scholarly journals A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Cynthia Cherfane ◽  
Pauline Lee ◽  
Leana Guerin ◽  
Kyle Brown
Keyword(s):  
Heart Failure ◽  
Early Diagnosis ◽  
Young Patient ◽  
Hereditary Hemochromatosis ◽  
Late Presentation ◽  
Severe Form ◽  
Fatal Disease ◽  
Juvenile Hemochromatosis ◽  
History Of ◽  
Cardiac Manifestations

Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39-year-old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis. This is the latest presentation described in the literature. An important clue to the diagnosis was a history of amenorrhea since the age of 20 that had never been investigated. The patient died of intractable heart failure two months after the initial presentation. Juvenile hemochromatosis should be suspected in a young patient with endocrine or cardiac manifestations. Early diagnosis is crucial since phlebotomy can improve the prognosis and delay or prevent progression to heart failure and cirrhosis.

Diphtheria: the patch remains

2003 ◽  
Vol 117 (10) ◽  
pp. 807-810 ◽  
Author(s):  
Raj Nandi ◽  
Mriganka De ◽  
Simon Browning ◽  
Prabhati Purkayastha ◽  
A. K. Bhattacharjee
Keyword(s):  
Early Diagnosis ◽  
Respiratory Tract ◽  
Respiratory Distress ◽  
Retrospective Analysis ◽  
Fatal Disease ◽  
Disease Characteristics ◽  
Intravenous Antibiotics ◽  
Number Of Patients ◽  
History Of ◽  
Clinical Records

This study analysed the number of patients admitted with diphtheria to a teaching hospital in the state of Assam in India over a period of five years and compared the disease characteristics and management with outcomes and incidences of diphtheria reported in the literature. It was a retrospective analysis of data elicited from clinical records of patients admitted to hospital.A total of 101 admissions were recorded during a five-year period between March 1997 to March 2002, mostly with pharyngeal diphtheria (90 per cent). The majority of patients had no history of immunization (70 per cent). Significant presenting features were a tonsillar patch, sore throat, respiratory distress and fever. All patients were treated with anti-diphtheritic serum and intravenous antibiotics. Steroids were given to 81 per cent of patients and tracheostomy was carried out in 10 per cent of cases. The mortality was 16 per cent.Diphtheria of the respiratory tract remains a potentially fatal disease commonly presenting with membranous pharyngitis. Early diagnosis and treatment with anti-diphtheritic serum and antibiotics remain the cornerstone of treatment. Inadequate immunization cover is deemed responsible for the continued menace of diphtheria.

scholarly journals A young patient with heart failure – picture Quiz Question

2012 ◽  
Vol 11 (1) ◽  
pp. 28-28
Author(s):  
H Patel ◽  
◽  
G Dhillon ◽  
A Bandali ◽  
Neil Patel ◽  
...  
Keyword(s):  
Heart Failure ◽  
Case Report ◽  
Chest Pain ◽  
Young Patient ◽  
Loss Of Consciousness ◽  
Productive Cough ◽  
Shortness Of Breath ◽  
Pleuritic Chest Pain ◽  
History Of

Case report A 28 year old gentleman presented after an episode of collapse with loss of consciousness. He gave a history of non-specific malaise and myalgia over the previous 7 days, with fever, a generalised rash and a non productive cough. He developed progressive shortness of breath with sharp, pleuritic chest pain that was unresponsive to antibiotics in the community.

scholarly journals Iron overload in the Asian community

Blood ◽  
2009 ◽  
Vol 114 (1) ◽  
pp. 20-25 ◽  
Author(s):  
Chun Yu Lok ◽  
Alison T. Merryweather-Clarke ◽  
Vip Viprakasit ◽  
Yingyong Chinthammitr ◽  
Somdet Srichairatanakool ◽  
...  
Keyword(s):  
Iron Overload ◽  
Hereditary Hemochromatosis ◽  
Severe Form ◽  
Hfe Gene ◽  
Dominant Form ◽  
Multiple Organs ◽  
Juvenile Hemochromatosis ◽  
Increased Risk ◽  
Autosomal Dominant Form ◽  
Secondary Iron Overload

Abstract Hereditary hemochromatosis is an iron overload disorder that can lead to the impairment of multiple organs and is caused by mutations in one or more different genes. Type 1 hemochromatosis is the most common form of the disease and results from mutations in the HFE gene. Juvenile hemochromatosis (JH) is the most severe form, usually caused by mutations in hemojuvelin (HJV) or hepcidin (HAMP). The autosomal dominant form of the disease, type 4, is due to mutations in the SLC40A1 gene, which encodes for ferroportin (FPN). Hereditary hemochromatosis is commonly found in populations of European origin. By contrast, hemochromatosis in Asia is rare and less well understood and can be masked by the presence of iron deficiency and secondary iron overload from thalassemia. Here, we provide a comprehensive report of hemochromatosis in a group of patients of Asian origin. We have identified novel mutations in HJV, HAMP, and SLC40A1 in countries not normally associated with hereditary hemochromatosis (Pakistan, Bangladesh, Sri Lanka, and Thailand). Our family studies show a high degree of consanguinity, highlighting the increased risk of iron overload in many countries of the developing world and in countries in which there are large immigrant populations from these regions.

