Familial Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) Syndrome; is it a Separate Disease?

2021 ◽  
Author(s):  
Tamar Veres ◽  
Gil Amarilyo ◽  
Sabreen Abu Ahmad ◽  
Maryam Abu Rumi ◽  
Riva Brik ◽  
...  
Keyword(s):  
Family History ◽  
Clinical Data ◽  
Carrier Frequency ◽  
Pediatric Population ◽  
Periodic Fever ◽  
Positive Family History ◽  
Periodic Fever Syndrome ◽  
M694v Mutation ◽  
History Of ◽  
Pfapa Syndrome

Abstract Introduction: PFAPA is the most common periodic fever syndrome in the pediatric population yet pathogenesis is unknown. PFAPA was believed to be sporadic but family clustering has been widely observed.Objective: To identify demographic and clinical differences between patients with PFAPA and a positive family history (FH+) compared to those with PFAPA with no family history (FH-).Methods: In a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31 (14.3%) of patients were PFAPA FH+. Data from patients with FH+ for PFAPA was compared to data from those with FH- of the disorder. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demography and clinical details. Results: FH+ group had more headaches (32% vs.2%; p= 0.016), myalgia (56% vs. 19%; p= 0.001), higher carrier frequency of M694V mutation (54% vs. 25%; p=0.053), greater family history of FMF (30% vs. 15%; p=0.096) and better outcomes with colchicine (82% vs. 52%; p=0.096) compared to those with FH-. FMs displayed almost identical characteristics to the FH+ group except for greater arthralgia during flares (64% vs. 23%; p=0.008) and compared to the FH- group, more oral aphthae (68% vs. 43%; p=0.002), myalgia/arthralgia (64% vs. 19%/16%; p<0.0001), and higher rates of FH of FMF (45% vs.15%; p=0.003). Conclusions: Our findings suggest that FH+ likely experience a different subset of disease with higher frequency of family history of FMF, arthralgia, myalgia and better response to colchicine compared to FH-. Colchicine prophylaxis for PFAPA should be considered in FH+.

scholarly journals POS1326 FAMILIAL PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND ADENITIS (PFAPA)SYNDROME; IS IT A SEPARATE DISEASE?

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 945.2-945
Author(s):  
Y. Butbul
Keyword(s):  
Family History ◽  
Pediatric Population ◽  
Periodic Fever ◽  
Positive Family History ◽  
Aphthous Stomatitis ◽  
M694v Mutation ◽  
Fever Syndromes ◽  
History Of ◽  
Pfapa Syndrome ◽  
Sporadic Disease

Background:Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) is the most common periodic fever syndrome in the pediatric population. Unlike other periodic fever syndromes, the pathogenesis and genetics of PFAPA is unknown. Until recently, PFAPA was believed to be a sporadic disease, yet family clustering has been widely observed and current research indicates that heredity is likely.Objectives:To identify demographic and clinical differences between patients with PFAPA who have a positive family history (FH+) compared to those with PFAPA with no family history (FH-) that can reveal if heritable and sporadic subtypes of this disorder exist.Methods:In a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31(14.3%) of patients were PFAPA FH+. Data from patients with FH+ for PFAPA was compared to data from those with FH- of the disorder. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demography and clinical details.Results:FH+ group had more headaches (32% vs.2%; p= 0.016), myalgia (56% vs. 19%; p= 0.001), higher carrier frequency of M694V mutation (54% vs. 25%; p=0.053), greater family history of FMF (30% vs. 15%; p=0.096) and better outcomes with colchicine (82% vs. 52%; p=0.096) compared to those with FH-. FMs displayed almost identical characteristics to the FH+ group except for greater arthralgia during flares (64% vs. 23%; p=0.008) and compared to the FH- group, more oral aphthae (68% vs. 43%; p=0.002), myalgia/arthralgia (64% vs. 19%/16%; p<0.0001), and higher rates of FH of FMF (45% vs.15%; p=0.003).Conclusion:Our findings suggest that FH+ had probably different subset of disease with higher frequency of family history of FMF arthralgia, myalgia and better response to colchicine. Colchicine prophylaxis for PFAPA should be considered in FH+.Disclosure of Interests:None declared

scholarly journals 19. Fever, dyspnoea and a raised CRP: just another chest sepsis?

