Cardiac Transthyretin Amyloidosis: Hidden in Plain Sight

Amyloidosis is an underappreciated medical condition with symptoms camouflaging as common medical comorbidities leading to its underdiagnosis due to its systemic involvement. Despite common misconceptions, amyloidosis and its systemic comorbidities are more prevalent and treatable than previously acknowledged by the medical community. There are two major forms of amyloidosis: amyloid light-chain and transthyretin amyloidosis. Each of these have a distinct pathophysiology, diagnostic work-up, treatment, and prognosis. The patient described in this study was diagnosed with transthyretin cardiac amyloidosis months after presenting with heart failure of unknown etiology. Usually, clinicians presume that heart failure results from common comorbidities such as hypertension, diabetes, and hyperlipidemia. Here, the correct etiology was transthyretin cardiac amyloidosis. The patient had five admissions for heart failure symptoms prior to a physician identifying the etiology as cardiac transthyretin amyloidosis. After initiating the transthyretin stabilizer tafamidis, the patient did not experience another heart failure exacerbation. This vignette provides an example of the clinical presentation, diagnostic work-up, and treatment of a patient with cardiac transthyretin amyloidosis. The review of the literature focuses on the epidemiology, and clinical symptoms that should prompt an evaluation for cardiac amyloidosis as well as the diagnostic and therapeutic options are available. Transthyretin cardiac amyloidosis is a rare and underdiagnosed disease, while heart failure is a highly prevalent condition. This clinical vignette seeks to provide education and awareness to an overlooked medical disorder.

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Acute heart failure: diagnosis

ESC CardioMed ◽

10.1093/med/9780198784906.003.0439 ◽

2018 ◽

pp. 1911-1917 ◽

Cited By ~ 2

Author(s):

Adriaan A. Voors ◽

Piotr Ponikowski

Keyword(s):

Heart Failure ◽

Acute Heart Failure ◽

Medical Condition ◽

Specific Treatment ◽

Length Of Hospital Stay ◽

Clinical History ◽

Life Threatening ◽

Diagnostic Work ◽

Work Up ◽

Diagnostic Work Up

Acute heart failure is a life-threatening medical condition typically leading to urgent hospital admission. Early diagnosis is of great importance, since it will lead to earlier and better targeted treatment, leading to a decrease in length of hospital stay, and most importantly to improved clinical outcome. The initial diagnostic work-up includes a clinical history, evaluation of symptoms and signs, an electrocardiogram, chest X-ray, natriuretic peptide levels, echocardiography and perhaps lung ultrasound. After the initial work-up, a clinical classification according to blood pressure, congestion, and peripheral perfusion should be performed, since it will guide treatment. During the diagnostic work-up, treatable and life-threatening conditions always need to be considered since they need immediate and case-specific treatment.

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Causes of brain dysfunction in acute coma: a cohort study of 1027 patients in the emergency department

Scandinavian Journal of Trauma Resuscitation and Emergency Medicine ◽

10.1186/s13049-019-0669-4 ◽

2019 ◽

Vol 27 (1) ◽

Cited By ~ 2

Author(s):

Wolf Ulrich Schmidt ◽

Christoph J. Ploner ◽

Maximilian Lutz ◽

Martin Möckel ◽

Tobias Lindner ◽

...

Keyword(s):

Hospital Mortality ◽

Clinical Laboratory ◽

Brain Dysfunction ◽

University Hospital ◽

Unknown Etiology ◽

Efficient Management ◽

Observational Study Design ◽

Diagnostic Work ◽

Work Up ◽

Diagnostic Work Up

Abstract Background Coma of unknown etiology (CUE) is a major challenge in emergency medicine. CUE is caused by a wide variety of pathologies that require immediate and targeted treatment. However, there is little empirical data guiding rational and efficient management of CUE. We present a detailed investigation on the causes of CUE in patients presenting to the ED of a university hospital. Methods One thousand twenty-seven consecutive ED patients with CUE were enrolled. Applying a retrospective observational study design, we analyzed all clinical, laboratory and imaging findings resulting from a standardized emergency work-up of each patient. Following a predefined protocol, we identified main and accessory coma-explaining pathologies and related these with (i.a.) GCS and in-hospital mortality. Results On admission, 854 of the 1027 patients presented with persistent CUE. Their main diagnoses were classified into acute primary brain lesions (39%), primary brain pathologies without acute lesions (25%) and pathologies that affected the brain secondarily (36%). In-hospital mortality associated with persistent CUE amounted to 25%. 33% of patients with persistent CUE presented with more than one coma-explaining pathology. In 173 of the 1027 patients, CUE had already resolved on admission. However, these patients showed a spectrum of main diagnoses similar to persistent CUE and a significant in-hospital mortality of 5%. Conclusion The data from our cohort show that the spectrum of conditions underlying CUE is broad and may include a surprisingly high number of coincidences of multiple coma-explaining pathologies. This finding has not been reported so far. Thus, significant pathologies may be masked by initial findings and only appear at the end of the diagnostic work-up. Furthermore, even transient CUE showed a significant mortality, thus rendering GCS cutoffs for selection of high- and low-risk patients questionable. Taken together, our data advocate for a standardized diagnostic work-up that should be triggered by the emergency symptom CUE and not by any suspected diagnosis. This standardized routine should always be completed - even when initial coma-explaining diagnoses may seem evident.

