Disease burden for patients with primary immunodeficiency diseases identified at reference hospitals in Guanajuato, Mexico

Guaní-Guerra, Eduardo; Jiménez-Romero, Ana Isabel; García-Ramírez, Ulises Noel; Velázquez-Ávalos, José Manuel; Martínez-Guzmán, Edgar; Sandoval-Ramírez, Eunice; Camacho-Meza, Ignacio

doi:10.1371/journal.pone.0175867

Cited by 15 publications

(27 citation statements)

References 23 publications

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“…CVID followed by selective IgA deficiency, deficiency of specific IgG antibody and agammaglobulinemia were the prevalent phenotypes. These data are strongly supported by previous reports not only from registries in Latin American countries (6) and Europe (14) but also from reference center hospitals in Cairo, Egypt (9), and Guanajuato, Mexico (10). In Brazil, current data on PID characteristics are scarce.…”

Section: Discussionsupporting

confidence: 79%

“…The ratio varied according to the characteristics of the study population, reference centers, or country registers. Normally, males were more prevalent than females (9)(10)(11)(12). The number of patients ≤17 years old was similar to the number of adults.…”

Section: Discussionmentioning

confidence: 71%

“…The diagnosis of PID was key in reducing the number of hospitalizations during the 5 year follow-up period, from 3.7 to 1.5 times. As outlined in other studies, the diagnosis of PID has been shown to be cost-effective in preventing hospitalizations and the need for intravenous antibiotics to clear infections (2,9,10).…”

Section: Discussionmentioning

confidence: 85%

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Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach

et al. 2020

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Background: Primary immunodeficiencies (PIDs) are rare genetic disorders leading to immunologic abnormalities that can affect different organs and systems. We determined the epidemiology, clinical, and geospatial characteristics of PID disorders among patients diagnosed over a 5 year period in a reference hospital covering a mesoregion in São Paulo, Brazil. Methods: A retrospective analysis of 39 patients with recognizable PIDs according to the criteria of the European Society of Primary Immunodeficiencies were enrolled. Thirty-four patients came from outpatient immunodeficiency clinics and five patients from active search. Demographic, clinical, and immunologic data were collected, and maps were constructed using a geographic information system. Results: The ratio of females to males was 1.4:1, and 48.7% of patients were younger than 17 years of age. The mean age at the onset of symptoms in children was 2.0 years [standard error of the mean (SEM), 1.7 years] and the diagnosis lag was 5.1 years (SEM, 3.1 years); the mean age at diagnosis in adults was 16.3 years (SEM, 11.8 years) and the lag was 10.8 years (SEM, 10.9 years). Antibody deficiency and common variable immunodeficiencies were the most common categories and phenotypes, respectively. The need for intravenous antibiotics and respiratory tract infections were the most prevalent warning signs, with an overall mortality rate of 15.3%. Autoimmune diseases were diagnosed in 56.4% and visceral leishmaniasis in 5.1% of patients. In the active search, 29 patients were investigated and 17.2% were diagnosed; early diagnosis, the involvement of multidisciplinary professionals, and dissemination of knowledge achieved milestone benefits. The distribution of PID networks in Brazil shows great asymmetry between regions and at a regional level; it was shown that the patients lived mainly in Presidente Prudente municipality. Conclusions: The implementation of an immunodeficiency outpatient clinic in a referral hospital covering a mesoregion with a large population has led to the generation of Boton Pereira et al. Epidemiologic, Clinical, Geospatial Approach to PID policies and practices to improve the diagnosis, quality of life, and care of patients with PIDs and their families. Furthermore, the search for hospitalized patients with warning signs for PIDs showed great benefits. Inequality in the distribution of PID network centers in Brazil was demonstrated.