2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Edward Davies ◽  
Vijay Hajela
Keyword(s):  
Genetic Polymorphism ◽  
Family History ◽  
Pericardial Effusion ◽  
Conflicts Of Interest ◽  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Faecal Calprotectin ◽  
Line Therapy ◽  
History Of ◽  
Learning Points

Abstract Introduction Autoinflammatory conditions can arise in patients presenting on the medical take. Patients presenting with an inflammatory response, fever and organ dysfunction are usually (and appropriately) managed as sepsis until proven otherwise. However, a suspicion should be maintained for alternative diagnoses when there is no improvement with conventional antimicrobial therapy. We present a case of a young woman presenting with polyserositis with a wide differential diagnosis including infection, autoimmunity and malignancy. She was treated successfully with colchicine. Subsequent genetic analysis at the Royal Free hospital for fever syndromes has not found a pre-described genetic polymorphism. Case description A 39-year-old woman presented to A&E with dyspnoea, night sweats, lethargy and right upper quadrant pain. Her past medical history included hypothyroidism and two years of intermittent diarrhoea. This diarrhoea was associated with a raised faecal calprotectin. Subsequent investigation with colonoscopy and MRI small bowel were normal. Other past history included pleurisy felt to be secondary to a lower respiratory tract infection aged 38 and a right knee effusion aged 15. She was born in the UK but had a Greek mother. Examination revealed reduced breath sounds in the bases which were dull to percuss, normal heart sounds and mild abdominal distension. There was no peripheral oedema. Observations showed oxygen saturations of 90% on air, BP 90/50, HR 120 and a pyrexia of 38°C. Blood results showed a raised ALT of 100 and CRP 40. She was initially treated with antibiotics for a working diagnosis of atypical pneumonia. Her respiratory failure deteriorated and a CTPA two days later showed bilateral pleural effusions, a massive pericardial effusion with impending tamponade and a right upper lobe PE. A CT CAP show moderate ascites but no evidence of malignancy or lymphoma. Pericardiocentesis showed a reactive picture with no organisms grown and normal cytopathology of the fluid. Pleural and ascitic fluid were also drained and she was commenced on LMWH for the PE. Virology, microbiological and autoimmune screens were unremarkable. CRP at this stage had risen to 78 as had the ALT to 1400. 6 days after admission, antibiotics were stopped she was commenced on colchicine 1mg bd. Within 48 hours she rapidly improved both clinically and biochemically. Discussion Since the index admission genetic analysis has shown she is HLA B51 negative and she has no recognised genetic polymorphism associated with a periodic fever syndrome. 20 months since admission she has made a good recovery and is stable on colchicine 1mg od with no recurrence of the pleural and pericardial effusions. She has had one further episode of diarrhoea for 2 weeks associated with a raised faecal calprotectin and red macular rashes on her torso. Anticoagulation for the PE has been stopped. Polyserositis in the absence of infection or malignancy is uncommon and autoinflammatory and autoimmune aetiologies should be considered. This case highlights the importance of keeping a broad mind in patients presenting in an unusual way or when they do not respond to initial treatment. Autoinflammatory conditions are characterised by marked inflammation affecting the skin, serosal surfaces and synovium among others. Her history of colitis is intriguing. There are case reports of patients with familial Mediterranean fever presenting with serositis but she was negative for FMF on further genetic testing. Similarly she did not prove to have any of the genes that have so far been recognised as causing a periodic fever syndrome. We did consider Behçet’s but she denied a history of recurrent oral or genital ulceration or iritis and there was no family history. However Behçet’s can lead to inflammatory bowel disease and this remains an intriguing possibility. The dramatic response to colchicine was remarkable. Within 48 hours a re-accumulated pericardial effusion causing right ventricular strain had disappeared as had clinically apparent ascites. Most autoimmune, infective or malignant aetiologies would not be expected to respond in such a way and a yet undiscovered autoinflammatory syndrome remains a tantalising possibility. Key learning points Main learning points so far: Maintain a wide differential in patients presenting with polyserositis, especially when there is a poor response to typical management approaches. Consider autoinflammatory disease and take a detailed past medical and family history. Colchicine is cheap and generally well tolerated at lower doses. Colchicine is first line therapy for recurrent pericarditis. Learning points from the conference: What’s her risk of developing secondary amyloid or other secondary sequelae? How long will she need treatment for and how/ when you would you wean the colchicine? Is her partial Greek genetic heritage relevant? How common are wild type genetic polymorphisms occurring in autoinflammatory conditions? How frequently is colitis a feature of autoinflammatory diseases? If she becomes unwell again what would your second line therapy be? Conflicts of interest The authors have declared no conflicts of interest.

