Incidence of probable familial chylomicronemia syndrome in a Southern California population. (2023)

Selected articles (6)

  • Research Article

    National survey of endocrinologists and surgeons for active surveillance of low-risk papillary thyroid cancer

    Endocrine Practice, Volume 27, Issue 1, 2021, pp. 1-7

    Active surveillance for low-risk papillary thyroid cancer (PTC) was endorsed by American Thyroid Association guidelines in 2015. Attitudes and beliefs of physicians treating thyroid cancer regarding the active surveillance approach.

    A national survey of endocrinologists and surgeons who treat thyroid cancer was conducted from August to September 2017 via email from professional societies. This mixed-methods analysis reported attitudes toward potential factors influencing decision-making about active surveillance, beliefs about barriers and facilitators to its use, and reasons why clinicians would choose a surveillance strategy. CPT risk. Survey data on attitudes and beliefs were drawn from the Cabana Model of Barriers to Guideline Adherence and the Behavior Change Theoretical Domains Framework.

    Among the 345 respondents, 324 (94%) agreed that active monitoring was appropriate for at least some patients, 81% agreed that active monitoring was at least somewhat underutilized, and 76% said they would choose active monitoring . diagnosed with CPT ≤1 cm. Most respondents felt that the guidelines supporting active surveillance were too vague and the current supporting evidence too weak. Malpractice and financial concerns were identified as additional barriers to offering active surveillance. Respondents supported better sources of information and evidence as potential enablers for the provision of active surveillance.

    (Video) How is Familial Chylomicronemia Syndrome (FCS) diagnosed?

    Although there is general support among clinicians treating low-risk PTC for the active surveillance approach, there is reluctance to offer it due to a lack of strong evidence, guidelines and protocols.

  • Research Article

    Maintain professional meetings and improve telemedicine interactions with important virtual clinical values

    Endocrine Practice, Volume 27, Issue 1, 2021, pp. 77-79

  • Research Article

    Cancer prevalence and its relationship to disease activity in patients with acromegaly: the two-center experience

    Endocrine Practice, Volume 27, Issue 1, 2021, pp. 51-55

    Acromegaly is characterized by increased concentrations of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). Although animal studies have shown a link between these hormones and cancer risk, the results of human studies evaluating the incidence of cancer in acromegaly are inconsistent. Our aim was to investigate the incidence of malignancies in patients with acromegaly.

    Cancer risk was assessed in a cohort of 280 patients (male/female: 120/160, mean age: 50.93 ± 12.07 years) with acromegaly. Patients were classified into 2 groups based on the presence or absence of cancer. Standard incidence ratios compared to the general population were calculated.

    Out of 280 patients, cancer was diagnosed in 19 (6.8%) patients. 9 (47%) of them had thyroid cancer, which was the most common type of cancer. The standard incidence rates for all cancers were 0.8 (95% CI, 0.5-1.1) and 1.0 (95% CI, 0.8-1.3) in men and women, respectively. Compared with patients without cancer, the current age was higher in patients with cancer (59 [49–65] to 51 [42–59],P=.027). In contrast, age at diagnosis was similar in both groups. Not only were time to diagnosis and disease duration similar in both groups, but so were baseline and current GH and IGF-1 levels. The incidence of active disease was also similar between groups (32% to 23%;P=.394).

    Our results were inconsistent with studies suggesting that patients with acromegaly face an increased risk of cancer. In addition, there were similar baseline and current GH and IGF-1 levels in patients with acromegaly, with and without cancer.

    (Video) Making the Diagnosis: What's New in Familial Chylomicronemia Syndrome (FCS)? - LipidPALOOZA
  • Research Article

    Echocardiographic findings in patients with normocalcemic primary hyperparathyroidism compared with findings in patients with hypercalcemic primary hyperparathyroidism and controls

    Endocrine Practice, Volume 27, Issue 1, 2021, pp. 21-26

    There are no data on echocardiographic parameters in patients with normocalcemic primary hyperparathyroidism (HPNCH). We compared echocardiographic findings in postmenopausal women with NCPHPT with those in patients with hypercalcemic primary hyperparathyroidism (PHPT) and controls.

    (Video) Managing Expectations on Familial Chylomicronemia Syndrome (FCS) Genetics

    Seventeen consecutive Caucasian postmenopausal women with NCPHPT were compared with 20 women with hypercalcemic PHPT and 20 controls. Exclusion criteria were obesity, diabetes, renal failure and previous cardiovascular disease. Each patient underwent biochemical evaluation, bone densitometry and echocardiographic measurements. Patients with parathyroid disorders underwent a renal examination with ultrasound.

    Patients with PHPT had significantly higher mean total serum calcium, ionized calcium, 24-hour urine calcium, and parathyroid hormone and lower mean phosphorus levels compared with control subjects (allPAG< 0.05). The only differences between NCPHPT and PHPT patients were significantly lower total serum calcium, ionized calcium and 24-h urinary calcium and higher phosphorus levels in NCHPPH patients (allPAG< 0.05). The only biochemical difference between NCPHPT patients and controls was a higher mean level of parathyroid hormone in NCPHPT patients. There were no differences in cardiovascular risk factors between HPNCH and PHPT patients and controls. Arterial hypertension was the most frequent cardiovascular risk factor, diagnosed in 65% of patients with PHPT. This high prevalence was not statistically significant compared to that seen in PHNCH patients (59%) and controls (30%). Echocardiographic parameters did not differ between NCPHPT and PHPT patients and controls when subdivided by the presence of hypertension (ANOVA followed by Bonferroni correction).

    In a low cardiovascular risk population, we found no differences in cardiovascular risk factors and echocardiographic parameters between PHNCH and PHTP patients and controls.

  • Research Article

    PD-L1 expression in normal endocrine tissues is not elevated despite the high incidence of PD-1 inhibitor-associated endocrinopathy

    Endocrine Practice, Volume 27, Issue 1, 2021, pp. 34-37

    Treatment with immune checkpoint inhibitors often causes immune-related endocrine adverse events (irAEs) affecting the pituitary, thyroid, adrenal and parathyroid glands, and pancreas. The mechanism behind endocrine irAEs has not been fully elucidated, and it remains unclear why endocrine organs are so frequently affected. In this study, we evaluated immunostaining patterns for programmed death ligand 1 (PD-L1) in normal endocrine tissues to determine whether increased expression may explain the predilection for endocrinopathies in patients treated with programmed cell death inhibitors.

    Formalin-fixed, paraffin-embedded normal endocrine tissues (pituitary, thyroid, adrenal, pancreas, and parathyroid) were collected from our hospital's pathological tissue archive. Tissues were assessed for cytoplasmic and membranous PD-L1 immunostaining using the Dako 22C3 pharmDx assay on an automated staining platform.

    (Video) Diagnosing Familial hypercholesterlemia and Other Cholesterol Disorders

    We examined 49 endocrine tissues, including 12 thyroid, 5 pancreatic, 17 adrenal, 5 parathyroid and 10 pituitary samples. Samples with less than 1% PD-L1-positive membranous cells were considered negative, while those with more than 1% membranous PD-L1 staining were considered positive. L1-positive cells with the same cutoff of 1%. None of the endocrine tissues showed more than 1% PD-L1 positivity in the relevant cells.

    Although our results do not indicate a role for PD-L1 expression in the pathogenesis of endocrine irAEs, they may serve as a basis for future studies that further investigate the mechanisms of autoimmune, inflammatory, or malignant endocrine conditions.

  • Research Article

    Transition-related discussions among young women with Turner syndrome: current practices and associated factors

    Endocrine Practice, Volume 27, Issue 1, 2021, pp. 56-62

    To examine current transition practices and factors associated with the occurrence and timing of transition-related discussions among youth with Turner syndrome (TS).

    A retrospective chart review was conducted at a large pediatric academic center among women with TS seen between 12 and 25 years of age. Medical/developmental characteristics, age at transition, documented discussions related to transition, and use of transition readiness assessment tools were summarized. Analyzes were conducted to examine age/appearance of arguments and associated factors.

    The records of 112 patients were reviewed. The mean age of TS diagnosis was 7.6 ± 5.8 years, and the mean age of those transferred from pediatric to adult care (n=21) was 20.1 ± 2.0 years. Only 22% of people had documented conversations about transition to adult care and no transition preparation tools were used. Most conversations about transition started between the ages of 11 and 15. Estrogen and cardiovascular counseling were common (84% and 75%, respectively). Less than half had discussions about reproduction (40%), lifestyle (43%) and psychosocial (12%). Cardiovascular conditions were associated with discussions about transition to adult care, and neurodevelopmental conditions were associated with psychosocial counseling. In those who transitioned to adult care, discussions about the transition took place in only half of the patients.

    (Video) "A Common Genetic Cause of High LDL Cholesterol" (Familial Combined Hyperlipidemia)

    Our findings highlight the need to develop and implement a standardized transition process for youth with TS, with particular attention to transition to adult care and reproductive, lifestyle, and psychosocial counseling. Using formal transition tools can also help prepare these girls for the transition to adult care.

© 2020 AACE. Published by Elsevier Inc. All rights reserved.


How many people have familial chylomicronemia syndrome? ›

Familial chylomicronemia syndrome (FCS) is a rare genetic disorder estimated to affect 1-2 individuals per million.

What is the prevalence of familial chylomicronemia syndrome FCS? ›

In contrast, HTG due to primary monogenic chylomicronemia or familial chylomicronemia syndrome (FCS) is a rare inherited condition with an estimated prevalence of 1/1,000,000 in the population although it is probably underrecognized and underdiagnosed (1).

What is the prevalence of familial Hyperchylomicronemia? ›

Familial chylomicromenia (FCS) has an estimated prevalence of 1/300,000 (ranging from 1/100,000 to 1/1,000,000 in Europe and North America).

What is the prevalence of multifactorial chylomicronemia syndrome? ›

The polygenic/multifactorial form is estimated to occur in 1 in every 600 individuals, while the prevalence of monogenic chylomicronemia is 1:1,000,000 [47]. The latter prevalence is similar to that of the homozygous form of familial hypercholesterolemia.

What percent of the population has familial hypercholesterolemia? ›

Familial hypercholesterolemia (FH) is a genetic disorder that affects about 1 in 250 people and increases the likelihood of having coronary heart disease at a younger age.

What is the population of familial hypercholesterolemia? ›

Familial hypercholesterolemia affects an estimated 1 in 200 to 1 in 250 people in most countries and is thought to be the most common inherited condition affecting the heart and blood vessels (cardiovascular disease).

How common is familial hypercholesterolemia in the United States? ›

Studies have estimated that the prevalence of heterozygous FH is 1 in 250 in the general population, both in the United States and globally.

How common is familial hypertriglyceridemia? ›

Familial hypertriglyceridemia is a genetic condition that causes the triglyceride levels in the blood to get too high. This relatively common condition affects about 1 in 500 people in the United States.

What drug is used for familial chylomicronemia syndrome? ›

The Food and Drug Administration (FDA) has granted Fast Track designation to olezarsen for the treatment of familial chylomicronemia syndrome (FCS). In FCS, mutations in the lipoprotein lipase gene lead to an accumulation of chylomicrons in plasma resulting in severe hypertriglyceridemia.

What ethnicity has familial hypercholesterolemia? ›

Familial hypercholesterolemia can affect anyone whose family carries the genetic mutation. However, it's found more frequently in those who are of French Canadian, Ashkenazi Jewish, Lebanese or Afrikaner (a South African ethnic group) descent.

