scholarly journals Familial Risks between Pernicious Anemia and Other Autoimmune Diseases in the Population of Sweden

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Xinjun Li ◽  
Hauke Thomsen ◽  
Kristina Sundquist ◽  
Jan Sundquist ◽  
Asta Försti ◽  
...  
Keyword(s):  
Pernicious Anemia ◽  
Genetic Background ◽  
Familial Risk ◽  
Population Level ◽  
Population Register ◽  
Degree Relative ◽  
Autoimmune Polyglandular Syndrome ◽  
Population Prevalence ◽  
History Of ◽  
Offspring Generation

Background. Pernicious anemia (PA) is an autoimmune disease (AID) which is caused by lack of vitamin B12 (cobalamin) due to its impaired uptake. PA is a multifactorial disease which is associated with a number of other AID comorbidities and which is manifested as part of autoimmune polyglandular syndrome. Due to the shortage of family studies on PA, we planned to address the problem by assessing familial risks for concordant PA between family members and for discordant PA in families of other AID patients. Methods. We collected data on patients diagnosed with AIDs from the Swedish hospitals and family data from a population register. We calculated standardized incidence ratios (SIRs) in families for concordant and discordant risks. Results. The number of PA patients in the offspring generation (for which the familial risk was calculated) was 7701; 278 (3.6%) patients had a family history of PA. The population prevalence of PA was 0.9/1000. The familial risk for PA was 3.88 when any first-degree relative was the proband, equal for men and women. The familial risk was two times higher between siblings than between offspring and parents which may be due to complex genetic background. Associations of PA with 14 discordant AIDs were significant; these included some AIDs that have previously been described as comorbidities in PA patients and several yet unreported associations, including rheumatoid arthritis and other AIDs. Conclusions. The familial risks for PA were high suggesting multifactorial genetic etiology. The results call for further population-level studies to unravel mechanisms of familial PA which may help to understand the etiology of this disease.

scholarly journals Brain 5-HT1A Receptor PET Binding, Cortisol Responses to Stress, and the Familial Transmission of Suicidal Behavior

2021 ◽  
Author(s):  
Nadine M Melhem ◽  
Yongqi Zhong ◽  
Jeffrey M Miller ◽  
Francesca Zanderigo ◽  
R Todd Ogden ◽  
...  
Keyword(s):  
High Risk ◽  
Mood Disorder ◽  
Receptor Binding ◽  
Suicidal Behavior ◽  
Social Stress ◽  
Familial Risk ◽  
Group Differences ◽  
Degree Relative ◽  
History Of ◽  
Cortisol Responses

Abstract Background The serotonin 1A (5-HT1A) receptor has been implicated in depression and suicidal behavior. Lower resting cortisol levels are associated with higher 5-HT1A receptor binding, and both differentiate suicide attempters with depression. However, it is not clear whether 5-HT1A receptor binding and cortisol responses to stress are related to familial risk and resilience for suicidal behavior. Methods [ 11C]CUMI-101 PET imaging to quantify regional brain 5-HT1A receptor binding was conducted in individuals considered to be at high-risk for mood disorder or suicidal behavior on the basis of having a first or second degree relative(s) with an early onset mood disorder and history of suicidal behavior. These high-risk subjects were subdivided into: high-risk resilient having no mood disorder or suicidal behavior (HR-R, n=29); high-risk with mood disorder and no suicidal behavior history (HR-MOOD n=31); and high-risk with mood disorder and suicidal behavior (HR-SA/MOOD, n=25). Groups were compared to healthy volunteers without a family history of mood disorder or suicidal behavior (HV, n=34). Participants underwent the Trier Social Stress Task (TSST). All subjects were free from psychotropic medications at the time of the TSST and PET scanning. Results We observed no group differences in 5-HT1A receptor binding considering all regions simultaneously, nor did we observe heterogeneity of the effect of group across regions. These results were similar across outcome measures (BPND for all subjects and BPp in a subset of the sample), and definitions of regions of interest (ROIs; standard or serotonin system-specific ROIs). We also found no group differences on TSST outcomes. Within HR-SA/MOOD, lower BPp binding [β=-0.084, Standard Error or SE=0.038, p=0.048] and higher cortisol reactivity to stress [β=9.25, 95% CI (3.27,15.23), p=0.004] were associated with higher lethality attempts. There were no significant relationships between 5-HT1A binding and cortisol outcomes. Conclusions 5-HT1A receptor binding in ROIs was not linked to familial risk or resilience protecting against suicidal behavior or mood disorder although it may be related to lethality of suicide attempt. Future studies are needed to better understand the biological mechanisms implicated in familial risk for suicidal behavior and how HPA axis function influences such risk.

