Erdheim-Chester disease: A multisystem disease case illustration with rare manifestations and treatment challenges.

Erdheim-Chester disease is a rare multisystemic disease. A 50-year-old woman, presented with a recurrent pain and swelling of the left knee. Bone scintigraphy showed increased tracer uptake of peripheral skeleton. The computed tomography showed tissular infiltration in the retroperitoneum, around the vessels. Immunohistochemistry showed CD68 (+) and CD1a (-).

Particularities of infectious complications in systemic lupus erythematosus.

AIM: To describe characteristics of systemic lupus erythematosus (SLE) patients with infectious complications and to determine frequency, clinical and microbiological features and outcomes of reported infections. METHODS: This is a descriptive, retrospective study conducted over an 11-year period at the Internal Medicine Department La Rabta Hospital Tunis, collecting medical records of SLE patients who had experienced infectious complications. RESULTS: Fifty-six patients were included, consisting of 52 females and 4 males (gender ratio M/F= 0.07). The mean age at SLE diagnosis was 35±13.8 years. The mean duration of the disease was 4.8±3.1 years. A total of seventy-eight infections were documented. Infection revealed the disease in 12 patients (21%) and occurred after an average delay of 36 months [1-156 months] of SLE diagnosis. Forty-three patients (74%) were receiving corticosteroid therapy, associated in 37.5% of cases with immunosuppressive treatment. Urinary and pleuro-pulmonary infections were most common infectious sites. An infectious agent was identified in 59 cases (76%). Bacterial infections were the most common (76%), dominated by the enterobacteria pathogen agent. Viral infections (n=12) were mainly caused by varicella-zoster virus and cytomegalovirus. Five patients required intensive care. Twenty patients experienced a lupus flare during the infectious episode. The outcome was favorable in 52 (93%) patients. Three patients died, two due to septic shock caused by pulmonary infection in two cases and cutaneous infection in one patient. One patient died from a probable pulmonary embolism. CONCLUSION: Infectious complications are responsible for significant morbidity and mortality during SLE. Hence the importance of early diagnosis and adequate management.

Esophageal motor abnormalities on high-resolution manometry in patients with scleroderma.

BACKGROUND: Systemic sclerosis (SS) is an autoimmune disorder that may result in diverse esophageal motor disorders. Typical manometric disorders include decreased lower esophageal sphincter (LES) pressure, absent contractility and ineffective peristalsis. AIMS: The aims of the study were to assess esophageal motor abnormalities in SS patients using high resolution manometry and to evaluate clinical and endoscopic features that are associated with manometric findings. METHODS: Patients with SS who underwent esophageal high-resolution manometry (HRM) between December 2016 and August 2020 were enrolled in the study. Data regarding demographics and symptom frequency were obtained through a questionnaire. Chicago classification criteria (V3.0.) were used for defining esophageal dysmotility. RESULTS: A total of 49 patients were enrolled in the study. Median age was 56 ±13.4 years. High-resolution manometry showed that absent contractility (n= 24; 49%) and ineffective motility (n=14; 28.6%) were the most frequent motor abnormalities. One case of esophageal gastric junction (EGJ) outflow obstruction was observed in a female patient. A hypotensive LES was observed in 18 patients (36.7%). Absent contractility was associated with regurgitations (=0.013), and erosive esophagitis (p=0.003). CONCLUSION: Absent contractility and ineffective motility were the most common esophageal contractile patterns among our patients. Patients with absent contractility experienced more frequently regurgitations and had more often erosive esophagitis.

Pulmonary manifestations in antisynthetase syndrome.

INTRODUCTION: Pulmonary manifestations are frequent in patients with antisynthetase syndrome which is a particular form of inflammatory myopathies. AIM: The aim of this study is to describe clinical features and long term outcome of interstitial lung disease in these patients. METHODS: This is a retrospective descriptive study in an internal medicine department. Patients with antisynthetase syndrome hospitalized from 2000 to 2014 were collected. RESULTS: There were nine patients; five women and four men. The mean age at diagnosis was 54.4 ±11.2 years. Interstitial lung disease was observed in all cases and revealed the disease in five cases. The more frequent aspect in high resolution computer thoracic scan was ground-glass opacities (n=8). Traction bronchiectasis and septal thickening were noted each one, in five cases. Honeycombing was observed in one case. Restrictive syndrome was noted in 4/4 cases. All patients received corticosteroids. Two patients were treated with methotrexate for myositis. Intravenous cyclophosphamide was used in five patients (at diagnosis for severe interstitial lung disease in three cases and after pulmonary function worsening in two other cases). Improvement was noted in seven patients. Two patients died after pulmonary symptom worsening and respiratory insufficiency. CONCLUSION: Interstitial lung disease in patients with antisynthetase syndrome may have a poor prognosis and should be treated at time. Altough the optimal therapy was not clearly established, corticosteroids are considered to be the first line therapy. Immunosuppressive agents as cyclophosphamide, azathioprine or methotrexate may be used in some cases.

