The Milky Serum

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Genetic mutations that cause metabolic diseases resulting from enzyme defects in the intermediate metabolic pathway lead to a wide range of disorders in clinical practice. Consistent vomiting, metabolic acidosis, growth delay, failure to survive, and reduced or elevated urine and blood levels of specific metabolites are all signs and symptoms of metabolic errors in infants (Rahalkar et al., 2009). Hypoglycemia is caused by metabolic errors in the unborn child, such as fatty acid oxidation disorders, carbohydrate metabolism disorders, glycogen storage diseases, inherited fructose intolerance, and rare primary lactic acidosis. The Milky Serum in Children will be dissected in this article. There a different pediatric illness that is associated with milky serum including Niemann-Pick disease, glycogen storage disease type 1, familial hypertriglyceridemia, Tay-Sachs disease biliary atresia and the red cell pyruvate kinase deficiency (Rostom, 2010). Most of the time, kids are reported to have the temporary lipoprotein lipase impairment and low HDL. Therefore the type 1 glycogen storage disease is the most common form of infection found. The glucose-6-phosphate deficiency is the one that enables the free production of glucose from gluconeogenesis and glycogen. It even brings severe hypoglycemia as well as increased oxygen storage in kidneys and liver, making them enlarge. The other metabolic derangement observed in this disorder is lactic acidosis, hyperuricemia, and hypertriglyceridemia.

Literature review

In the seventeenth century, milk serum was often noted to be associated with diabetes mellitus, eruptive xanthomata, and abdominal pain. Later, papules with yellow center tend to appear on the extensor surfaces due to server hypertriglyceridemia. As a result, the plasma triglyceride level increases above 20 mmol/l, because of the likelihood of acute pancreatitis due to the surgical ward admission associated with abdominal pain due to the significance of metabolic abnormality that underlies around (Rahalkar et al., 2009).

In a case study of six months, an old baby who visited the hospital was noted to have splenomegaly which with routine physical examinations cannot be found. Born under the elective repeat Cesarean section, the baby had healthy growth and development. Later, a complete comprehensive metabolic panel and blood count screening was conducted because the laboratory test could not be done due to grossly lipemic samples. At this point, the child was referred to a pediatric gastroenterology who had subsequent splenomegaly lipemic samples.


Kids who are diagnosed with familial hypertriglyceridemia have asymptomatic and the presence of colicky pain to thrive. When the child was examined, there was the presence of xanthomas and splenomegaly. The patient was also found to have Lipemic serum because of the accumulation of lipoprotein. In a report that was done in 1983, it showed that a variety of infants with familial hypertriglyceridemia also had a manifestation of lipemia retinalis, hepatomegaly, and xanthomas. Most of the time, they were noted to have a limb or scrotum swelling, abdominal pain and xanthoma eruption due to increased plasma triglyceride concentrations (Hoffman et al., 2000). Besides the fact that there were increased triglycerides, the laboratory tests indicated signs of anemia.

When there is an increase in the triglyceride concentrations in adults, they are known to have endothelial dysfunction which usually accelerates to form atherosclerotic plaques commonly known to cause coronary artery disease. As for the baby, his family history showed signs of increased triglyceride concentrations due to precipitated pancreatitis. The increase of triglyceride concentrations in children is usually due to secondary conditions like type 2 diabetes mellitus and obesity (Hoffman et al., 2000). However, for such young patients like children, it is essential to consider the familial hyperlipidemia symptoms. Before the National Cholesterol education was used in conjunction with the lipids, the use of the FC (Fredrickson classification was primarily used to characterize the disorders of fat. The FC also correlated the electrophoresis to have laboratory phenotypes and clinical disease syndrome. Each phenotype, in this case, had a relationship with the diseases that had the same lipoprotein and lipid pattern. Although the FC was developed 40 years ago, it is still used today especially when lipid pathognomonic symptoms (Hoffman et al., 2000).

The FC character also uses multiple criteria to diagnose including the appearance of centrifuged serum, the lipid concentrations and the lipoprotein electrophoresis. The Serum, in this case, is assessed through refrigerator tests that consist of an overnight sample that has 4 degrees Celsius as well as a sample of the creamy layer (chylomicron layer) that is usually on top of the sample. The serum is then identified by the infranate of type 1 or type 1V of the turbid. Size then separates the electrophoresis by representing each band of different lipoprotein. The bands, in this case, are located between the origin, pre-origin and the chylomicrons that serve the LDL.


