Evidence of impaired sense of smell in hereditary angioedema

Perricone, Carlo; Agmon‐Levin, Nancy; Shoenfeld, Netta; Carolis, Caterina De; Guarino, Maria Domenica; Gigliucci, Gianfranco; Milana, I; Novelli, Lucia; Valesini, Guido; Perricone, Roberto; Shoenfeld, Yehuda

doi:10.1111/j.1398-9995.2010.02453.x

Cited by 25 publications

(13 citation statements)

References 25 publications

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“…The deletion contained several gene alignments, including olfactory receptor genes. An impaired sense of smell has been reported previously in cases of HAE; 9 however, our patient did not report any problems with her sense of smell, and a clinical investigation of her olfactory function did not reveal any impairment.…”

Section: Reportcontrasting

confidence: 46%

A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema

Iwamoto

Tanaka

Kawai

et al. 2011

Clinical and Experimental Dermatology

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C1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE. Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene. Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control. Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene. We evaluated the correlation between the patient's attacks and her coagulation activity. The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient.

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Section: Reportcontrasting

confidence: 46%

A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema

Iwamoto

Tanaka

Kawai

et al. 2011

Clinical and Experimental Dermatology

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“…Surprisingly, the observation that the sense of smell is impaired in many patients with HAE was first reported in 2011. The severity of smell impairment appears to correlate with complement levels (21). Predictors of perioperative attacks are also not available (22).…”

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confidence: 99%

The EAACI/GA²LEN/EDF/WAO Guideline for the definition, classification, diagnosis, and management of urticaria: the 2013 revision and update

Zuberbier

Aberer

Asero

et al. 2014

Allergy

974

866

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This guideline is the result of a systematic literature review using the 'Grading of Recommendations Assessment, Development and Evaluation' (GRADE) methodology and a structured consensus conference held on 28 and 29 November 2012, in Berlin. It is a joint initiative of the Dermatology Section of the European Academy of Allergy and Clinical Immunology (EAACI), the EU-funded network of excellence, the Global Allergy and Asthma European Network (GA(2) LEN), the European Dermatology Forum (EDF), and the World Allergy Organization (WAO) with the participation of delegates of 21 national and international societies. Urticaria is a frequent, mast cell-driven disease, presenting with wheals, angioedema, or both. The life-time prevalence for acute urticaria is approximately 20%. Chronic spontaneous urticaria and other chronic forms of urticaria do not only cause a decrease in quality of life, but also affect performance at work and school and, as such, are members of the group of severe allergic diseases. This guideline covers the definition and classification of urticaria, taking into account the recent progress in identifying its causes, eliciting factors and pathomechanisms. In addition, it outlines evidence-based diagnostic and therapeutic approaches for the different subtypes of urticaria. This guideline was acknowledged and accepted by the European Union of Medical Specialists (UEMS).

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“…Many ties link the immune system with the olfaction; the immune and olfactory systems are both influenced by external stimuli of our close environment [5,15,16,61]. Both systems discriminate between self and non-self and both are major histocompatibility complex (MHC) dependent [61].…”

Section: Discussionmentioning

confidence: 99%

“…Olfactory dysfunction has been confirmed in various neurological as well as psychiatric diseases, such as alzheimer's disease (AD), down syndrome (DS), parkinson's disease (PD), schizophrenia and depression [1][2][3]. Olfactory dysfunction has also been reported in neurologic autoimmune diseases such as multiple sclerosis and myasthenia gravis [4][5][6], and in various autoimmune diseases such as systemic lupus erythematosus (SLE) [3,5,[7][8][9][10][11][12][13][14][15][16][17][18].…”

Section: Introductionmentioning

confidence: 99%

Olfactory impairment in patients with the fibromyalgia syndrome and systemic sclerosis

et al. 2014

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Patients with autoimmune diseases often present with olfactory impairment. The aim of the study was to assess the olfactory functions of female patients with fibromyalgia (FM) compared with patients with systemic sclerosis (SSc) and with healthy female controls. Olfactory functions were assessed in 24 patients with FM, 20 patients with SSc and 21 age-matched healthy controls. The sense of smell was evaluated using the Sniffin' Sticks test including the three stages of smell: threshold, discrimination, and identification (TDI) of the different odors. The severity of fibromyalgia was assessed using the fibromyalgia impact questionnaire (FIQ). The short form 36 (SF-36) questionnaire was also completed in order to seek a relationship between the patients perception of quality of life and the different aspects of the smell sense. Depression was evaluated in both FM and SSc patients utilizing the Beck depression inventory-II (BDI-II) questionnaire. Patients with FM had significantly lower TDI smell scores compared with both SSc patients and healthy controls (p < 0.005, One-Way ANOVA). Hyposmia (defined as TDI scores below 30) were observed in 14 of 24 (42 %) patients with FM compared to 3 of 20 (15 %) patients with SSc and 1 of the healthy controls (4.3 %) (p < 0.02). FM patients had significantly lower thresholds of smell compared to both healthy controls and patients with SSc (p < 0.001), whereas for patients with SSc only the ability to discriminate between odors was impaired (p < 0.006). We could not detect any statistical correlation between smell abilities and clinical manifestation of SSc or the FIQ and SF-36 scores among FM patients. However the correlation between depression, defined by the BDI-II score, and the sense of smell differed between patients with FM and patients with SSc. As only among SSc patients a lower sense of smell correlated with a higher BDI-II score (p = 0.02). Our findings suggest that there is a decrease in the sense of smell both in FM and SSc patients compared with healthy controls. However these impairments differ between patients group and might represent different mechanisms that affect the sense of smell.

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Evidence of impaired sense of smell in hereditary angioedema

Abstract: Evidence for an impaired sense of smell was found in patients with HAE. The reduction in olfactory function in these cases seems to correlate with complement C4 and CH50 levels. Immune and genetic mechanisms might play a role in this defect.

Cited by 25 publications

References 25 publications

A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema

A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema

The EAACI/GA²LEN/EDF/WAO Guideline for the definition, classification, diagnosis, and management of urticaria: the 2013 revision and update

Olfactory impairment in patients with the fibromyalgia syndrome and systemic sclerosis

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Evidence of impaired sense of smell in hereditary angioedema

Abstract: Evidence for an impaired sense of smell was found in patients with HAE. The reduction in olfactory function in these cases seems to correlate with complement C4 and CH50 levels. Immune and genetic mechanisms might play a role in this defect.

Cited by 25 publications

References 25 publications

A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema

A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema

The EAACI/GA2LEN/EDF/WAO Guideline for the definition, classification, diagnosis, and management of urticaria: the 2013 revision and update

Olfactory impairment in patients with the fibromyalgia syndrome and systemic sclerosis

Contact Info

Product

Resources

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The EAACI/GA²LEN/EDF/WAO Guideline for the definition, classification, diagnosis, and management of urticaria: the 2013 revision and update