Central Retinal Vein Occlusion Revealing Coeliac Disease.

INTRODUCTION: Thrombosis has been widely reported in coeliac disease (CD) but central retinal vein occlusion (CRVO) is rarely described. CASE PRESENTATION: A 27-year-old woman presented with acute visual loss and was diagnosed with CRVO. Her protein S and protein C levels were low and CD was diagnosed on the basis of endoscopic, immunological and histological results. A gluten-free diet resulted in favourable evolution. CONCLUSION: CD should be considered in young patients with thrombosis, especially if in an unusual location. Treatment is based on a gluten-free diet. LEARNING POINTS: Coeliac disease (CD) should be considered in young patients with central retinal vein occlusion (CRVO).Several mechanisms can cause thrombosis in CD.CRVO in CD is often reversible with a gluten-free diet.

Pellagra in a patient with primary Sjögren's syndrome.

A 27-year-old woman presented with persistent dryness of the mouth and eyes. She presented with permanent photodistributed rash involving the face and distal extremities. Laboratory tests showed positive Sjögren's syndrome (SS)-A and SS-B antibodies. Histological examination of minor salivary gland biopsy revealed inflammatory infiltration grade 4 according to Chisholm's classification. Skin biopsy showed acanthosis, hyperkeratosis in the epidermis and little inflammatory infiltrate in the dermis. There was an infiltration of CD4 T lymphocytes in the dermis. Based on the characteristics of the dermatitis and on a rapid response to niacin replacement, the diagnosis of pellagra was carried out. A complete resolution of the dermatological signs was obtained within 2 months. To the best of our knowledge, the association between primary SS and pellagra has never been reported. We emphasise the possible mechanisms of this association.

TULUP (TUnisian LUPus): a multicentric study of systemic lupus erythematosus in Tunisia.

AIM: Clinical features of systemic lupus erythematosus (SLE) have been described from different geographical regions around the world. However, data from North African countries, including Tunisia, are scarce. METHODS: The aim of this retrospective multicenter study was to analyze demographic, clinical, laboratory features and outcome of SLE in Tunisia throughout 14 Departments of Internal Medicine and to compare them with those of other ethnic and geographic groups. RESULTS: Seven hundred and forty-nine cases of SLE were recorded (American College of Rheumatology criteria) during a 17-year period (1989-2006). They were 676 women and 73 men with an average age at SLE onset of approximately 30.66 years. Our Tunisian patients were characterized by a high frequency of photosensitivity (67.6%), malar rash (68.7%), renal involvement (49.5%) and anti-Sm antibodies (44.8%). Infections were the main complications. Fifty-six (7.5%) patients died during the study period. CONCLUSION: Potential limitations and biases in our study need discussion. Specific recruitment of patients in tertiary referral centers may be the source of selection bias and adding to the frequency of moderate or even severe diseases. The therapeutic management and outcome monitoring were heterogeneous due to the fact that patients were evaluated by different doctors. However, this study remains the most representative of Tunisian SLE patients recruited from all parts of Tunisia.

Characteristics of neurological manifestations of Behçet's disease: a retrospective monocentric study in Tunisia.

OBJECTIVE: The aim of the present study was to analyze demographic, clinical and genetic features of Behçet's disease patients with neurological involvement through a monocentric study of a homogenous group of hospitalized patients observed in the same department and to compare them with those of other ethnic and geographic groups. METHODS: Four hundred and thirty Behçet's disease (BD) patients were retrospectively studied. Diagnosis of BD was made according to the international study group for Behçet's disease criteria. Patients with neurological findings suggestive of involvement of the nervous system by BD were further studied according to clinical examination, laboratory tests and neuroradiological investigations. RESULTS: Neurological involvement was observed in 121 patients (28.1%). The mean age at neuro-Behçet's disease (NBD) onset was 29.7 years. Average disease duration of BD before neurological manifestations onset was 6.4 years. Male to female ratio was 1.8. Of the 121 NBD patients, parenchymal involvement occurred in 74 patients (61%). Among them 26 (21.4%) presented with brainstem involvement, 24 (19.8%) with hemispheric involvement and 2 (1.6%) with spinal cord involvement. Non-parenchymal NBD occurred in 47 patients (39%). Involvement of the main vascular structures (Vasculo-NBD) was the most common non-parenchymal NBD lesion found in 35 patients (28.9%) consisting of cerebral vein thrombosis (CVT) in 24 cases and cerebral arterial thrombosis in 11 cases. Forty-nine (40.5%) patients with NBD have been followed-up for a median of 3 years (range 1-19 years). Forty-one of them recovered well without significant residual disability, 5 patients made no improvement and are left with severe neurological impairments and 3 died. Male gender and CNS parenchymal lesions occurrence were significantly associated with a poorer prognosis. CONCLUSION: Clinical and epidemiological features of NBD are various. In our Tunisian cohort of NBD patients the main characteristic features were male predominance, a relatively high prevalence of CVT, a low prevalence of intra-cranial hypertension and a significant lower frequency of HLA-B51 haplotype.