A physical examination performed by the pediatric gastroenterology to the six-month-old baby showed that the weight had increased to the 99th percentile, 81st percentile and 70th percentile of the head circumference. The growth chart showed that the baby had a 60th percentile weight that increased to 90th percentile when he reached six months. Ever since the baby was born, the length and circumference of the head showed stable growth rates at 57th, 70th, and 80th percentiles respectively (Bossios & Synodinos. 2014). On his left earlobe, there were multiple lipomas, lateral canthus on the right eye, back and abdomen while having a 2cm splenomegaly on the lower costal margin. The hepatomegaly, on the other hand, was not present while different abdominal masses were appreciated. There was a remarkable family history from the maternal grandmother who also had hypercholesterolemia and hypertriglyceridemia discovered when she had pancreatitis. Before her treatment was initiated, she was found to have thousands of triglycerides.

There was an abdominal ultrasound noticed for the 3.4 by 8.3 cm splenomegaly. The complete blood count showed that anemia was seen in white blood cells between the reference intervals. Moreover, the fibrinogen, coagulation panel, thyroid studies and the uric acid were also present during the reference intervals (Bossios & Synodinos 2014). There was an increased demonstration from the lipid panel because of triglycerides and cholesterol with the LDL referenced in low intervals. The LDL and VLDL were not calculated because there was an increase in triglycerides. The parents of the boy also had to undergo the phenotyping screening where the mother had a standard lipid profile. The father, on the other hand, was the one that had the hypertriglyceridemia.


The total blood count showed the presence of leucopenia totaling to 4,800/cumm having neutropenia and an absolute neutrophil count of 816/cumm. The arterial blood gas on the other showed severe metabolic acidosis of PCO2-17.3 mmHg, PH-6.91, BE-26.6mmol/L and HCO3 – 5.7 mEq/L. The biochemical investigations revealed elevated liver enzymes that had deranged renal function tests (Creatinine-1.5mg/dl & urea-119 mg/dl) (Pouwels &Blom, 2012). The serum, in this case, was found to be grossly lipemic. The estimation of the lipid profile showed increased levels of triglyceride, cholesterol levels, and low-density lipoprotein. With the above results, there was the possibility of glycogen disorder type 1 present in the child’s blood. The Lipoprotein phenotyping showed signs of increased triglycerides and presence of chylomicrons with α and β band on the reverence intervals, but the β had increased. The result also showed that there was the presence of the type IV isolated hypertriglyceridemia. The patient was later prescribed a diet of fish oil supplementation (Pouwels & Blom, 2012).


A child who has splenomegaly is a concern in different ways including portal hypertension, hemolytic anemia, hemophagocytic lymphohistiocytosis, malignancy disorders and glycogen (Rostom, 2010). The laboratory test ruled out the white blood cell count, uric acid and iron studies within the reference intervals. Despite the fact that there were anemia and bilirubin concentrations in the reference intervals, there was no presence of hemolysis. During examinations, Xanthomas were found to be present, and the lab evaluation showed the grossly lipemic serum which had narrowed down to a lipid disorder (Pouwels & Blom, 2012). The intermediary metabolism disorders occur because of three primary mechanisms: a membrane transport defect that resulted from a failed excess secretion of a compound, a faulty enzyme that has a defective substrate conversion and defaulted receptors that are concerned with mediating metabolism. The defects in intermediary metabolism developed due to disruptions in the formation of metabolic process and also an elevated urinary produced through the exception of the abnormal metabolite (Rostom, 2010).

There are various causes of milky serum to kids where the glycogen storage suspended disorder should always be reminded because infants usually have severe hypertriglyceridemia, hypoglycemia, and hepatomegaly (Rostom, 2010). In adults, increased triglyceride concentrations are known to cause endothelial dysfunction and can accelerate the formation of atherosclerotic plaques, leading to coronary artery disease. There are two different types of hypertriglyceridemia, endogenous and exogenous. The carbohydrate-induced Endogenous hypertriglyceridemia, which increases the triglyceride concentration through increased VLDL production and low HDL.

