Related Experiment Video
Updated: Sep 15, 2025
10:56
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
8.2K
Familial Hypercholesterolemia Mimicking Rheumatoid Arthritis: A Rare Case From Pakistan
Sonia Golani1, Sulhera Khan1,2, Zara Saeed1
1Dermatology, Dow University of Health Sciences, Civil Hospital Karachi, Karachi, PAK.
Cureus
|July 18, 2025
Summary
Familial hypercholesterolemia (FH), a genetic lipid disorder, presented unusually with rheumatoid arthritis-like symptoms in a Pakistani woman. Early diagnosis via clinical criteria is crucial, especially in resource-limited settings.
Area of Science:
- Cardiology
- Genetics
- Dermatology
Background:
- Familial hypercholesterolemia (FH) is an inherited disorder causing high LDL cholesterol and premature cardiovascular disease.
- Cutaneous manifestations like tendon xanthomas are common in FH.
Observation:
- A young Pakistani woman presented with extensive xanthomas and joint deformities mimicking rheumatoid arthritis.
- Laboratory tests showed elevated LDL cholesterol, with negative autoimmune markers.
- Radiography revealed xanthomatous infiltration and acro-osteolysis in digits.
Findings:
- Diagnosis of FH was confirmed using clinical scoring systems (Simon-Broome, DLCN, MEDPED) due to lack of genetic testing access.
- The patient received high-dose statin therapy and lifestyle advice.
- PCSK9 inhibitors were considered but limited by cost and availability.
Implications:
- This case underscores the importance of clinical assessment and scoring tools for FH diagnosis in underserved regions.
- It highlights a rare rheumatoid-like presentation of FH, the first reported in Pakistan.
- Emphasizes the need for accessible FH diagnostics and treatments globally.
Related Concept Videos
01:23Rheumatic Heart Disease I: Introduction
46
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
46
01:22Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
65
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...
65
01:21Rheumatic Heart Disease III: Medical Management
33
Rheumatic heart disease (RHD) management can be divided into two main strategies: prevention and long-term management.Primary PreventionPrimary prevention focuses on timely diagnosis and management of group A streptococcal pharyngitis to prevent acute rheumatic fever. The most widely used antibiotic for treating this condition is intramuscular benzathine penicillin G.Acute Rheumatic Fever TreatmentThe primary treatment goal for a patient diagnosed with acute rheumatic fever is to suppress the...
33
01:11Genome-wide Association Studies-GWAS
14.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
14.3K
01:22Pericarditis I: Introduction
24
Pericarditis is defined as the inflammation of the pericardium, the thin, sac-like membrane surrounding the heart. This condition can cause significant chest pain and other symptoms, often necessitating medical intervention. The pericardium has two layers: the inner visceral layer and the outer parietal layer, separated by a small amount of fluid that reduces friction during heartbeats.Types of PericarditisPericarditis can be classified into several types based on the duration and nature of the...
24
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
40
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)...
40