scholarly journals Familial risks between giant cell arteritis and Takayasu arteritis and other autoimmune diseases in the population of Sweden

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Hauke Thomsen ◽  
Xinjun Li ◽  
Kristina Sundquist ◽  
Jan Sundquist ◽  
Asta Försti ◽  
...  
Keyword(s):  
Giant Cell Arteritis ◽  
Giant Cell ◽  
Takayasu Arteritis ◽  
Family Relationships ◽  
Familial Risk ◽  
Human Leukocyte ◽  
Population Level ◽  
Medium Size ◽  
Human Leukocyte Antigen Locus ◽  
Offspring Generation

AbstractGiant cell arteritis (GCA, also called temporal arteritis) is a rare and Takayasu arteritis (TA) is an even rarer autoimmune disease (AID), both of which present with inflammatory vasculitis of large and medium size arteries. The risk factors are largely undefined but disease susceptibility has been associated with human leukocyte antigen locus. Population-level familial risk is not known. In the present nation-wide study we describe familial risk for GCA and for GCA and TA with any other AID based on the Swedish hospital diagnoses up to years 2012. Family relationships were obtained from the Multigeneration Register. Familial standardized incidence ratios (SIRs) were calculated for offspring whose parents or siblings were diagnosed with GCA, TA or any other AID. The number of GCA patients in the offspring generation was 4695, compared to 209 TA patients; for both, familial patients accounted for 1% of all patients. The familial risk for GCA was 2.14, 2.40 for women and non-significant for men. GCA was associated with 10 other AIDs and TA was associated with 6 other AIDs; both shared associations with polymyalgia rheumatica and rheumatoid arthritis. The results showed that family history is a risk factor for GCA. Significant familial associations of both GCA and TA with such a number of other AIDs provide evidence for polyautoimmunity among these diseases.

scholarly journals A Case of Autoimmune Polyglandular Syndrome Type 3b Initially Presenting as Generalized Weakness in an Elderly Patient

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A776-A776
Author(s):  
Hazem Ayesh ◽  
Cameron Burmeister ◽  
Ahmed Abdelrahman ◽  
Azizullah Beran ◽  
Pooja Suri
Keyword(s):  
Vitamin B12 ◽  
Pernicious Anemia ◽  
Female Patient ◽  
Hemolytic Anemia ◽  
Autoimmune Thyroiditis ◽  
Macrocytic Anemia ◽  
Intrinsic Factor ◽  
Coombs Test ◽  
Autoimmune Polyglandular Syndrome ◽  
History Of

Abstract Introduction: Autoimmune polyglandular syndrome (APS) is a multiorgan genetic autoimmune disease. APS-3B subtype is autoimmune thyroiditis with pernicious anemia. In this case, we will discuss an elderly female patient diagnosed with APS-3B. Case Presentation: A 69-year-old Caucasian female patient with a past medical history of autoimmune thyroiditis presented to the emergency department with a two-month history of generalized weakness and nausea. Associated symptoms included shortness of breath and diarrhea. Review of systems was otherwise unremarkable. Physical exam was positive for depigmented skin macules over the upper extremities. Lab results showed hemoglobin 8.2 [11.7 - 15.5 g/dL], MCV 121[80 - 100 fL], platelets 144,000 [150 - 450 X10E9/L], WBC 1.9 [4.0 - 11.0 X10E9/L], LDH 1153[100 - 235 U/L], TSH 0.28[0.49 - 4.67 uIU/mL], free T4 1.7 [0.61 - 1.60 ng/dL], direct Coombs test negative. Iron saturation 55%, vitamin B12 level <50 [180 - 914 pg/mL], folate >25[>5.8 ng/mL], total bilirubin 2.3 [0.3 - 1.2 mg/dL], haptoglobin <30 [32 - 228 mg/dL], AST 43 [0 - 41 U/L], reticulocyte 1.4%. Blood smear showed absolute neutropenia with flow cytometry unremarkable. Chest x-ray and urinalysis were negative. Immunofixation showed low IgM 44 [45 - 281 mg/dL], low IgG 619 [635 - 1,741 mg/dL]. Intrinsic factor antibodies (IF-Ab) were positive. Hematology reported that hemolytic anemia is less likely given Coombs test was negative. About 1.5% of Vitamin B12 deficiency present with a hemolytic picture due to ineffective erythropoiesis while Coombs test help to differentiate it from autoimmune hemolytic anemia. Diagnosis of pernicious anemia was made and the patient started on vitamin B12 injections. The combination of pernicious anemia, autoimmune thyroiditis, and vitiligo supported the diagnosis of autoimmune APS-3B. There was a normalization of vitamin B12 level and symptomatic improvement on a one-week follow-up. Discussion: The patient was diagnosed with autoimmune thyroiditis in 2014 with positive anti-TPO antibodies and elevated TSH; she required levothyroxine supplementation since diagnosis. Hypothyroidism causes macrocytic anemia, which may delay pernicious anemia diagnosis. APS-3B is associated with HLA-B8 and/or DR3 and DR5. Many studies reported that autoantibodies can be detected before developing symptoms of organ involvement. Thorough family history provides support for autoantibody testing to detect cases of APS-3B earlier. Active surveillance and early diagnosis will help minimize invasive testing such as bone marrow biopsy, so proper history taking is a key factor to early diagnose these conditions. Conclusion: APS-3B is a rare disorder. Diagnosis is difficult hypothyroidism causes macrocytic anemia. Early detection of APS-3B may help to prevent complications that increase the risk of mortality and morbidity, particularly in the elderly population.

