1/5. Surgical excision of the tendon xanthoma in familial hypercholesterolemia--a case report.Familial hypercholesterolemia is an autosomal dominant disorder characterized by increased low-density lipoprotein cholesterol, premature atherosclerosis and tendon xanthomas. Genetic studies reveal familial hypercholesterolemia to be a dysfunction of LDL receptor gene on cell surface. Recently various mutations in the LDL receptor gene have been reported. When dna method is not available, the occurrence of tendon xanthomas, an isolated elevation of plasma cholesterol, with a normal concentration of plasma triglycerides virtually establishes the diagnosis of familial hypercholesterolemia. In this report, a 42-year-old male had tendon xanthoma at extensor surface of metacarpophalangeal joint of his right hand, olecranon of the left elbow and both knees, and Achilles tendons. The tendon xanthoma was excised for cosmetic reasons, and the wound healing was slower than average in this case. We suggest that before suture removal, wound healing must be complete. It is important that the hand surgeon recognize that tendon xanthoma is a physical sign of a potentially life-threatening disorder to the patient as well as his family, and that this disorder may respond favorably to early examination and management.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/5. Interventional treatment of multiple vascular involvement in young male with heterozygous familial hypercholesterolemia.We report a case of 31 year old man with heterozygous familial hypercholesterolemia and excessive tobacco use leading to acute myocardial infarction as the first manifestation of premature atherosclerosis. The patvent was treated by primary PTCA of occluded first marginal artery and at this time an attempt of recanalisation of occluded LAD was unsuccessful. The patient was referred for mini coronary bypass graft of the LIMA to LAD. During evaluation of carotid arteries we found a significant stenosis of the left internal carotid artery and occlusion of the left subclavian artery which made the use of LIMA unsuitable. Therefore, another attempt of PTCA of the occluded LAD was performed, this time with success. Hence PTA of the occluded subclavian artery was performed with good result. The patient was treated with the standard therapy of CAD and combined lipid lowering agents with significant reduction of plasma cholesterol. However, 2 years after the first MI, he suddenly died after swimming at the age of 31. In this patient the risk of premature CAD was increased by the presence of another powerful risk factor--the excessive tobacco use. Acute physical exercise probably acted as a trigger of acute coronary events at the time of both MI. Interventional methods were very effective in the treatment of multiple atherosclerotic lesions in this patient and provided significant relief of symptoms. Treatment of heterozygous FH is briefly discussed in this article.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/5. Pinpoint skin lesions in a familial hypercholesterolaemia homozygote.The case is reported of a 2-y-old girl referred to the outpatient lipid clinic because of a tiny cutaneous xanthoma on the dorsum of the left foot and a family history of hyperlipidaemia and coronary heart disease (CHD). fasting serum total cholesterol levels were remarkably high (27.1 mmol l(-1), 1050 mg dl(-1)) and dna analysis confirmed homozygous familial hypercholesterolaemia (class II mutation). serum lipids were not affected by dietary intervention and cholestyramine treatment, so low-density lipoprotein apheresis was scheduled to commence at the age of 4 y. Conclusion: An early lipid profile determination should be performed in children with a family history of premature CHD, since the physical examination may be unremarkable even in cases of severe hyperlipidaemia during the first years of life.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/5. Regression of achilles tendon xanthomas evaluated by CT scan after hypolipidemic treatment with simvastatin. A case report.Familial hypercholesterolemia (FH) is a relatively common autosomal monogenic disease with dominant inheritance and threefold to fourfold increase in relative risk of cardiovascular death in untreated patients. For a "definitive" clinical diagnosis of FH the Simon Broome Register proposes the presence of tendon xanthomas as a key feature. However, detection of tendon xanthomas by physical examination is subjective and difficult to use for follow-up purposes. Several instrumental methods have been reported to be more sensitive than physical examination for the evaluation of xanthomas. The present case illustrates the usefulness of computed tomography (CT) to detect xanthomas in the Achilles tendons (XAT) and their regression in response to hypolipidemic drug treatment in a heterozygous FH patient. As XAT are atherosclerotic plaque-like depositions of lipids it is likely that their progression or regression follows the behavior of vascular atherosclerotic lesions.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
5/5. A case of familial hypercholesterolemia; secession from LDL-apheresis by the drug treatment with potent statin and resin.Low density lipoprotein (LDL)-apheresis is a useful tool for the treatment of familial hypercholesterolemia (FH) with coronary artery disease (CAD). However, it gives economic, physical and mental burdens for the patients. We reports a case of FH in whom LDL-apheresis treatment was seceded with drug treatment with a potent statin and bile acid-sequestering resin. A 54-year-old woman was admitted for evaluation of atherosclerotic lesion after 4 years of LDL-apheresis and 1 year of drug medication with a potent statin, atorvastatin and resin, cholestimide with coronary angiography. She had been diagnosed as heterozygous FH when she was 46 years old. Oral medication was initiated at the outpatient clinic. LDL-cholesterol (C) level was not successfully controlled despite the administration of a statin, pravastatin, a fibrate, clinofibrate and probucol at maximum doses Concomitantly. Therefore, as combination therapy, LDL-apheresis was introduced in May 1997. However, the patient strongly complained of the economic, physical, and mental burdens of LDL-apheresis and requested discontinuation of apheresis. Therefore, LDL-apheresis was discontinued in July 2000, and oral medication was subsequently changed to a combination of atorvastatin and cholestimide, resulting in successful control of serum LDL-C level by oral medication alone. We compared coronary arteriographic findings between 1997 and 2001. No advancement of lesions was observed. We think that strong drug treatment can secede from the LDL-apheresis for treatment of patients with FH.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |