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Archives of Dermatological Research Aug 2023Hidradenitis suppurativa (HS) is associated with a number of physical and psychological comorbidities. Studies have suggested an association between HS and anemia;... (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Hidradenitis suppurativa (HS) is associated with a number of physical and psychological comorbidities. Studies have suggested an association between HS and anemia; however, this association is not widely understood and may result in delayed diagnosis and treatment and possible increase in morbidity and mortality.
OBJECTIVE
To systematically review and perform a meta-analysis regarding the association between HS and anemia, and to characterize the subtypes of anemia associated with HS.
DATA SOURCES
A search of the EMBASE, Medline, Web of Science Core Collection, and Cochrane Central Register of Controlled Trials databases from the time of database inception to September 25, 2022, yielded 313 unique articles.
STUDY SELECTION
All observational studies and randomized controlled trials published in English that examined the odds ratio (OR) of anemia in patients with HS were screened by 2 independent reviewers. Case reports were excluded. Among 313 unique articles, 7 were deemed eligible.
DATA EXTRACTION AND SYNTHESIS
The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines facilitated data extraction. The Newcastle-Ottawa Scale (NOS) was used to analyze risk of bias of included studies. In addition to OR and 95% confidence intervals, relevant data on patient demographics and anemia subtypes were also extracted.
MAIN OUTCOMES AND MEASURES
The primary outcome was the OR of anemia in HS patients. This study also attempted to characterize anemia subtypes associated with HS.
RESULTS
In total, 2 case-control and 5 cross-sectional studies featured a total of 11,693 patients. Among the studies, 4 of 7 demonstrated a statistically significant positive association between anemia and HS (ORs, 2.20 [1.42-3.41], 2.33 [1.99-2.73], 1.87 [1.02-3.44], and 1.50 [1.43-1.57]), with macrocytic and microcytic subtypes being most common. After adjusting for publication bias, meta-analysis with random effects revealed HS to be associated with increased odds of anemia compared to non-HS groups (OR 1.59 [1.19, 2.11]).
CONCLUSIONS AND RELEVANCE
There is a statistically significant positive association between HS and anemia, particularly for the aforementioned subtypes. Patients with HS should be screened for anemia. In case of lower hemoglobin concentration, the anemia of HS patients should be subdivided according to mean corpuscular volume of the red blood cells and further investigated depending on subtype.
Topics: Humans; Hidradenitis Suppurativa; Cross-Sectional Studies; Comorbidity; Anemia
PubMed: 36781458
DOI: 10.1007/s00403-023-02559-9 -
Scandinavian Journal of Gastroenterology 2023Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic vascular anomaly mainly affecting the skin, central nervous system and gastrointestinal tracts. Its clinical...
BACKGROUND
Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic vascular anomaly mainly affecting the skin, central nervous system and gastrointestinal tracts. Its clinical presentation and characteristics in adult patients are unclear.
AIM
To clarify the characteristics of BRBNS in adult patients with a focus on gastrointestinal symptoms.
METHODS
Following the PRISMA Extension for Scoping Reviews, we searched MEDLINE and EMBASE for all peer-reviewed articles using keywords including 'Blue rubber bleb nevus syndrome' from their inception to 28 December 2021.
RESULTS
Ninety-nine articles, including 3 observational studies and 101 cases from case reports and series, were included. Observational studies were consistently with small sample sizes, and there was only one prospective study to show the effectiveness of sirolimus in BRBNS. Common clinical presentations included anemia (50.5%) and melena (26.5%). While skin findings were known to be representative of BRBNS, only 57.4% had known vascular malformation. The diagnosis was primarily made clinically, with only 1% being diagnosed with BRBNS through genetic sequencing. Distribution of BRBNS-related lesions were variable, but predominantly oral (55.9%), followed by small bowel (49.5%), colorectal (35.6%) and stomach (26.7%) vascular malformations.
CONCLUSION
While it has been underrecognized, adult BRBNS could be a culprit for refractory microcytic anemia or occult gastrointestinal bleeding. Further studies are critical to establish a uniform understanding of diagnosis and treatment for those with adult BRBNS. The utility of genetic testing in adult BRBNS diagnosis and the patient characteristics that may benefit from sirolimus, a potentially curative agent, remain to be clarified.
Topics: Humans; Adult; Prospective Studies; Skin Neoplasms; Gastrointestinal Neoplasms; Sirolimus; Anemia
PubMed: 37211745
DOI: 10.1080/00365521.2023.2214263 -
Annals of Hematology Apr 2024Iron resistance iron deficiency anaemia is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and... (Review)
Review
Iron resistance iron deficiency anaemia is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and inappropriately high hepcidin levels. The aetiology of this condition is rooted in genetic variations within the transmembrane serine protease 6 (TMPRSS6) genes, responsible for encoding matriptase-2, a pivotal negative regulator of hepcidin. We conducted a systematic search across four electronic databases, yielding 538 articles in total out of which 25 were finally included and were preceded further, aiming to prognosticate prevalent single nucleotide polymorphisms (SNPs) and detrimental genetic alterations. This review aims to elucidate the effects of various SNPs and pathogenic mutations on both haematological and biochemical parameters, as well as their potential interethnic correlation. Employing bioinformatics tools, we subjected over 100 SNPs to scrutiny, discerning their potential functional ramifications. We found rs1373272804, rs1430692214 and rs855791 variants to be most frequent and were having a significant impact on haematological and biochemical profile. We found that individuals of European ancestry were more prone to have these variants compared to other ethnic groups. In conclusion, this review not only sheds light on the association of TMPRSS6 polymorphism in iron resistance iron deficiency anaemia (IRIDA), but also highlights the critical need for further investigations involving larger sample size and more diverse ethnic groups around the globe. These future studies will be vital for gaining a stronger and more reliable understanding of how these genetic differences are linked to the development of IRIDA.
Topics: Humans; Anemia, Iron-Deficiency; Hepcidins; Mutation; Polymorphism, Single Nucleotide; Iron; Membrane Proteins; Serine Endopeptidases
PubMed: 38072851
DOI: 10.1007/s00277-023-05576-w