scholarly journals Patterns of Weight Change in Aging and Dying

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 491-491
Author(s):  
Stephen Thielke
Keyword(s):  
Older Adults ◽  
Weight Loss ◽  
Risk Factor ◽  
Weight Change ◽  
Population Level ◽  
Chronological Age ◽  
Average Weight ◽  
Remaining Life ◽  
Entire Cohort ◽  
History Of

Abstract Little research has characterized the natural history of weight change in older adults. Different changes may occur during aging and dying. We analyzed 18 years of weight measures from a cohort of 736,361 Veterans, all of whom had died at age 70 or older. We produced summary measures that accounted for both chronological age and number of years before death. Several clear population-level trends appeared. (1) The average weight of the sample declined across all ages at a rate of about 0.18 BMI points per year. (2) Starting about seven years before death, the amount of loss began to accelerate, reaching a decline of 0.75 BMI points in the year before death. (3) Changes in weight relative to years of remaining life were independent of chronologic age. People who died at age 70 experienced, on average, the same type and duration of terminal decline as did those who died at age 95. (4) The dying process involved a cumulative loss of about 1.3 BMI points. (5) The distribution of weights during advancing age both declined and narrowed. (6) Disproportionate deaths occurred at the lower BMI ranges (below a BMI of 24), and especially below 18, regardless of age. (7) The finding in #5 is explained by the entire cohort losing weight, with death of the thinnest members. These findings argue for examining survival time in studies of weight change. They indicate that weight loss may be a natural part of dying, rather than a risk factor for it.

scholarly journals 1060 Does a second-degree relative with history of pre-eclampsia increase the risk of pre-eclampsia?

2021 ◽  
Vol 224 (2) ◽  
pp. S655-S656
Author(s):  
Matthew A. Shanahan ◽  
Alison N. Goulding ◽  
Grace J. Johnson ◽  
Kjersti M. Aagaard
Keyword(s):  
Degree Relative ◽  
History Of ◽  
Second Degree

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.

Quality of parenting and vulnerability to depression: results from a family study

1998 ◽  
Vol 28 (1) ◽  
pp. 185-191 ◽  
Author(s):  
C. DUGGAN ◽  
P. SHAM ◽  
C. MINNE ◽  
A. LEE ◽  
R. MURRAY
Keyword(s):  
Mental Illness ◽  
Family Study ◽  
Past History ◽  
Familial Risk ◽  
Self Report ◽  
History Of ◽  
Quality Of Parenting ◽  
Independent Effects ◽  
The Relationship ◽  
History Of Depression

Background. We examined a group of subjects at familial risk of depression and explored the relationship between the perceptions of parents and a history of depression. We also investigated: (a) whether any difference in perceived parenting found between those with and without a past history of depression was an artefact of the depression; and (b) whether the relationship between parenting and depression was explained by neuroticism.Method. We took a sample of first-degree relatives selected from a family study in depression and subdivided them by their history of mental illness on the SADS-L, into those: (a) without a history of mental illness (N=43); and (b) those who had fully recovered from an episode of RDC major depression (N=34). We compared the perceptions of parenting, as measured by the Parental Bonding Instrument (PBI), in these two groups having adjusted for the effect of neuroticism and subsyndromal depressive symptoms. We also had informants report on parenting of their siblings, the latter being subdivided into those with and without a past history of depression.Results. Relatives with a past history of depression showed lower care scores for both mother and father combined compared with the never ill relatives. The presence of a history of depression was associated with a non-significant reduction in the self-report care scores compared to the siblings report. Vulnerable personality (as measured by high neuroticism) and low perceived care were both found to exert independent effects in discriminating between the scores of relatives with and without a history of depression and there was no interaction between them.Conclusion. This study confirmed that low perceived parental care was associated with a past history of depression, that it was not entirely an artefact of having been depressed, and suggested that this association was partially independent of neuroticism.