Long-term systolic blood pressure and all-cause mortality in heart failure with preserved ejection fraction: an analysis of the TOPCAT trial

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
P Huang ◽  
C Liu
Keyword(s):  
Heart Failure ◽  
Blood Pressure ◽  
Ejection Fraction ◽  
Funding Source ◽  
Preserved Ejection Fraction ◽  
Risk Of Mortality ◽  
All Cause Mortality ◽  
History Of

Abstract Background Lower systolic blood pressure (SBP) at admission or discharge was associated with poor outcomes in patients with heart failure and preserved ejection fraction (HFpEF). However, the optimal long-term SBP for HFpEF was less clear. Purpose To examine the association of long-term SBP and all-cause mortality among patients with HFpEF. Methods We analyzed participants from the Treatment of Preserved Cardiac Function Heart Failure with an Aldosterone Antagonist (TOPCAT) study. Participants had at least two SBP measurements of different times during the follow-up were included. Long-term SBP was defined as the average of all SBP measurements during the follow-up. We stratified participants into four groups according to long-term SBP: <120mmHg, ≥120mmHg and <130mmHg, ≥130mmHg and <140mmHg, ≥140mmHg. Multivariable adjusted Cox proportional hazards models were used to estimate hazard ratios (HRs) and 95% confidence intervals (CI) for all-cause mortality associated with SBP level. To assess for nonlinearity, we fitted restricted cubic spline models of long-term SBP. Sensitivity analyses were conducted by confining participants with history of hypertension or those with left ventricular ejection fraction≥50%. Results The 3338 participants had a mean (SD) age of 68.5 (9.6) years; 51.4% were women, and 89.3% were White. The median long-term SBP was 127.3 mmHg (IQR 121–134.2, range 77–180.7). Patients in the SBP of <120mmHg group were older age, less often female, less often current smoker, had higher estimated glomerular filtration rate, less often had history of hypertension, and more often had chronic obstructive pulmonary disease and atrial fibrillation. After multivariable adjustment, long-term SBP of 120–130mmHg and 130–140mmHg was associated with a lower risk of mortality during a mean follow-up of 3.3 years (HR 0.65, 95% CI: 0.49–0.85, P=0.001; HR 0.66, 95% CI 0.50–0.88, P=0.004, respectively); long-term SBP of <120mmHg had similar risk of mortality (HR 1.03, 95% CI: 0.78–1.36, P=0.836), compared with long-term SBP of ≥140mmHg. Findings from restricted cubic spline analysis demonstrate that there was J-shaped association between long-term SBP and all-cause mortality (P=0.02). These association was essentially unchanged in sensitivity analysis. Conclusions Among patients with HFpEF, long-term SBP showed a J-shaped pattern with all-cause mortality and a range of 120–140 mmHg was significantly associated with better outcomes. Future randomized controlled trials need to evaluate optimal long-term SBP goal in patients with HFpEF. Funding Acknowledgement Type of funding source: Foundation. Main funding source(s): China Postdoctoral Science Foundation Grant (2019M660229 and 2019TQ0380)

scholarly journals Effect of frailty on treatment, hospitalisation and death in patients with chronic heart failure

2021 ◽  
Author(s):  
S. Sze ◽  
P. Pellicori ◽  
J. Zhang ◽  
J. Weston ◽  
I. B. Squire ◽  
...  
Keyword(s):  
Heart Failure ◽  
Chronic Heart Failure ◽  
Clinical Frailty Scale ◽  
Mineralocorticoid Receptor Antagonist ◽  
Reduced Ejection Fraction ◽  
Frail Patients ◽  
History Of ◽  
Poor Outcomes ◽  
To Receive

Abstract Background Frailty is common in patients with chronic heart failure (CHF) and is associated with poor outcomes. The natural history of frail patients with CHF is unknown. Methods Frailty was assessed using the clinical frailty scale (CFS) in 467 consecutive patients with CHF (67% male, median age 76 years, median NT-proBNP 1156 ng/L) attending a routine follow-up visit. Those with CFS > 4 were classified as frail. We investigated the relation between frailty and treatments, hospitalisation and death in patients with CHF. Results 206 patients (44%) were frail. Of 291 patients with HF with reduced ejection fraction (HeFREF), those who were frail (N = 117; 40%) were less likely to receive optimal treatment, with many not receiving a renin–angiotensin–aldosterone system inhibitor (frail: 25% vs. non-frail: 4%), a beta-blocker (16% vs. 8%) or a mineralocorticoid receptor antagonist (50% vs 41%). By 1 year, there were 56 deaths and 322 hospitalisations, of which 25 (45%) and 198 (61%), respectively, were due to non-cardiovascular (non-CV) causes. Most deaths (N = 46, 82%) and hospitalisations (N = 215, 67%) occurred in frail patients. Amongst frail patients, 43% of deaths and 64% of hospitalisations were for non-CV causes; 58% of cardiovascular (CV) deaths were due to advancing HF. Among non-frail patients, 50% of deaths and 57% of hospitalisations were for non-CV causes; all CV deaths were due to advancing HF. Conclusion Frailty in patients with HeFREF is associated with sub-optimal medical treatment. Frail patients are more likely to die or be admitted to hospital, but whether frail or not, many events are non-CV. Graphical abstract

Dementia screening in elderly high-risk patients following heart failure decompensation may predict unfavorable long-term clinical outcomes

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
K Stepien ◽  
P Furczynska ◽  
M Zalewska ◽  
K Nowak ◽  
A Wlodarczyk ◽  
...  
Keyword(s):  
Heart Failure ◽  
High Risk ◽  
Clinical Outcomes ◽  
Mmse Score ◽  
Coronary Revascularization ◽  
High Risk Population ◽  
Risk Population ◽  
History Of

Abstract Background Recently heart failure (HF) has been found to be a new dementia risk factor, nevertheless their relations in patients following HF decompensation remain unknown. Purpose We sought to investigate whether a screening diagnosis for dementia (SDD) in this high-risk population may predict unfavorable long-term clinical outcomes. Methods 142 patients following HF decompensation requiring hospitalization were enrolled. Within a median time of 55 months all patients were screened for dementia with ALFI-MMSE scale whereas their compliance was assessed with the Morisky Medication Adherence Scale. Any incidents of myocardial infarction, coronary revascularization, stroke or transient ischemic attack (TIA), revascularization, HF hospitalization and bleedings during follow-up were collected. Results SDD was established in 37 patients (26%) based on the result of an ALFI-MMSE score of <17 points. By multivariate analysis the lower results of the ALFI-MMSE score were associated with a history of stroke/TIA (β=−0.29, P<0.001), peripheral arterial disease (PAD) (β=−0.20, P=0.011) and lower glomerular filtration rate (β=0.24, P=0.009). During the follow-up, patients with SDD were more often rehospitalized following HF decompensation (48.7% vs 28.6%, P=0.014) than patients without SDD, despite a similar level of compliance (P=0.25). Irrespective of stroke/TIA history, SDD independently increased the risk of rehospitalization due to HF decompensation (HR 2.22, 95% CI 1.23–4.01, P=0.007). Conclusions As shown for the first time in literature patients following decompensated HF, a history of stroke/TIA, PAD and impaired renal function independently influenced SDD. In this high-risk population, SDD was not associated with patients' compliance but irrespective of the stroke/TIA history it increased the risk of recurrent HF hospitalization. The survival free of rehospitalization Funding Acknowledgement Type of funding source: None

scholarly journals History of heart failure in patients with coronavirus disease 2019: Insights from a French registry

2021 ◽  
Author(s):  
Vassili Panagides ◽  
Flavien Vincent ◽  
Orianne Weizman ◽  
Melchior Jonveaux ◽  
Antonin Trimaille ◽  
...  
Keyword(s):  
Heart Failure ◽  
History Of ◽  
French Registry

Late presentation of ALCAPA syndrome: a rare cause of heart failure

2021 ◽  
Author(s):  
Daniel Lorenzatti ◽  
Pedro Cepas Guillén ◽  
Julián Vega Adauy ◽  
Andrea Fernández Valledor ◽  
José Ortiz Pérez
Keyword(s):  
Heart Failure ◽  
Late Presentation

scholarly journals Age-Related Frailty: A Clinical Model for Geroscience?

2020 ◽  
Vol 24 (10) ◽  
pp. 1140-1143 ◽  
Author(s):  
Catherine Takeda ◽  
D. Angioni ◽  
E. Setphan ◽  
T. Macaron ◽  
P. De Souto Barreto ◽  
...  
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Medical History ◽  
Older Age ◽  
The Other ◽  
Everyday Practice ◽  
Clinical Model ◽  
Main Contributor ◽  
Age Related ◽  
History Of

AbstractIn their everyday practice, geriatricians are confronted with the fact that older age and multimorbidity are associated to frailty. Indeed, if we take the example of a very old person with no diseases that progressively becomes frail with no other explanation, there is a natural temptation to link frailty to aging. On the other hand, when an old person with a medical history of diabetes, arthritis and congestive heart failure becomes frail there appears an obvious relationship between frailty and comorbidity. The unsolved question is: Considering that frailty is multifactorial and in the majority of cases comorbidity and aging are acting synergistically, can we disentangle the main contributor to the origin of frailty: disease or aging? We believe that it is important to be able to differentiate age-related frailty from frailty related to comorbidity. In fact, with the emergence of geroscience, the physiopathology, diagnosis, prognosis and treatment will probably have to be different in the future.

Sign in / Sign up

Export Citation Format

Share Document