As for fat-induced exogenous hypertriglyceridemia, it is caused by the inability to break down chylomicrons. It produces a more pronounced chylomicron band on electrophoresis, and a significant layer of chylomicrons in test tube centrifuged samples. The diseases have a more prominent pre-band on electrophoresis. In the diagnosis of type IV hyperlipidemia through FC, we observed an endogenous hypertriglyceridemia marked by highly increased triglycerides within reference intervals to slightly increased cholesterol.

The FC describes type IV as having a negative refrigerator test and an increased pre-band on electrophoresis. Illustrated in any patient’s plasma is a cloudy appearance, which differs from clear plasma associated with types I and II. This observation of a sample in the laboratory is due to very low-density lipoproteins (VLDL), whereas LDL is usually within reference intervals; thus, electrophoresis produces a more prominent pre-band. A phenotype classification performed at LabCorp reported a turbid appearance, with the presence of chylomicrons, and an increased pre-band. Per the FC, chylomicrons do not define type IV hyperlipidemia; therefore, in this patient, their presence may be the result of a postprandial sample (Pouwels &Blom, 2012).

In a medical patient's genetic history, markedly increased triglyceride concentrations can precipitate pancreatitis. In conjunction with familial hyperlipidemia syndromes, Familial hypertriglyceridemia is associated with lipoprotein patterns present. In most instances of type IV hyperlipidemia, they are often autosomal dominant, affecting 1:300 Americans (Pouwels &Blom, 2012). The abnormality is identified mainly in adults with fasting triglycerides ≤500 mg/dL and is less reported in infants (Stroes et al., 2008). In a case study, a patient's father had the same lipid profile, supporting an autosomal dominant inheritance. Genetic testing was not performed on this patient since it would not change management. Although complete pathophysiology mechanisms for this lipid dysregulation was not elucidated, it was demonstrated that VLDL triglyceride production is increased in the setting of normal apolipoprotein B synthesis (Stroes et al., 2008). This lead to the formation of triglyceride-laden VLDL molecules that explain the “milky” appearance in the tube.

A 1983 report of kids with familial hypertriglyceridemia, who are often asymptomatic, noted that they have abdominal pain, limb or scrotum swelling, and xanthoma eruption during times of increased plasma triglyceride concentrations (Sanatamarina, 1998). And present colicky pain or failure to thrive. Examination of a child patient reveals splenomegaly and xanthomas. Lipemic serum may be another presenting indicator and has been reported in 2 other cases of infants with hypertriglyceridemia. Some patients display hepatomegaly and lipemia retinalis, while other's present hepatosplenomegaly, and xanthomas (Bossios & Synodinos 2014). Apart from increased triglycerides, laboratory testing can indicate anemia, thought to be due to alterations of erythrocyte membranes (Hoffman et al., 2000). Significantly increased triglyceride concentrations also prevent the measurement of VLDL and LDL in lipid panels.


A lifestyle modification of diet and exercise, irrespective of etiology is the first step in the treatment of patients with hypertriglyceridemia. An infant should be weaned with a formula diet to a low-fat diet supplemented with fish oil to reduce triglyceride concentrations. At one year of age, the standard recommendation is to transition from formula to whole milk; however, most drink nonfat dairy to promote a low-fat diet (Pouwels &Blom, 2012). Their lipid profile should be monitored annually. A recent randomized, double-blind study showed a reduction of triglyceride concentrations in adolescents on fish oil, but the results were not statistically significant compared with the placebo group. In older children, fibrates are also valid options to reduce triglyceride concentrations. 

The triglyceride –lowering drugs have been known to be the primary medicine for the condition because they are known as fibrates (Chew & Krainer, 2012). However, these drugs may have controversial effects. For instance, they are found not to benefit from preventing the heart disease, but the niacin is very good in lowering the serum level. Not only does the drug reduce coalition in blood but it also decreases the protein level in the blood. The side effects of this kind of treatment are a flushing of the skin, as well as increased risk infections. Therefore this is the reason why patients take niacin to lower the triglyceride levels. In a large clinical trial, the Tricor medicine (fenofibrate), also known as the fibrate drug is also known to reduce the triglyceride level but does not lower the heart risk. However, the drug was found to be very useful because it assisted a group of people who had low HDL and high triglyceride levels.