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade

2021 ◽  
Vol 14 (4) ◽  
pp. e241680
Author(s):  
Aditya Sanjeevi ◽  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Shriraam Mahadevan
Keyword(s):  
Adrenal Insufficiency ◽  
Vitamin D Supplementation ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Primary Amenorrhoea ◽  
Autoimmune Polyglandular Syndrome ◽  
Nail Changes ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type

A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had chronic mucocutaneous candidiasis and nail changes suggestive of ectodermal dystrophy. Detailed history taking revealed that she had never attained menarche. Serum biochemistries showed hyponatraemia, hyperkalaemia, and hypocalcaemia (sodium, 127 mEq/L; potassium, 6 mEq/L; and albumin-corrected calcium, 6 mg/dL). Adrenocorticotropic hormone-stimulated cortisol (16.7 mcg/dL) was suboptimal favouring adrenal insufficiency. She was started on hydrocortisone and fludrocortisone supplementation. Additionally, the parathyroid hormone was inappropriately low (3.8 pg/mL) confirming hypoparathyroidism. Oral calcium and active vitamin D supplementation were added. With the above clinical and biochemical picture, namely, clustering of primary amenorrhoea, adrenal insufficiency and hypoparathyroidism, the diagnosis pointed towards autoimmune polyglandular syndrome. Genetic workup revealed a deletion in exon 8 of the autoimmune regulator gene confirming the diagnosis of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy/autoimmune polyglandular syndrome type 1 .

Migraine in Children: Association With Primary and Familial Dyslipoproteinemias

PEDIATRICS ◽  
1986 ◽  
Vol 77 (3) ◽  
pp. 316-321
Author(s):  
Charles J. Glueck ◽  
Stephen R. Bates
Keyword(s):  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Lipoprotein Cholesterol ◽  
Degree Relative ◽  
Presumptive Diagnosis ◽  
History Of ◽  
Premature Myocardial Infarction ◽  
Disproportionate Number ◽  
Severe Migraine ◽  
Cerebral Vascular

We studied lipids and lipoprotein cholesterols in 39 children (26 boys, 13 girls) with severe migraine, to examine the hypothesis that primary and familial lipoprotein abnormalities might be associated with or predispose children to the migraine syndrome. Each of the children, 4 to 20 years of age, had severe migraine, leading to pediatric neurologic referral and therapy. Twenty-five of the 39 probands (64%) had a first degree relative with severe migraine, and 18% had a second degree relative with severe migraine. In 11 of the 39 kindreds (28%), there was a family history of premature myocardial infarction and/or cerebral vascular accident (<age 55 years), involving one grandparent from each of ten kindreds and one parent in the 11th kindred. In nine of the 26 boys, low-density lipoprotein cholesterol (LDL-C) levels were greater than or equal to the age-, sex-, race-specific 90th percentile, and in three of these nine children, there was at least one additional first degree relative also having a primary top decile LDL-C level, consistent with the presumptive diagnosis of familial hypercholesterolemia. The finding of more than three times as many boys with migraine headache having top decile LDL-C than expected (9 v 2.6) was significant (x2 = 17.5, P <.01). Also, there were six boys having bottom decile levels of high-density lipoprotein cholesterol (HDL-C); all six came from kindreds with at least one first degree relative also having bottom decile HDL-C. The finding of more than two times as many boys with migraine having bottom decile HDL-C than expected (6 v 2.6) was significant (x2 = 4.94, P < .05). Of the 13 female pediatric probands, two had top decile LDL-C and two had bottom decile HDL-C and came from families with at least one additional first degree family relative also having a primary and similar dyslipoproteinemia. Our observations suggest that the clinical diagnosis of severe migraine in childhood should lead to measurement of lipids and lipoprotein cholesterols, particularly in boys, because they represent a cohort with a disproportionate number of hyper-β- and hypo-α-lipoproteinemic subjects. We speculate that primary and familial lipoprotein abnormalities, particularly those involving high levels of LDL-C and/or low levels of HDL-C, may be etiologically related to migraine, perhaps related to platelet hyperaggregability, and/or increased likelihood of cerebral vascular instability.

Effect of exercise on lipid profile in males and females with a history of obesity in their first-degree relative

2021 ◽  
Vol 11 (7) ◽  
pp. 1
Author(s):  
Anubhav Dwivedi ◽  
Pravesh Kumar ◽  
Jalaj Saxena ◽  
Munish Rastogi ◽  
Chitra Srivastava ◽  
...  
Keyword(s):  
Lipid Profile ◽  
Degree Relative ◽  
History Of ◽  
Males And Females ◽  
History Of Obesity
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