Contribution of Hla-B51 in the susceptibility and specific clinical features of Behcet's disease in Tunisian patients.

BACKGROUND: Many researchers have tried to investigate the association of HLA-B51 with the severity and the clinical features of BD with conflicting results. METHODS: We aimed at investigating the association of HLA-B51 with demographical and clinical manifestations as well as the severity of BD, by studying 178 native Tunisian BD patients, fulfilling the International Study group criteria for the BD classification recruited from the Department of Internal Medicine, Rabta Hospital in Tunis and compared with 125 native Tunisian healthy age and sex matching volunteers. RESULTS: According to our findings, the frequency of HLAB 51 was significantly higher in BD patients than in controls (p<0.001). Positive pathergy test (PPT) (p = 0.01) and retinal vasculitis (p = 0.045), were significantly more frequent in HLA B51(+) patients, while the frequency of arterial aneurysms (p = 0.009) and neurological involvement, especially the parenchymal involvement (p<0.001), were significantly and clearly higher in HLA B51(-) patients. The patients without HLA B51 had a significantly less severe disease (p = 0.001). Discussion/conclusion We conclude that HLA B51 is a predisposing marker for BD in our population as in most ethnic groups. It seems to be associated with a subgroup of BD patients characterized by a higher frequency of ocular involvement and PPT, but a lower frequency of arterial aneurysm and neurological involvement, and a less severe disease course.

Associations of vitamin D receptor gene polymorphisms FokI and BsmI with susceptibility to rheumatoid arthritis and Behçet's disease in Tunisians.

OBJECTIVES: Reports of immunomodulating effects of vitamin D suggest a need for examining allele and genotype frequencies of the vitamin D nuclear receptor gene (VDR) in patients with autoimmune diseases. T-helper-1 (Th1) counts in peripheral blood are increased in both rheumatoid arthritis (RA) and Behçet's disease (BD). We studied VDR polymorphisms in patients with these two diseases in Tunisia. METHODS: In 108 patients with RA, 131 patients with BD, and 152 controls, we studied FokI and BsmI VDR polymorphisms, using the restriction fragment length polymorphism technique. RESULTS: The FokI polymorphism alleles and genotype were significantly more common in the RA group than in the controls (P=0.001 and P=0.005, respectively). The FokI F allele and F/F genotype were significantly associated with BD (P=0.0003 and P=0.002, respectively). Furthermore, in the group with BD, the FokI polymorphism was significantly associated with the presence of vascular manifestations (P=0.006). In patients with RA, the FokI polymorphism was significantly associated with female gender (P=0.003). No significant associations were found between the Bsm1 polymorphism and RA or BD. CONCLUSION: The VDR F allele is associated with RA and BD in Tunisians.

Efficacy of low-dose oral sulodexide in the management of diabetic nephropathy.

BACKGROUND: Diabetic nephropathy (DN) is the single greatest cause of end-stage renal disease (ESRD). Without specific interventions, microalbuminuria (incipient nephropathy) gradually progresses to macroalbuminuria (overt nephropathy) within 10-15 years in about 80% of type 1 and 30% of type 2 diabetic patients, and to ESRD within further 20 years in about 75% and 20%, respectively. A primary alteration in DN consists of decreased concentration of glycosaminoglycans (GAGs) in the glomerular extracellular matrix. This evidence has prompted interest in using exogenous GAGs and specifically sulodexide in DN treatment. PATIENTS AND METHODS: In this uncontrolled multicenter study, diabetic patients with albumin excretion rate (AER) >or=30 mg/24 hours were treated with oral sulodexide 50 mg/day for 6 months, while receiving concomitant medication as required. Two hundred thirty-seven patients (54% males and 46% females, mean age 55 years, mean diabetes duration 11 years) were evaluated; 89% had type 2 and 11% type 1 diabetes mellitus, 67% microalbuminuria and 33% macroalbuminuria. RESULTS: AER was significantly and progressively reduced during sulodexide treatment (p<0.0001): geometric mean after 3 and 6 months was 63.7% (95% confidence interval [95% CI], 59.3%-68.4%) and 42.7% (95% CI, 37.8%-48.2%) of baseline, respectively. The reduction was similar in type 1 and type 2 diabetes and was slightly greater in macroalbuminuric than in microalbuminuric patients. Blood pressure was slightly lowered, while fasting glucose and glycosylated hemoglobin were moderately reduced. Adverse effects were observed in 5.5% of patients, including gastrointestinal in 3.8%. CONCLUSIONS: Sulodexide therapy was shown to reduce AER in patients with DN.