Related Experiment Video
Updated: Feb 8, 2026
09:09
In Silico Clinical Trials for Cardiovascular Disease
Published on: May 27, 2022
2.3K
Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients
Patryk Lipiński1, Agnieszka Ługowska2, Ekaterina Y Zakharova3
1Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute.
Journal of Pediatric Gastroenterology and Nutrition
|June 30, 2018
Summary
Cholesteryl ester storage disease (CESD), a form of lysosomal acid lipase deficiency (LAL-D), most commonly presents with hepatomegaly. Early recognition of hepatomegaly and dyslipidemia is key for timely CESD diagnosis.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Lysosomal acid lipase deficiency (LAL-D) is a rare inherited disorder of lipid metabolism.
- It presents as either severe Wolman disease or attenuated cholesteryl ester storage disease (CESD).
- CESD is characterized by lipid accumulation in various organs.
Purpose of the Study:
- To describe the clinical presentation of CESD, focusing on initial symptoms.
- To propose a diagnostic algorithm for CESD.
- To highlight the delay in diagnosis for CESD patients.
Main Methods:
- Observational, single-center study.
- Involved 19 Polish patients with late-onset LAL-D (CESD).
- Analysis of clinical presentation, diagnostic markers (LAL activity, LIPA gene mutations).
Main Results:
- Mean age of first symptoms: 4 years 6 months; mean age at diagnosis: 7 years 2 months.
- Hepatomegaly was the initial abnormality in all patients (100%).
- Dyslipidemia and elevated transaminases were common findings; diagnosis delayed by ~3 years.
Conclusions:
- Hepatomegaly is the most frequent presenting sign of CESD.
- Hepatomegaly combined with characteristic dyslipidemia (elevated total/LDL cholesterol, triglycerides; normal/low HDL) are key diagnostic findings.
- Early identification of these signs can improve diagnostic timelines.
Related Concept Videos
01:22Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
635
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
635
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
451
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
451
01:28Peptic Ulcer Disease III: Clinical Manifestations and Diagnostic Studies
620
Peptic ulcer disease (PUD) presents with diverse symptoms depending on the location and severity of the ulcer. Clinical manifestations of peptic ulcer include dull pain and a burning sensation in the mid-epigastric region.
Few clinical manifestations differentiate gastric ulcers from duodenal ulcers. Distinctions in the location, timing, and pain relief are crucial for healthcare providers in differentiating between gastric and duodenal ulcers during clinical assessments.
Few clinical manifestations differentiate gastric ulcers from duodenal ulcers. Distinctions in the location, timing, and pain relief are crucial for healthcare providers in differentiating between gastric and duodenal ulcers during clinical assessments.
620
01:19Pericarditis II: Clinical Features and Diagnostic Tests
341
Pericarditis is distinguished by inflammation of the pericardium, the fibrous sac that encases the heart. It can be acute, lasting less than six weeks, or chronic, persisting for over three months. Understanding its clinical manifestations and diagnostic findings is crucial for timely and effective management.Clinical ManifestationsWhile pericarditis can be asymptomatic, it usually presents with characteristic symptoms such as:Chest Pain: The most characteristic symptom of pericarditis is chest...
341
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
548
Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
548
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
371
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
371