scholarly journals Some Risk Factors of Chronic Functional Constipation Identified in a Pediatric Population Sample from Romania

2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Claudia Olaru ◽  
Smaranda Diaconescu ◽  
Laura Trandafir ◽  
Nicoleta Gimiga ◽  
Gabriela Stefanescu ◽  
...  
Keyword(s):  
Family History ◽  
Dietary Habits ◽  
Pediatric Population ◽  
Positive Family History ◽  
Population Sample ◽  
Control Sample ◽  
Functional Constipation ◽  
Control Group ◽  
Significant Difference ◽  
History Of

We conducted an observational study over a 1-year period, including 234 children aged 4–18 years and their caregivers and a matching control group. 60.73% of the children from the study group were males. Average age for the onset of constipation was 26.39 months. The frequency of defecation was 1/4.59 days (1/1.13 days in the control group). 38.49% of the patients in the sample group had a positive family history of functional constipation. The majority of children with functional constipation come from single-parent families, are raised by relatives, or come from orphanages. Constipated subjects had their last meal of the day at later hours and consumed fast foods more frequently than the children in the control sample. We found a statistically significant difference between groups regarding obesity/overweight and constipation (χ2=104.94,  df=2,  p<0.001) and regarding physical activity and constipation (χ2=18.419;  df=3;  p<0.001). There was a positive correlation between the number of hours spent watching television/using the computer and the occurrence of the disease (F= 92.162,p<0.001, and 95% Cl). Children from broken families, with positive family history, defective dietary habits, obesity and sedentary behavior, are at higher risk to develop chronic functional constipation.

scholarly journals The association between diabetes and thyroid cancer risk: a hospital-based case-control study in China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meng Wang ◽  
Wei-Wei Gong ◽  
Feng Lu ◽  
Ru-Ying Hu ◽  
Qing-Fang He ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Family History ◽  
Case Control Study ◽  
Positive Family History ◽  
Case Control ◽  
Diabetes Duration ◽  
Family History Of Diabetes ◽  
Thyroid Cancer Risk ◽  
History Of ◽  
Control Study

Abstract Background Previous studies have indicated inconsistent relationships of diabetes with thyroid cancer risk, yet little is known in China. In this study, we aimed to investigate the associations between diabetes, diabetes duration and the risk of thyroid cancer in Chinese population. Methods A 1:1 matched case-control study was performed between 2015 and 2017 in Zhejiang Province including 2,937 thyroid cancer cases and 2,937 healthy controls. Odds ratios (ORs) with 95 % confidence intervals (CIs) for thyroid cancer were estimated in logistic regression models. Specific effects stratified by age, as well as sex, body mass index (BMI) and family history of diabetes were also examined. Results Overall, neither diabetes (OR = 0.75, 95 % CI: 0.21–2.73) nor diabetes duration (OR = 0.14, 95 % CI: 0.02–1.22 for diabetes duration ≦ 5 years; OR = 2.10, 95 % CI: 0.32–13.94 for diabetes duration > 5 years) was significantly associated with thyroid cancer. In stratified analyses, significant lower risk of thyroid cancer was observed among subjects with diabetes and shorter diabetes duration ( ≦ 5 years), but limited to those who were aged more than 40 years, female, overweight/obese and had positive family history of diabetes. Conclusions Diabetes and shorter diabetes duration were significantly associated with decreased risk of thyroid cancer in individuals characterized by older age, female sex, higher BMI and positive family history of diabetes.

scholarly journals Differential expression of micro RNA-29 family in non-diabetic adults of diabetic and non-diabetic parents

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Uzair Abbas ◽  
Bushra Imdad ◽  
Sikander Adil Mughal ◽  
Israr Ahmed Baloch ◽  
Afshan Mehboob Khan ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Family History ◽  
Positive Family History ◽  
Cross Sectional Study ◽  
Vital Role ◽  
Micro Rna ◽  
Cross Sectional ◽  
Family History Of Diabetes ◽  
History Of

Abstract Objective MicroRNAs are known to regulate 60% of genes at post translational level. MicroRNAs including Micro RNA-29 family play a vital role in cellular activities and have validate role in numerous metabolic disorders inclusive of diabetes mellitus and its complications. While micro RNA profile changes years before the occurrence of disease. This cross-sectional study was conducted in non-diabetic adults of diabetic and non-diabetic parents to explore the early changes in expression of micro RNA-29 family as it can be served as early biomarker of type 2 diabetes in non-diabetic adults. This study was conducted from January 2019 to January 2021. Micro RNA was extracted from plasma of 50 participants and expression was compared through qPCR. While data was analyzed through SPSS version 21.0. Results 29a and 29b had lower expression in participants with family history of DM compared to those having no family history of DM (P < 0.0001). While micro RNA 29c was found to be significantly higher in participants with positive family history of type 2 diabetes as compared to those without family history of diabetes (P = 0.001).

A Group Therapy Approach to Facilitate Integration of Risk Information for Women at Risk for Breast Cancer

1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Family History ◽  
Group Therapy ◽  
Perceived Risk ◽  
Positive Family History ◽  
Risk Information ◽  
Degree Relative ◽  
Therapy Approach ◽  
History Of

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.

Levels of anxiety, depression and denial in patients with myocardial infarction

1997 ◽  
Vol 12 (3) ◽  
pp. 149-151 ◽  
Author(s):  
D Sarantidis ◽  
A Thomas ◽  
K Iphantis ◽  
N Katsaros ◽  
J Tripodianakis ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Intensive Care Unit ◽  
Family History ◽  
Positive Family History ◽  
Anxiety And Depression ◽  
Previous Myocardial Infarction ◽  
History Of ◽  
Seeking Help ◽  
Anxiety Depression

SummaryIn this study we investigated 1) the changes in anxiety, depression and denial from admission to discharge in patients admitted to the intensive care unit following an acute myocardial infarction and 2) the effect of smoking habits, time lapsed from the appearance of symptoms to seeking help behavior, presence of a person that motivated the patient to seek help, previous myocardial infarction (MI) and family history of MI, on these changes. The results indicated that 1) the levels of both anxiety and depression increased from admission to discharge, while denial decreased; 2) positive family history of MI was associated with lower difference of denial between admission and discharge.

Blood Pressure and Intra-Erythrocyte Sodium during Normal and High Salt Intake in Middle-Aged Men: Relationship to Family History of Hypertension, and Neurogenic and Hormonal Variables

1984 ◽  
Vol 66 (4) ◽  
pp. 427-433 ◽  
Author(s):  
Ottar Gudmundsson ◽  
Hans Herlitz ◽  
Olof Jonsson ◽  
Thomas Hedner ◽  
Ove Andersson ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Family History ◽  
Salt Intake ◽  
Sodium Intake ◽  
Positive Family History ◽  
Sodium Content ◽  
High Salt Intake ◽  
History Of ◽  
Family History Of Hypertension ◽  
Erythrocyte Sodium

1. During 4 weeks 37 normotensive 50-year-old men identified by screening in a random population sample were given 12 g of NaCl daily, in addition to their usual dietary sodium intake. Blood pressure, heart rate, weight, urinary excretion of sodium, potassium and catecholamines, plasma aldosterone and noradrenaline and intra-erythrocyte sodium content were determined on normal and increased salt intake. The subjects were divided into those with a positive family history of hypertension (n = 11) and those without such a history (n = 26). 2. Systolic blood pressure and weight increased significantly irrespective of a positive family history of hypertension. 3. On normal salt intake intra-erythrocyte sodium content was significantly higher in those with a positive family history of hypertension. During high salt intake intra-erythrocyte sodium content decreased significantly in that group and the difference between the hereditary subgroups was no longer significant. 4. In the whole group urinary excretion of noradrenaline, adrenaline and dopamine increased whereas plasma aldosterone decreased during the increased salt intake. 5. Thus, in contrast to some earlier studies performed in young subjects, our results indicate that moderately increased sodium intake acts as a pressor agent in normotensive middle-aged men whether there was a positive family history of hypertension or not. We confirm that men with positive family history of hypertension have an increased intra-erythrocyte sodium content, and that an increase in salt intake seems to increase overall sympathetic activity.

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