What is the other name for familial chylomicronemia syndrome? ›

Familial chylomicronemia syndrome (FCS) is sometimes known as lipoprotein lipase deficiency (LPLD), Fredrickson Type 1 hyperlipoproteinemia, or familial hypertriglyceridemia. It is a hereditary, serious disease that prevents the body from breaking down fats.

What is the most common inherited lipid disorder? ›

Familial Hypercholesterolemia

FH is the most common monogenic inherited lipid disorder resulting in very high LDL-C levels and causing preventable premature cardiovascular death, present in approximately 1 in 3-500 individuals.

Which symptoms could indicate a rare disease called familial chylomicronemia syndrome FCS? ›

What are the symptoms of FCS? Regular bouts of pain in the abdomen (stomach area) – this can be mild or severe. Pain in the joints. Small, raised, fat-filled spots on the skin (called eruptive xanthomata) – these often appear on the buttocks, knees and arms, and improve when triglyceride levels are lowered.

What is familial chylomicronemia syndrome fast facts? ›

Fast Facts: Familial Chylomicronemia Syndrome: Raising awareness of a rare genetic disease. Familial chylomicronemia syndrome (FCS) is an ultra-rare genetic disorder characterized by the abnormal build-up of chylomicrons, the largest type of lipoprotein, which transport dietary fat from the gut to the rest of the body.

Is there a support group for familial chylomicronemia syndrome? › is the site for all Familial Chylomicronemia Syndrome (FCS) patients, caregivers and family members that offers information, resources and support.

What is the prevalence of HoFH in the US? ›

Affected populations

The frequency of HoFH across populations is estimated to be 1 in 1/160,000 to 1 250,000.

Is familial hypercholesterolemia high risk for COVID? ›

Patients with familial hypercholesterolemia (FH) are likely at increased risk for COVID-19 complications in the acute phase of the infection, and for a long time thereafter.

Where is familial hypercholesterolemia most common? ›

About 1 in 250 people have familial hypercholesterolemia. Only 1 in 160,000 to 250,000 people have the more severe type, which you inherit from both parents instead of one. However, FH is much more common (from 1 out of 67 people to 1 out of 100 people) among specific populations in Lebanon, South Africa and Lithuania.

How many people in the US have hypercholesterolemia? ›

Nearly 25 million adults in the United States have total cholesterol levels above 240 mg/dL. About 7% of U.S. children and adolescents ages 6 to 19 have high total cholesterol. High cholesterol has no symptoms, so many people don't know that their cholesterol is too high.

What is the difference between hypercholesterolemia and familial hypercholesterolemia? ›

Anyone can develop high cholesterol as they age, but FH is a genetic condition, passed on to you by one of your parents.

How common is hypercholesterolemia by age? ›

Prevalence was highest among adults aged 40–59 years (15.7%), followed by those aged ≥60 years (11.4%), and lowest among those aged 20–39 years (7.5%). Among men, the prevalence was highest among those aged 40–59 years (14.5%), followed by those aged 20–39 years (9.5%), and lowest among those aged ≥60 years (6.0%).

Can familial hypercholesterolemia show up later in life? ›

The genetic changes that cause familial hypercholesterolemia are inherited. The condition is present from birth, but symptoms may not appear until adulthood.

How long is the life expectancy of family hypercholesterolemia? ›

A: Without treatment, the life expectancy of those with familial hypercholesterolemia can be reduced by approximately 15-30 years. However, in people with homozygous familial hypercholesterolemia, the life expectancy may only be 20 years or less.

Is there a genetic test for familial hypercholesterolemia? ›

Genetic testing for familial hypercholesterolemia (FH) looks for inherited genetic changes in three different genes (LDLR, APOB, and PCSK9) known to cause FH. If your doctor suspects that you have FH or a family member has been diagnosed with FH, your doctor may refer you for genetic counseling and testing for FH.

What is the incidence of hypertriglyceridemia? ›

Hypertriglyceridemia, characterized by the accumulation of triglyceride-rich lipoproteins in the blood, affects 10–20% of the population in western countries and increases the risk of atherosclerosis, coronary artery disease, and pancreatitis.

