scholarly journals Hydroxychloroquine-induced podocytopathy mimicking Fabry disease

2019 ◽  
Vol 12 (5) ◽  
pp. e228876 ◽  
Author(s):  
Justine Serre ◽  
David Buob ◽  
Jean-Jacques Boffa

Hydroxychloroquine (HCQ) is largely prescribed as an immunomodulator to prevent systemic diseases flares in patients with systemic lupus erythematous, rheumatoid arthritis, Sjogren’s disease. Among reported side effects, HCQ can accumulate in lysosomes and induced phospholipidosis. Here, we report an HCQ-induced podocytopathy mimicking Fabry disease (FD). They share the same histological lesions: cytoplasmic vacuolisation of the podocytes and zebra bodies on light and electronic microscopy. FD has been ruled out by measuring enzymatic activity and genetic test. The persistence of proteinuria after immunological remission of a systemic disease treated with HCQ could suggest this HCQ-induced podocytopathy.

2010 ◽  
pp. 4715-4723
Author(s):  
Clive B. Archer

Dermatology is most interesting where it overlaps with general internal medicine. Skin lesions may be part of a systemic disease (e.g. in sarcoidosis or systemic lupus erythematosus), or they may be a manifestation of an underlying disease or process as in the case of acanthosis nigricans, which can be associated with either an underlying adenocarcinoma in older patients, or with insulin resistance and sometimes overt diabetes mellitus in younger obese patients....


1992 ◽  
Vol 28 (5) ◽  
pp. 658
Author(s):  
Hyun Ae Park ◽  
Kee Hyun Chang ◽  
Moon Hee Han ◽  
Kyung Hwon Lee ◽  
Sang Hoon Cha ◽  
...  

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 271
Author(s):  
Saverio Capodiferro ◽  
Luisa Limongelli ◽  
Gianfranco Favia

Many systemic (infective, genetic, autoimmune, neoplastic) diseases may involve the oral cavity and, more generally, the soft and hard tissues of the head and neck as primary or secondary localization. Primary onset in the oral cavity of both pediatric and adult diseases usually represents a true challenge for clinicians; their precocious detection is often difficult and requires a wide knowledge but surely results in the early diagnosis and therapy onset with an overall better prognosis and clinical outcomes. In the current paper, as for the topic of the current Special Issue, the authors present an overview on the most frequent clinical manifestations at the oral and maxillo-facial district of systemic disease.


2021 ◽  
Vol 10 (2) ◽  
pp. 243
Author(s):  
Matteo Piga ◽  
Laurent Arnaud

Systemic lupus erythematosus (SLE) is an immune-mediated multi-systemic disease characterized by a wide variability of clinical manifestations and a course frequently subject to unpredictable flares. Despite significant advances in the understanding of the pathophysiology and optimization of medical care, patients with SLE still have significant mortality and carry a risk of progressive organ damage accrual and reduced health-related quality of life. New tools allow earlier classification of SLE, whereas tailored early intervention and treatment strategies targeted to clinical remission or low disease activity could offer the opportunity to reduce damage, thus improving long-term outcomes. Nevertheless, the early diagnosis of SLE is still an unmet need for many patients. Further disentangling the SLE susceptibility and complex pathogenesis will allow to identify more accurate biomarkers and implement new ways to measure disease activity. This could represent a major step forward to find new trials modalities for developing new drugs, optimizing the use of currently available therapeutics and minimizing glucocorticoids. Preventing and treating comorbidities in SLE, improving the management of hard-to-treat manifestations including management of SLE during pregnancy are among the remaining major unmet needs. This review provides insights and a research agenda for the main challenges in SLE.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1785.1-1785
Author(s):  
S. Ganhão ◽  
A. Mendes ◽  
F. Aguiar ◽  
M. Rodrigues ◽  
I. Brito

