Dermatology spot diagnosis

Maheux, Pierre

doi:10.1136/pgmj.2005.035469

Cited by 2 publications

(7 citation statements)

References 39 publications

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“…Xanthomas palmaris are orange-yellow discolorations of the palmar creases, considered pathognomonic for dysbetalipoproteinemia, 4,7 but found in only 20% of patients. 5 In the absence of palmar or tuberous xanthomas, the specific diagnosis is more difficult and requires lipoprotein electrophoresis to demonstrate the broad beta-band that denotes beta-VLDL. 4 The VLDL cholesterol/triglycerides ratio is a useful screening test as well; in type III hyperlipoproteinemia, when hyperlipidemia is present, this ratio is usually greater than 0.3.…”

Section: Commentarymentioning

confidence: 99%

“…5 Homozygosis for the apoE2 isoform occurs at a frequency of about 1 in 100 in the general population. Despite this high frequency, dysbetalipoproteinemia is relatively rare, occurring in about 1 in 20 apoE2 homozygotes, with an overall prevalence of 1 in 10,000.…”

Section: Commentarymentioning

confidence: 99%

“…6,7 Clinical manifestations of this hyperlipoproteinemia appear to require the presence of a secondary factor, such as a metabolic derangement. 6 It can be caused by lipoprotein overproduction syndromes, such as obesity, diabetes mellitus, or alcohol abuse, 4,5,8 or by disorders that further impair lipoprotein clearance, such as hypothyroidism. 5,6,8 In conditions characterized by VLDL overproduction, the increased generation of remnant particles through catabolism of VLDL overwhelms the ability to clear these remnants from the plasma.…”

Section: Commentarymentioning

confidence: 99%

“…6 It can be caused by lipoprotein overproduction syndromes, such as obesity, diabetes mellitus, or alcohol abuse, 4,5,8 or by disorders that further impair lipoprotein clearance, such as hypothyroidism. 5,6,8 In conditions characterized by VLDL overproduction, the increased generation of remnant particles through catabolism of VLDL overwhelms the ability to clear these remnants from the plasma. Because the clinical manifestations are highly sensitive to factors that increase hepatic lipoprotein production, this disorder is usually responsive to therapeutic modalities directed at decreasing hepatic lipoprotein production, such as dietary modifications, weight loss, and alcohol consumption cessation.…”

Section: Commentarymentioning

confidence: 99%

“…Because the clinical manifestations are highly sensitive to factors that increase hepatic lipoprotein production, this disorder is usually responsive to therapeutic modalities directed at decreasing hepatic lipoprotein production, such as dietary modifications, weight loss, and alcohol consumption cessation. 5 All patients with lipoprotein disorders should undertake a comprehensive clinical evaluation for the presence of corneal arcus, corneal opacification, xanthelasma palpebrarum, and xanthomas in the extensor tendons, including palms, elbows, knees, and Achilles tendons. 9 Xanthomas are skin lesions that are present in more than half of affected subjects.…”

Section: Commentarymentioning

confidence: 99%

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Sheehan syndrome and dysbetalipoproteinemia: An unusual association

Radaeli

Paiolo

Almeida

2016

Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo

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a b s t r a c tThe dysbetalipoproteinemia is a rare genetic disorder which usually requires the presence of a metabolic factor for expression of their phenotype. We report a patient with this disease in an age group different from usual, probably triggered by a postpartum hypopituitarism. This association is described in just a few case reports in the medical literature. Síndrome de Sheehan e disbetalipoproteinemia: uma incomum associaç ãoPalavras-chave: Síndrome de Sheehan Disbetalipoproteinemia Xantoma palmar r e s u m o A disbetalipoproteinemia é uma desordem genética rara que usualmente requer a presenç a de um fator metabólico para a expressão do seu fenótipo. Reportamos uma paciente com esta doenç a em uma idade diferente da usual, provavelmente desencadeada por um hipopituitarismo pós-parto. Esta associaç ão tem poucos relatos de caso na literatura médica.

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Section: Commentarymentioning

confidence: 99%

Section: Commentarymentioning

confidence: 99%

Section: Commentarymentioning

confidence: 99%

Section: Commentarymentioning

confidence: 99%

Section: Commentarymentioning

confidence: 99%

See 3 more Smart Citations

Sheehan syndrome and dysbetalipoproteinemia: An unusual association

Radaeli

Paiolo

Almeida

2016

Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo

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Dysbetalipoproteinaemia: A mixed hyperlipidaemia of remnant lipoproteins due to mutations in apolipoprotein E

Marais

Solomon

Blom

2014

Critical Reviews in Clinical Laboratory Sciences

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Atherosclerosis is strongly associated with dyslipoproteinaemia, and especially with increasing concentrations of low-density lipoprotein and decreasing concentrations of high-density lipoproteins. Its association with increasing concentrations of plasma triglyceride is less clear but, within the mixed hyperlipidaemias, dysbetalipoproteinaemia (Fredrickson type III hyperlipidaemia) has been identified as a very atherogenic entity associated with both premature ischaemic heart disease and peripheral arterial disease. Dysbetalipoproteinaemia is characterized by the accumulation of remnants of chylomicrons and of very low-density lipoproteins. The onset occurs after childhood and usually requires an additional metabolic stressor. In women, onset is typically delayed until menopause. Clinical manifestations may vary from no physical signs to severe cutaneous and tendinous xanthomata, atherosclerosis of coronary and peripheral arteries, and pancreatitis when severe hypertriglyceridaemia is present. Rarely, mutations in apolipoprotein E are associated with lipoprotein glomerulopathy, a condition characterized by progressive proteinuria and renal failure with varying degrees of plasma remnant accumulation. Interestingly, predisposing genetic causes paradoxically result in lower than average cholesterol concentration for most affected persons, but severe dyslipidaemia develops in a minority of patients. The disorder stems from dysfunctional apolipoprotein E in which mutations result in impaired binding to low-density lipoprotein (LDL) receptors and/or heparin sulphate proteoglycans. Apolipoprotein E deficiency may cause a similar phenotype. Making a diagnosis of dysbetalipoproteinaemia aids in assessing cardiovascular risk correctly and allows for genetic counseling. However, the diagnostic work-up may present some challenges. Diagnosis of dysbetalipoproteinaemia should be considered in mixed hyperlipidaemias for which the apolipoprotein B concentration is relatively low in relation to the total cholesterol concentration or when there is significant disparity between the calculated LDL and directly measured LDL cholesterol concentrations. Genetic tests are informative in predicting the risk of developing the disease phenotype and are diagnostic only in the context of hyperlipidaemia. Specialised lipoprotein studies in reference laboratory centres can also assist in diagnosis. Fibrates and statins, or even combination treatment, may be required to control the dyslipidaemia.

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Dermatology spot diagnosis

Cited by 2 publications

References 39 publications

Sheehan syndrome and dysbetalipoproteinemia: An unusual association

Sheehan syndrome and dysbetalipoproteinemia: An unusual association

Dysbetalipoproteinaemia: A mixed hyperlipidaemia of remnant lipoproteins due to mutations in apolipoprotein E

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