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Section: Discussionsupporting

confidence: 79%

Section: Discussionmentioning

confidence: 71%

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Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach

et al. 2020

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“…Many patients with PAD have considerable issues with their physical health which, together with unemployment, have been shown to contribute significantly to a reduced quality of life (QoL). In addition, patients with PAD also experience significant psychosocial and economic distress [12]. It has been widely documented that patients with PAD have reduced perceived health and poorer QoL than healthy matched controls [13].…”

Section: Introductionmentioning

confidence: 99%

The presence of overlapping quality of life symptoms in primary antibody deficiency (PAD) and chronic fatigue syndrome (CFS)

Bansal¹,

Tadros

Bansal

2020

Allergy Asthma Clin Immunol

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Background: Fatigue, sleep disturbance and altered mood are frequently reported in patients with primary antibody deficiency syndrome (PADS) on adequate immunoglobulin replacement therapy. This study aimed to determine the frequency of symptoms compatible with chronic fatigue syndrome (CFS) in patients with PADS. Methods: The study involved the distribution of 682 self-completed postal questionnaires to ascertain the presence and frequency of symptoms compatible with CFS in patients with PADS. The reporting of symptoms for each patient were scored against the CFS diagnostic criteria used within our own South London Chronic Fatigue service. Results: The frequency of symptoms compatible with CFS were evident in 26 of the 188 patients (16.25%) returning adequately completed questionnaires. We considered a bias in the return of questionnaires amongst PADS patients with fatigue to be likely. As such we estimated the minimum frequency of CFS in patients with PADS to be 4% based on the 682 PAD patients to whom the questionnaire was distributed. This was significantly higher than the 0.5% estimate of the prevalence of CFS in the community in western populations. While the presence of significant fatigue correlated with the presence of anxiety and depression, there was no association with self-reported lung damage. Sleep disturbance affected 60% of the PAD patients returning satisfactory questionnaires and as expected the CFS score was higher in those with greater physical limitation. Conclusions: We conclude that patients with PADS have a high frequency of fatigue, low mood and anxiety. We suggest routine questioning for the symptoms of fatigue, disturbed sleep and altered mood in patients with PADS. The use of several treatment strategies in CFS may prove beneficial in improving the quality of life of patients with PAD.

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“…There has been an increasing concern regarding costs of medical assistance for patients with different chronic diseases, including primary immunodeficiencies (PID) , which are not so rare and often underdiagnosed. In PID, several studies have shown that costs are often associated with delayed diagnosis .…”

mentioning

confidence: 99%

Managing costs in primary immunodeficiency: minimal immunophenotyping and three national references

Dias

Silva

Cunha

et al. 2019

APMIS

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Dias ALA, da Silva RG, Cunha FGP, Morcillo AM, Lorand-Metze I, Vilela MMS, Riccetto AGL. Managing costs in primary immunodeficiency: minimal immunophenotyping and three national references. APMIS 2019; 127: 228-235.Our aim was to evaluate the cost-effectiveness of a minimal lymphocyte subset quantification (LSQ) by flow cytometry as the first screening in children with clinically suspected primary immunodeficiency (PID). Two hundred sixty-eight Brazilian patients (0-21 years old) were studied. They were divided by clinical and phenotypical features into those fulfilling criteria for PID (PID phenotype) according to the 2017 International Union of Immunological Societies (IUIS) classification and those not fulfilling these criteria (non-PID phenotype). We evaluated how many patients had values below the 10th percentile for five lymphocyte subsets in peripheral blood, (suggestive of PID) according to reference values for Brazil, Italy and USA. Three lymphocyte subsets (T CD3/CD4, B CD19 and NK CD16/CD56) had p-value < 0.05 and Odds Ratio (OR) indicating a risk at least two times higher for the diagnosis of a PID phenotype. The application of Kappa coefficient (k) on Brazilian vs Italian and Brazilian vs US data sets resulted in k compatible with strong or excellent level of agreement between the three classification systems. The authors conclude that a number of CD3 + / CD4 + , CD19 + and CD16 + /CD56 + (NK) cells in peripheral blood <10th percentile represented a significant risk for the diagnosis of PID in this cohort. Natural killer (NK) deficiency is quite rare and has a very specific clinical profile. So, the analysis of these cells could be requested only in some cases, saving even more costs. The minimal immunophenotyping, with quantification of T CD4 + , CD19 + and in some cases CD16 + /CD56 + cells, may be a useful tool for the first screening of PID, saving costs, especially in developing countries.

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Disease burden for patients with primary immunodeficiency diseases identified at reference hospitals in Guanajuato, Mexico

Cited by 15 publications

References 23 publications

Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach

Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach

The presence of overlapping quality of life symptoms in primary antibody deficiency (PAD) and chronic fatigue syndrome (CFS)

Managing costs in primary immunodeficiency: minimal immunophenotyping and three national references

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