Background:Systemic lupus erythematosus (SLE) is an autoimmune systemic disease associated with premature atherosclerosis. Risk factors include dyslipoproteinemia, inflammation, oxidized low-density lipoprotein (LDL), hyperhomocysteinemia and antiphospholipid antibodies. Hyperlipidemic condition is being reported to promote the production of proinflammatory cytokines such as IL-1β, IL-6, and IL-27 and lowering blood lipid levels improves the disease. Oxidative stress is elevated, mainly due to mitochondrial dysfunction, further disrupting lipid metabolism. Some drugs also have an impact on lipid profile, such as chronic steroid use, which worsens LDL, HDL, and TG levels.Objectives:To assess the relationship between lipid profile and disease activity in juvenile SLE (jSLE) patients.Methods:Retrospective study of jSLE patients, fulfilling both 2012 and 2019 EULAR/ACR classification criteria for SLE. Juvenile-onset was defined as age at diagnosis <18 years. Demographics and clinical characteristics were collected. To evaluate the activity of jSLE, the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) was used. Statistical analysis was performed with SPSS®. Spearman’s rank non-parametric test or Pearson’s parametric test were used to assess the bivariate correlation for inflammatory and metabolic variables. P value <0.05 was considered significant for all the statistical tests.Results:35 patients were included, with current median (min-max) age of 22 (16-35) years, mean (SD) age of diagnosis of 15.8 (2.4) years; 91.4%female. Median ESR was 19 (2-75) mm/h, CRP 1.65 (0.1-9.6) mg/L, albumin 41.6 (16.7-46.3) g/L, proteinuria 0.2 (0-3) g/dL, leukocyturia 0 (0-1362.7)/uL, erythrocyturia 0 (0-501.9)/uL and anti-double stranded DNA 89.3 (10-800) U/mL. Mean C3 was 102.1 (21.6), C4 17.1 (7.4) mg/dL and creatinine 0.63 (0.1) mg/dL. Median SLEDAI was 2 (0-12). All were ANA positive, 40 % positive for antinucleossome antibodies, 25.7% anti-ribossomal P protein antibody, 11.4% anti-Sm, 8.6% autoantibodies againstβ2-glycoproteinI, 8.6% anti-cardiolipin, 14.3% lupus anticoagulant, 37.1% anti-SSA and 8.6% anti-SSB. Articular manifestations were present in 48.6%, mucocutaneous in 77.1%, haematological in 45.7%, lupus nephritis in 42.9%, serositis in 8.6% and pulmonary interstitial disease in 2.9%. Mean (SD) total cholesterol values (TC) was 165.5 (44.7) mg/dL and LDL 94.5 (29.9) mg/dL. Median high-density lipoprotein was 52 (28-92) and triglycerides (TG) 81.5 (41-253) mg/dL. Median daily prednisolone dose was 5 (0-40) mg. 88.6% were treated with hydroxychloroquine, 31.4% with mychophenolate mophetil and 14.3% with azathioprine. TC was negatively correlated with serum albumin (p=0.043, rho=-378) and positively with SLEDAI (p=0.032; rho= 0.392), proteinuria (p=0.009; rho= 0.469) and leukocyturia (p=0.031; rho= 0.394). A positive correlation was found between LDL and proteinuria (p=0.043; rho= 0.385) and between TG and CRP (p=0.001; rho= 0.575). TG were also positively correlated with prednisolone daily dose (p=0.035; rho= 0.394). Mean LDL was higher in anti-Sm positive patients (p=0.022). No differences were found regarding anti-phospholipids antibodies. Nephritic lupus patients had worse lipid metabolism, but this did not reach statistical significance.Conclusion:In out cohort, increased expression of TC, LDL and TGs is associated with disease activity in SLE. As expected, higher doses of prednisolone also correlated with lipid metabolism.References:[1]Machado D et al. Lipid profile among girls with systemic lupus erythematosus. Rheumatol Int. 2017 Jan;37(1):43-48Disclosure of Interests:None declared


Lupus ◽  
2021 ◽  
pp. 096120332098345
Author(s):  
Alessandra Ida Celia ◽  
Roberta Priori ◽  
Bruna Cerbelli ◽  
Francesca Diomedi-Camassei ◽  
Vincenzo Leuzzi ◽  
...  

Proteinuria is one of the most typical manifestations of kidney involvement in Systemic Lupus Erythematosus (SLE). We report the case of a 23-year-old woman with a 6-year-long history of SLE presenting with proteinuria after a three-year remission on hydroxychloroquine. Kidney histological examination showed alterations inconsistent with lupus nephritis and suggestive of hydroxychloroquine toxicity or Fabry disease. The latter was confirmed by genetic assay.


1987 ◽  
Vol 1 (1) ◽  
pp. 33-44 ◽  
Author(s):  
Guy A. Settipane

Many systemic diseases are associated with nasal symptoms, Rhinitis associated with asthma is probably the most common with leprosy and fungal infections being the rarest. A careful history and nasal examination in a patient with rhinitis may lead to the discovery of more significant systemic diseases. Proper treatment of systemic disease will often cure or improve the associated rhinitis. Similarly, appropriate treatment of the rhinitis/sinusitis may reduce systemic complaints such as asthma. At times, identification of the cause of rhinitis as in CSF rhinorrhea, Wegeners’ syndrome, etc., alerts one to a life-threatening entity. Thus, it is apparent that the nose is an excellent mirror of some systemic diseases and identifying and understanding the differential diagnosis of nasal symptoms may be a tremendous help in diagnosing the disease and treating the whole patient.


2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Ratnadeep Mukherjee ◽  
Pijus Kanti Barman ◽  
Pravat Kumar Thatoi ◽  
Rina Tripathy ◽  
Bidyut Kumar Das ◽  
...  

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