Which enzyme deficiency is most commonly associated with familial hypertriglyceridemia? ›

Lipoprotein lipase deficiency is a genetic disorder with an autosomal recessive pattern of inheritance. It usually presents in childhood and is characterized by severe hypertriglyceridemia and chylomicronemia. It is the most common form of chylomicronemia and was formerly known as hyperlipoproteinemia type 1a.

How rare is hypertriglyceridemia? ›

How common is hypertriglyceridemia? About 1 in 5 adults in the U.S. have elevated triglyceride levels (above 150 mg/dL). But your risk goes up as you get older. Hypertriglyceridemia affects 42% of adults age 60 and above, according to research.

How do you test for familial Chylomicronemia syndrome? ›

Genetic testing has emerged as the preferred method of FCS diagnosis because it allows for identification of the mutated FCS gene and distinguishes FCS from other much more common causes of chylomicronemia such as multifactorial chylomicronemia syndrome (MFCS) and familial partial lipodystrophy (FPLD) (Chait and Eckel.

Who treats FCS? ›

Gastroenterologist: a doctor who specializes in the abdominal organs/specialist in the pancreas. Pancreatologist: a doctor who specializes in managing pancreas disease, including acute, recurrent and chronic pancreatitis.

What is the genetic cause of chylomicronemia syndrome? ›

Causes. Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. It can also be caused by the absence of second factor called apo C-II, which activates LpL. LpL is normally found in fat and muscle.

Who is most likely to get hypercholesterolemia? ›

However, high cholesterol is most commonly diagnosed in people between ages 40 and 59. As you get older, your body's metabolism changes. Your liver does not remove “bad” LDL cholesterol as well as it did when you were young. These normal changes may increase your risk for developing high blood cholesterol as you age.

What ethnicity has the lowest cholesterol? ›

Researchers have found that, compared to whites, African-Americans and Hispanics are less likely to have their blood cholesterol levels checked.

Does hypercholesterolemia skip a generation? ›

If a parent has FH, each of their children has a one in two chance of inheriting it. It cannot skip generations – you can't pass on a gene if you don't have it yourself.

How do you treat chylomicronemia syndrome? ›

MCS needs to be treated as in any general hypertriglyceridaemia: low-calorie diet, avoid sugar and alcohol, reduce body weight, control of diabetes and, in some cases, common lipid lowering-drugs, such as fibrates or omega-3 fatty acids.

How do you treat FCS? ›

There are currently no FDA-approved treatments for FCS. Traditional treatments to reduce lipid levels such as statins, fibrates and niacin are not effective in people with FCS because the effectiveness of these medications depends, at least in part, on a functional lipoprotein lipase enzyme.

What are the secondary causes of primary Chylomicronemia? ›

Secondary/environmental factors (diabetes, alcohol intake, pregnancy, etc.) often exacerbate hypertriglyceridemia (HTG). The signs, symptoms, and complications of chylomicronemia include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, and acute pancreatitis with onset as early as in infancy.

What do inherited defects typically lead to in familial hypercholesterolaemia? ›

Some people are born with familial hypercholesterolaemia (FH), a genetic condition where your liver can't process cholesterol properly. This leads to a high level of cholesterol in your blood.

What are 5 diseases associated with lipid metabolism? ›

Diabetes mellitus, hypothyroidism (LDL hypercholesterolemia), renal illnesses (hypertriglyceridemia, mixed hyperlipoproteinemia, lipoprotein elevation), and cholestatic liver disorders are the most common clinically.

How do you know if you have high cholesterol on your face? ›

If you see yellowish-orange growths on your skin, you may have deposits of cholesterol under your skin. These painless deposits can appear in many areas, including the corners of your eyes, lines on your palms, or the backs of your lower legs. If you notice these growths on any area of your skin, see your doctor.