In a report done by the journal of medicine in England, an international team suggested that there are new therapies for high triglycerides. The medication involves the patient to be injected weekly with the ASOs (antisense oligonucleotides), which rectifies some DNA that is known to short-circuit the lever to produce triglycerides (Chew & Krainer, 2012). It was proved that the medication reduces the triglyceride levels by 70 percent. This was only noted in phase two of treatment because the purpose was to understand whether the drug could lower the triglyceride levels in a very short span. Moreover, in long-term treatment, the medication was known to reduce other diseases like the heart condition and many other illnesses that may have side effects. But then the drug did not have an assurance of being approved because it was not predicted whether it would be available for patients who had high levels of triglycerides (Leaf, 2014).

Decreasing triglycerides without medication

Another way of reducing triglycerides is by changing the style of the patient. There are a lot of things that trigger this condition as well as the ‘milky serum.’ It is therefore advisable and essential for things to be changed pertaining what goes into the body of the human being. One way that can be taken into consideration is by having good eating habits. For instance, the six-month-old baby should not be fed on saturated fats (full-fat dairy products & red meat) as well as commercially prepared foods and restaurant fired foods (trans-fats). This method is best known to lower triglycerides (Chew &Krainer, 2012). Another way is to go for good grabs like the easily digested carbohydrates such as white rice, white bread, and cornflakes, especially for babies.

Most of the times, whole grains cut down on proteins in the blood thus controlling triglycerides. For adults, it is crucial to lowering the level of alcohol because it dramatically boosts the level of triglycerides. The only evidence for this is that after one has stopped drinking, they should go back for testing to see whether it has reduced. Children should be protected by use of fish products like tuna, Omega-3 fats, fatty fish and sardines (Bossios & Synodinos 2014). The foods are known to lower the level of triglycerides at very high rates. Children, in this case, should be allowed to play a lot to mitigate the pile-up of proteins in the bodies. When breastfeeding mothers exercise regularly, they reduce the number of proteins in the milk which are known to be the highest contributors of the ‘milky serum.’


The ‘milky serum’ as elaborated in the essay is a condition where there is a high concentration of fats in the blood of the six-month-old infant. Still, the ‘milk serum’ was often noted to be associated with diabetes mellitus, eruptive xanthomata, and abdominal pain. The primary factor of this condition is by having high levels of triglycerides in the blood system. The increase of triglyceride concentrations, in this case, was in children due to secondary conditions like type 2 diabetes mellitus and obesity. The case study indicates the history of possible diabetes with the maternal grandmother having pancreatitis and hypercholesteremia. The six-month-old baby may have been a victim of elevated triglycerides, reduction in total cholesterol levels, low HDL cholesterol and an increase in chylomicrons. As for fat-induced exogenous hypertriglyceridemia, it is caused by failure to break down chylomicrons. It produces a pronounced chylomicron band on electrophoresis, and a large layer of chylomicrons in test tube centrifuged samples. So the only way to stop the ‘milky serum’ was by reducing the level of triglycerides in the human body.


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Chew SL, Krainer AR. (2012). Treatment of triglycerides. Nat Rev Genet.; 3:285-98.

Santamarina-Fojo S. (1998). The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am. 199; 27:551-67.

Pouwels ED, Blom DJ. (2012). Severe hypertriglyceridemia as a result of familial chylomicronemia: S Afr Med J; 98:105-8.

J, Bossios A & Traeger- Synodinos et al. (2014). Lipemic samples in an infant: Eur J Pediatr; 163:462-6.

Hoffmann MM, Jacob S, Luft D, Schmulling RM, Rett K, Marz W, et al. (2000).Type I lipemia retinalis, due to a novel loss of function mutation of lipoprotein lipase, Cys(239) >Trp, associated with recurrent severe pancreatitis. J Clin Endocrinol Metab.; 85:4795-8.

Stroes ES, Nierman MC, Meulenberg JJ, Franssen R, Twisk J, Henny CP, et al. (2008). Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients. Arterioscler Thromb Vasc Biol; 28:2303-4.

Leaf DA. (2014). ‘Antisense oligonucleotides’ medication: a practical approach to treatment. Am J Med; 121:10-2

Rostom AY. (2010). ‘milky Serum’ Conditions. Arch Dis Child. 83(2):138–139pmid:10906021

September 21, 2021

Family Science


Illness Biology

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Children Disease Enzyme

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