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Articular manifestations of familial hypercholesterolaemia
Insights
Familial hypercholesterolaemia, a genetic disorder affecting cholesterol removal, frequently causes joint pain and inflammation. Articular symptoms can be the initial sign of this condition, even in its less severe heterozygous form.
Area of Science:
- Cardiology
- Rheumatology
- Genetics
Background:
- Familial hypercholesterolaemia (FH) is a genetic disorder characterized by impaired low-density lipoprotein (LDL) metabolism.
- It leads to elevated LDL cholesterol levels and premature coronary artery disease.
- Tendinous xanthomata are a classic clinical sign of FH.
Purpose of the Study:
- To investigate the prevalence and types of articular manifestations in patients with heterozygous familial hypercholesterolaemia (HeFH).
- To determine if joint symptoms can be an early indicator of HeFH.
Main Methods:
- Observational study of 73 patients diagnosed with heterozygous familial hypercholesterolaemia.
- Clinical assessment and classification of reported articular symptoms.
Main Results:
- Approximately 40% of patients with HeFH experienced at least one episode of articular symptoms.
- The most common manifestations included Achilles pain (18%), Achilles tendinitis (11%), oligoarticular arthritis (7%), and polyarticular/rheumatic fever-like arthritis (4%).
Conclusions:
- Articular manifestations are common and diverse in patients with heterozygous familial hypercholesterolaemia.
- These joint symptoms can precede other recognized signs of FH, serving as a potential early diagnostic clue.
Abstract:
Familial hypercholesterolaemia is characterised by a decreased removal of low density lipoproteins and premature coronary artery disease. Tendinous xanthomata are a hallmark of the disease. The affected joints may also be the sites of inflammation and pain. Arthropathy has been associated mainly with the homozygous form of familial hypercholesterolaemia, but it is also known to occur in the heterozygous form. We report on the articular manifestations in 73 patients with heterozygous familial hypercholesterolaemia. About 40% of these patients had at least one episode of articular symptoms. The observed articular manifestations may be classified into four types: Achilles pain (18%), Achilles tendinitis (11%), oligoarticular arthritis (7%), polyarticular or rheumatic fever-like arthritis (4%). It is concluded that in heterozygous familial hypercholesterolaemia articular manifestations are frequent, diverse, and may be the first symptom of this metabolic disorder.