Familial hypercholesterolemia: A review

Varghese, Mithun J.

doi:10.4103/0974-2069.132478

Cited by 76 publications

(70 citation statements)

References 84 publications

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“…Adicionalmente, pueden cursar con síntomas articulares como tendinitis y artralgias, así como la aparición de xantomas cutáneos al nacimiento o en la infancia temprana (39). La mayoría de los pacientes homocigotos sin tratamiento fallecen antes de los 30 años de vida.…”

Section: Glucogenosisunclassified

“…Los pacientes heterocigotos generalmente son asintomáticos; sin embargo, pueden cursar con una historia de hipercolesterolemia severa desde la infancia y tardíamente pueden desarrollar xantelasmas o xantomas (39). Para el diagnóstico de las formas homocigotas y heterocigotas, el hallazgo fundamental son los niveles de colesterol en ausencia de causas secundarias de hipercolesterolemia; pero el diagnóstico definitivo solo podrá hacerse con la confirmación molecular dada por el análisis de los genes LDLR, APOB, o PCSK9 (40).…”

Section: Glucogenosisunclassified

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Guía colombiana para el diagnóstico de la deficiencia de lipasa ácida

Escobar

Montoya

Bermejo

et al. 2017

Rev. Colomb. Gastroenterol.

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ResumenIntroducción: la deficiencia de lipasa ácida lisosomal (LAL-D) es una entidad de herencia autosómica recesiva que lleva a la acumulación de esteres de colesterol y triglicéridos en el hígado, bazo y otros órganos. La edad de inicio y la tasa de progresión son muy variables, lo que posiblemente sea explicado por las mutaciones presentes en el gen LIPA. Las manifestaciones clínicas son las mismas que para otras patologías hepáticas, cardiovasculares y metabólicas, lo que hace difícil reconocerla en la práctica clínica. Objetivo: proveer una guía que permita a los clínicos reconocer los principales grupos de riesgo en los cuales se debe sospechar de LAL-D y mejorar su diagnóstico. Metodología: este documento se diseñó como un consenso de expertos en el cual participaron médicos especialistas en gastroenterología, hepatología, endocrinología, genética, patología y pediatría. Se realizó una revisión de la literatura acerca de las manifestaciones clínicas y de las herramientas para el diagnóstico de LAL-D y se siguió la metodología de técnica de grupo nominal. Resultados: se generaron algoritmos diagnósticos por consenso para cada uno de los grupos de riesgo, que facilitaran la sospecha y el diagnóstico de LAL-D. Conclusiones: esta guía propone algoritmos para el diagnóstico de LAL-D con base en el consenso clínico, que buscan optimizar la ruta diagnóstica en los pacientes con dicha patología. Palabras claveDeficiencia de lipasa ácida, enfermedad por depósito de esteres de colesterol, enfermedad de Wolman, dislipidemia, hepatomegalia. AbstractIntroduction: Lysosomal acid lipase deficiency (LAL-D) is an inherited autosomal recessive entity that leads to the accumulation of cholesterol and triglyceride esters in the liver, spleen and other organs. The age of onset and rate of progression vary greatly, possibly explained by mutations of the LIPA gene. Clinical manifestations are the same as those of other hepatic, cardiovascular and metabolic pathologies which makes it difficult to recognize in clinical practice. Objective: The objectives of these guidelines is to help clinicians recognize the major groups at risk for LAL-D and to improve its diagnosis. Methodology: This document was designed as a consensus of experts in gastroenterology, hepatology, endocrinology, genetics, pathology and pediatrics. A review of the literature regarding clinical manifestations and tools for diagnosis of LAL-D was conducted and the nominal group technique was followed. Results: Diagnostic algorithms which facilitate suspicion and diagnosis of LAL-D were generated by consensus for each of the risk groups. Conclusions: This guide proposes algorithms for the diagnosis of LAL-D based on clinical consensus. The algorithms seek to optimize diagnosis for patients with this pathology.

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Section: Glucogenosisunclassified

Guía colombiana para el diagnóstico de la deficiencia de lipasa ácida

Escobar

Montoya

Bermejo

et al. 2017

Rev. Colomb. Gastroenterol.

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“…Baseline levels, then repeat testing should be done at 1-3 months after drug initiation and then yearly. If CK levels reach five times and AST or ALT three times the upper limit of normal, a 3-month drug-free holiday should be initiated with reintroduction of the same drug at a lower dose or a different statin if levels return to baseline (29). …”

Section: Treatmentmentioning

confidence: 99%

“…Liver transplantation is now used primarily in children with homozygous FH when apheresis is not an option or with concurrent heart transplantation. (13, 45) Its use, however, is limited due to risk of transplant surgery and the limited number of donor livers (13, 24, 29). Partial ileal bypass is rarely used and works by interrupting enterohepatic bile acid circulation (13, 24).…”

Section: Surgical Therapymentioning

confidence: 99%

Familial Hypercholesterolemia

Bouhairie

Goldberg

2015

Cardiology Clinics

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Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen and LDL apheresis are treatments that can lower LDL cholesterol levels. Early treatment can lead to substantial reduction of cardiovascular events and death in patients with FH. It is important to increase awareness of this disorder in physicians and patients in order to reduce the burden of this disorder.

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“…[12] This autosomal dominant condition is characterized by severe dyslipidemia and predisposes to premature coronary heart disease. [3] This may be inherited either as homozygous (1 in 1 million) or heterozygous (1 in 500) condition.…”

mentioning

confidence: 99%

Low-density lipoprotein apheresis in a pediatric patient of familial hypercholesterolemia: Primi experientia from a tertiary care center in North India

Dogra

Goyal

Khadgawat

et al. 2017

Asian J Transfus Sci

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Familial hypercholesterolemia (FH) is an autosomal dominant disorder due to mutation of apolipoprotein-B receptor gene causing severe dyslipidemia. Lifestyle modification and medical treatment attenuate the disease progression, but as these fail to control the blood cholesterol levels, low-density lipoprotein (LDL) apheresis comes forth as a treatment option. To the best of our knowledge, the following is the very first case of pediatric FH being treated by LDL-apheresis to be reported from India. A severely malnourished female child presented with yellowish skin lesions over different parts of the body, viz., bilateral Achilles tendon, both knees, elbows, both pinnae, and outer canthus of both eyes. She had a strong family history of borderline hypercholesterolemia and was diagnosed as a case of FH. She was maintained on diet modification. LDL-apheresis was planned as the cholesterol levels were not controlled with the diet modificationt. However, unavailability of an appropriate kit in India for LDL-apheresis led to the use of the modified PL1 kit meant for therapeutic plasma exchange procedures. We conducted two sessions of LDL-apheresis. After the first session, the LDL-cholesterol (LDL-C) level fell by 75.9% and the total cholesterol fell by 73.5%. A second procedure led to a decline in total cholesterol level by 18.6% and LDL-C by 19.46%. Subsequently, she was advised diet modification and statin therapy with regular follow-up after every 6 months. Thus, the cascade filtration technique is a safe and effective treatment option for removing the undesired lipoproteins.

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Familial hypercholesterolemia: A review

Cited by 76 publications

References 84 publications

Guía colombiana para el diagnóstico de la deficiencia de lipasa ácida

Guía colombiana para el diagnóstico de la deficiencia de lipasa ácida

Familial Hypercholesterolemia

Low-density lipoprotein apheresis in a pediatric patient of familial hypercholesterolemia: Primi experientia from a tertiary care center in North India

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