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Hypertension in specific conditions/co-morbidities

ESC CardioMed ◽

10.1093/med/9780198784906.003.0571_update_001 ◽

2018 ◽

pp. 2465-2473

Author(s):

Enrico Agabiti Rosei ◽

Maria Lorenza Muiesan ◽

Massimo Salvetti

Keyword(s):

Risk Factors ◽

Heart Failure ◽

Age Groups ◽

Optimal Management ◽

Hypertensive Patients ◽

Accurate Evaluation ◽

Associated Conditions ◽

Diagnostic Work ◽

Work Up ◽

Diagnostic Work Up

The optimal management of hypertensive patients requires accurate evaluation of cardiovascular risk factors and co-morbidities. The therapeutic approach to hypertension may, in fact, be significantly different according to associated conditions. Among them, the presence of coronary heart disease, heart failure, cerebrovascular disease, chronic kidney disease, and specific age groups deserve special attention. In this chapter, the initial diagnostic work-up, the thresholds and targets for treatment, and the preferred drugs in specific conditions/co-morbidities will be briefly discussed.

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Epidemiology of heart failure and trends in diagnostic work-up: a retrospective, population-based cohort study in Sweden

Clinical Epidemiology ◽

10.2147/clep.s170873 ◽

2019 ◽

Vol Volume 11 ◽

pp. 231-244 ◽

Cited By ~ 7

Author(s):

Krister Lindmark ◽

Kurt Boman ◽

Mona Olofsson ◽

Michael Törnblom ◽

Aaron Levine ◽

...

Keyword(s):

Heart Failure ◽

Cohort Study ◽

Population Based ◽

Diagnostic Work ◽

Work Up ◽

Diagnostic Work Up

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Hypertension in specific conditions/co-morbidities

ESC CardioMed ◽

10.1093/med/9780198784906.003.0571 ◽

2018 ◽

pp. 2465-2473

Author(s):

Enrico Agabiti Rosei ◽

Maria Lorenza Muiesan ◽

Massimo Salvetti

Keyword(s):

Risk Factors ◽

Heart Failure ◽

Age Groups ◽

Optimal Management ◽

Hypertensive Patients ◽

Accurate Evaluation ◽

Associated Conditions ◽

Diagnostic Work ◽

Work Up ◽

Diagnostic Work Up

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Heart failure in the elderly: A geriatric syndrome. Picture of the modern situation

Monaldi Archives for Chest Disease ◽

10.4081/monaldi.2019.1031 ◽

2019 ◽

Vol 89 (1) ◽

Author(s):

Valentina Fagotto ◽

Alessandro Cavarape ◽

Alessandro Boccanelli

Keyword(s):

Heart Failure ◽

Older Patients ◽

Clinical Presentation ◽

The Elderly ◽

Geriatric Syndrome ◽

Diagnostic Work ◽

Patient’S History ◽

Work Up ◽

Diagnostic Work Up

Among the older patients’ cohort, the aetiology of heart failure is peculiar and differs in many ways from the younger one, both in its epidemiology, diagnostic work-up and clinical presentation. Focusing on this population, we could assume that heart failure is a real geriatric syndrome, characterized by several features, which coexist with other comorbidities and require specific and targeted cares. It is therefore necessary to examine the global burden of heart failure and the patient’s history rather than the causal cardiomyopathy - frequently more than one in the elderly - facing with the condition, bearing in mind the quality of life even before its duration.

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Pubic Osteomyelitis after Treatment for Prostate Cancer A Case Report and Review of the Literature

Journal of Orthopedics & Bone Disorders ◽

10.23880/jobd-16000164 ◽

2018 ◽

Vol 2 (3) ◽

pp. 1-4

Author(s):

Els Van Nieuwenhuyse

Keyword(s):

Prostate Cancer ◽

Laboratory Tests ◽

Medical Condition ◽

Rare Complication ◽

Treatment Options ◽

Review Of The Literature ◽

Surgical Modality ◽

Diagnostic Work ◽

Work Up ◽

Diagnostic Work Up

Osteomyelitis pubis is a known, rare complication related with the treatment of prostate cancer. It can occur after surgery, radiotherapy and after ultrasound therapy. The latency between the treatment modality and the onset of the osteomyelitis is different for all treatment options. Symptoms are mostly subtle and non - specific, causing a delay in the diagnosis. For the diagnostic work - up, clinical examination, laboratory tests and medical imaging are necessary. The irrevocable diagnosis will be made by culture of a bone aspirate. Treatments consist of antibiotic therapy and surgery. The medical condition of the patient and the location of the infection determine the type and extent of the surgical modality.

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Dietary hyperthyroidism in a Rottweiler

Vlaams Diergeneeskundig Tijdschrift ◽

10.21825/vdt.v83i6.16629 ◽

2014 ◽

Vol 83 (6) ◽

pp. 306-311 ◽

Cited By ~ 3

Author(s):

S. Cornelissen ◽

K. De Roover ◽

D. Paepe ◽

M. Hesta ◽

E. Van der Meulen ◽

...

Keyword(s):

Clinical Case ◽

Bacterial Contamination ◽

Clinical Symptoms ◽

Clinical Signs ◽

Dietary History ◽

Total Thyroxine ◽

Diagnostic Work ◽

Work Up ◽

Complete History ◽

Diagnostic Work Up

In this report, a clinical case of dietary hyperthyroidism in a dog is described. An elevenmonth- old, male, intact Rottweiler was presented because of panting, weight loss and increased serum total thyroxine concentration. A complete history revealed that the dog was fed a bone and raw food diet, which made dietary induced hyperthyroidism very likely. Other possible differentials were excluded after a thorough diagnostic work-up. Finally, after changing towards a traditional commercial maintenance diet, the clinical symptoms resolved and thyroid blood values normalized. In every dog with an increased serum total thyroxine concentration, with or without clinical signs of hyperthyroidism, a thorough dietary history should be obtained. Owners should be informed that raw food diets tend to be nutritionally imbalanced, carry the risk of bacterial contamination, and have other safety problems. Therefore, veterinarians should recommend against feeding these diets.

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