had cutaneous signs with the same ANA titer and profile (no anti-SSA transmission from their mother with lupus and anti-phospholipid syndrome). The two sisters' (two pregnancies 3 years apart) mother had Sjögren syndrome, one of them had heart block with positive anti-SSA, and the other was asymptomatic with anti-SSA and anti-Ro52. The same mother had a history of three pregnancies with two NBs who died of heart block.

Association study of MICA-TM and HLA-class I polymorphism with uveitis in South Tunisian population.

BACKGROUND: Uveitis refers to intraocular inflammation. The pattern of uveitis is largely influenced by a multitude of factors including genetic background. AIM: The purpose of our study was to identify the association between the polymorphism of the transmembrane region of MICA (MICA-TM) and uveitis in Tunisian patients with intraocular inflammation. PATIENTS AND METHODS: A total of 79 Tunisian patients and 123 healthy controls were enrolled in our study. HLA-class I phenotyping was performed by microlymphocytotoxicity complement dependent and MICA-TM was genotyped by a semiautomatic fluorescent-labelled PCR method, amplicons were analysed on ABI Prism 310 genotyper. Comparisons of allele frequencies between patients and controls, and between patients' subgroups were performed using SPSS 20.0. RESULTS: In our 79 patients, HLA-B27 showed a significant increased frequency when compared with healthy controls (P=0.003, 7.88 [95% IC=2.17-28.65]). The association was more significant when considering idiopathic anterior uveitis (P=0.00002, OR=11.65 [95% IC=3.06-45.17]). No MICA allele was significantly increased in uveitis groups compared to controls. In the idiopathic uveitis group, MICA-A4 was associated with late age of onset of disease (P=0.04). HLA-B51 and MICA-A6 were associated respectively with severe tyndall (P=0.008) and with the presence of synechiae (P=0.007). CONCLUSION: Some clinical features of uveitis may be influenced by specific MICA-TM alleles. In our South Tunisian population, MICA plays a disease modifying role, rather than being an important gene in the susceptibility for developing of uveitis.

Causes and outcome of hospitalisations in Tunisian patients with systemic lupus erythematosus.

OBJECTIVE: To describe the most common reasons of admission of Tunisian patients with systemic lupus erythematosus (SLE) and the outcomes of these hospitalisations. METHOD: The charts of patients with SLE who were hospitalised at our Department of Internal Medicine during a 2-year period from January 2011 to December 2012 were retrospectively reviewed, and the demographic characteristics, clinical and laboratory features, as well as all comorbidities, were collected. RESULTS: There were 128 episodes of hospitalisation of 87 patients with SLE. 25 patients (28.7%) were admitted twice or more. The median length of stay for all admissions was 11 days (2-76). The total number of days of hospitalisation was 1896 days, which represent 10.7% of the total number of days of hospitalisation in our department. The most common overall reason for hospitalisation was active SLE (55 events, 43%). In 29 patients, SLE was newly diagnosed during hospitalisation. Other causes of hospitalisation included assessment of the disease, infections (9.4%) and associated autoimmune disease (6.25%). Adverse drug reaction (3.1%) and thromboembolic events (1.25%) were uncommon causes of hospitalisations. There was a significant difference in length of stay between patients admitted with SLE flare and those admitted for non-SLE flare reasons (p<0.01). Four hospitalisations (3%) resulted in death. The principal cause of death was active SLE. CONCLUSIONS: Hospitalisation of patients with SLE is common in our department. Our study of this North African SLE population confirms the findings of previous studies suggesting that active SLE and infection remain the most common causes of hospitalisation of patients with SLE.

Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report.

Pachydermoperiostosis is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. We report the case of a patient with a complete form of pachydermoperiostosis with bilateral ptosis as presenting feature.

Altemeier operation for gangrenous rectal prolapse.

A stranguled rectal prolapse is a rare cause of intestinal occlusion. It requires emergency surgery. A patient who underwent emergency perineal proctectomy, the Altemeier operation, combined with diverting loop sigmoid colostomy is described. The postoperative course was uneventful, with an excellent final result after colostomy closure. The successful treatment of this patient illustrates the value of the Altemeier procedure in the difficult and unusual scenario of bowel incarceration.