When is familial chylomicronemia syndrome FCS Awareness Day? ›

FCS Awareness Day – November 5, 2021.

What age does familial lipoprotein lipase deficiency occur? ›

Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1.

How is familial hypertriglyceridemia diagnosed? ›

Exams and Tests

If you have a family history of this condition, you should have blood tests to check very low density lipoprotein (VLDL) and triglyceride levels. Blood tests most often show a mild to moderate increase in triglycerides (about 200 to 500 mg/dL). A coronary risk profile may also be done.

What is the diet for familial chylomicronemia syndrome? ›

Recommended foods include vegetables, whole grains, legumes, lean protein foods, fruits in limited amounts, and fat-free milk products without added sugars. Foods to avoid include alcohol and products high in sugar.

Who treats familial chylomicronemia syndrome? ›

Management of familial hyperchylomicronemia syndrome should be interprofessional, spanning across the patient's primary care doctor, endocrinologist, lipidologist, dietician, gastroenterologist, and patient support group. Dietary modification is the mainstay management of familial chylomicronemia syndrome.

How common is Type II familial hypercholesterolaemia? ›


FH is a common genetic disorder with autosomal dominant inheritance. The heterozygous FH form is estimated to occur at a rate of 1:300-1:500. However, the homozygous form of FH is quite rare, occurring at a rate of 1:1,000,000.

How many people have hypertriglyceridemia? ›

There are more than 2.1 million adults in the United States with severe hypertriglyceridemia (SHTG),4 which is defined as having a triglyceride level over 500 mg/dL.

What is the life expectancy of someone with familial hypertriglyceridemia? ›

A: Without treatment, the life expectancy of those with familial hypercholesterolemia can be reduced by approximately 15-30 years. However, in people with homozygous familial hypercholesterolemia, the life expectancy may only be 20 years or less.

What is the prognosis for familial hypertriglyceridemia? ›

When managed, patients with familial hypertriglyceridemia have a good prognosis. Commonly, these patients do not have severe elevations of triglycerides and VLDL. However, secondary causes of an elevated lipid profile often coincide.

Is familial hypercholesterolemia an inherited disorder that is dominant? ›

Familial hypercholesterolemia is a defect on chromosome 19. It is inherited as an autosomal dominant trait, which means that you only need to get the abnormal gene from one parent to inherit familial hypercholesterolemia.

Who has familial hypercholesterolemia? ›

Familial hypercholesterolemia is a disorder that is passed down through families. It causes LDL (bad) cholesterol level to be very high. The condition begins at birth and can cause heart attacks at an early age.

Does coffee raise triglycerides? ›

Drinking coffee—especially unfiltered coffee—significantly contributes to increased levels of total cholesterol, low-density lipoprotein cholesterol (LDL-C), and triglycerides, researchers have reported.

What percentage of Americans have high triglycerides? ›

One in every three Americans has high triglyceride levels, which elevate risk of heart disease and early death. The fatty particles found in your blood are important for heart health, but don't get nearly as much attention as, say, cholesterol.

What is the biggest contributor to high triglycerides? ›

A poor diet is by far the most common cause of high triglyceride levels, says Freeman. “I consider high triglycerides as a marker that someone may not be eating as well as they should,” he says. Excess calories and sugar are turned into triglycerides before being stored as fat, notes Cleveland Clinic.


1. Genetic Lipid Disorders
(MonteHeart Lectures)
2. Genetic Testing Results on Clinical Management for Lipid Patients | Webinar | Ambry Genetics
(Ambry Genetics)
3. Dr. Anas Abu Hazeem : Familial Hyperlipidemia in Children Diagnosis and Management
(MCO Healthcare Conferences)
4. Familial Hypertriglyceridemia Part 1
(Indian Academy Of Neonatology)
5. Update on Triglycerides
(MonteHeart Lectures)
6. Subcellular Therapeutic Targeting of Common Lipid Disorders - Dr. Sotirios Tsimikas
(CCC Live Cases)


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