Dr.Azad A Haleem AL.MezoriDCH, FIBMS

Lecturer University Of DuhokColleg of Medicine

Pediatrics Department2016

azad82d@gmail.com

Hypertriglyceridemia associated with eruptive xanthomas and

lipemia retinalis in newly diagnosed D.M

Case Summary

Five years old girl………• previously healthy presented with a 4-day

history of progressive epigastric abdominal pain, polydepsia, secondary nocturnal enuresis and history of weight loss.

• No fever ?• Past History : IDA ….. • F.H & D.H: nothing significant

Her initial assessment revealed tachypnea with Kussmaul's respiration, tachycardia and moderate dehydration.

CNS; Lethrgic, revealed generalized body weakness

chest; harsh vesicular breathing with good air entry.

Heart: Audible S1 & S2with systolic murmur in the apex.

Abdomen: liver and spleen just palpable.

Case SummaryOn Examination

o The girl was hyperglycemic (plasma glucose level more than 600 mg\dl) and acidotic (pH 7.14, bicarbonate level 3.9 mmol/L), with urinalysis revealing ketonuria and glucosuria.

o CBC & ESR, RFTs, LFTs: within normal limits.

Case Summary Investigations

Diabetic ketoacidosis (DKA)

?Diagnosis…..

Treatment

o After admission, o appropriate fluid resuscitation and o insulin treatment were started. o The patient's diabetic ketoacidosis resolved over 24 hours, o at which point a diabetic diet was introduced along with o subcutaneous insulin therapy (lantus and Novorapid basal

bolus regime).

• On further enquiry… Skin lesions were observed; non-tender yellow papules with creamy-colored centers on face & extensor surfaces of the arms, hands and feet.

Case Summary

• Ophthalmoscopic examination showed creamy white retinal vessels with a faded pinkish white retinal back ground both in the periphery and posterior pole of the retina.

Case Summary

• Laboratory findings showed a grossly lipemic serum with elevated serum levels of triglycerides 2869 mg/dl, cholesterol 498mg/dl, Amylase 45 and HbA1c was 14.8%.

Case Summary

Hypertriglyceridemia associated with eruptive xanthomas and lipemia

retinalis in newly diagnosed diabetes mellitus.

?Diagnosis…..

Treatment • Given the extent of her hyperlipidaemia and

hypergltcemia, the patient put on follow up; • the patient continued on a diabetic diet along with

subcutaneous insulin therapy, and ..• after one month all her investigations were repeated;

serum glucose and lipid profile were normal, and ….• Now the patient has no any skin lesions (eruptive

xanthomas) clinically nor lipemia retinalis on Ophthalmoscopic examination.

Before treatment After medical treatment

Conclusion:This case illustrates a young person with Hypertriglyceridemia associated with eruptive xanthomas and lipemia retinalis in newly diagnosed diabetes mellitus.

Hypertriglyceridemia associated with eruptive xanthomas and lipemia

retinalis in newly diagnosed diabetes mellitus.

Some theory …..

Brief review of lipoprotein metabolism• Lipoproteins, which transport non-water

soluble cholesterol and triglycerides in plasma.• Lipoproteins are generally classified according

to their density as:• Chylomicron, • Very Low Density Lipoprotein (VLDL),• Intermediate Density Lipoprotein(IDL), • Low Density Lipoprotein (LDL) and • High Density Lipoprotein (HDL).

o Chylomicrons: o The formation of chylomicrons takes place in the enterocytes. • Chylomicrons are secreted into the lymphatic circulation before

entering the bloodstream. o In plasma, chylomicrons by the lipoprotein lipase form smaller,

triglyceride-poorer particles known as chylomicron-remnants.

• Chylomicron-remnants are cleared by the liver through:

• LDL B/E receptor or • LRP receptor (LDL-receptor related protein).

• VLDL particles are secreted by the liver.• In plasma, triglycerides of VLDLs are

hydrolyzed by the lipoprotein lipase leads to the formation of IDL particles.

• IDL particles are either:• cleared by the liver through LDL B/E receptor

or • further metabolized by hepatic lipase to form

LDLs.

• LDL is the final product.• LDL is the main cholesterol-bearing lipoprotein

in plasma.• Clearance of LDL is mediated by the LDL B/E

receptor.

30%

70%

• HDLs particles are secreted by the hepatocytes .• Within HDL particles, free cholesterol is esterified by LCAT (Lecithin

Cholesterol AcylTransferase) leading to the formation of HDL3 particles.

• The fusion of 2 HDL3 particles leads to the formation of one larger size HDL2 particle.

• HDL2 lipoproteins are degraded by the hepatic lipase and the endothelial lipase, leading to the formation of HDL remnant particles that are cleared by the liver.

30%

70%

Insulin and lipoprotein metabolism• Insulin plays a central role in the regulation of

lipid metabolism.

1: insulin inhibits hormone-sensitive lipase.

2 : insulin activates LipoProtein Lipase (LPL)

3: insulin inhibits hepatic VLDL production.

4: insulin increases LDL B/E receptor expression.

5:insulin activates LCAT (Lecithin Cholesterol AcylTransferase)

6: insulin activates Hepatic Lipase (HL).

Conclusion

• This case illustrates a young person with Hypertriglyceridemia associated with eruptive xanthomas and lipemia retinalis in newly diagnosed diabetes mellitus.

• Previous proposals to explain this phenomenon include: genetic abnormalities of lipoprotein lipase 1 , or a transient decrease in lipoprotein lipase activity secondary to insulin deficiency 2,3 .

1 - Karagianni C, StabouliS, Roumeliotou K, et al. Severe hypertriglyceridaemiain diabetic ketoacidosis: clinical and genetic study. Diabet Med 2004;21:380–2. 2 - Nyamugunduru G, Roper H. A difficult case: Childhood onset insulin dependent diabetes presenting with severe hyperlipidaemia. BMJ. Jan 4, 1997; 314(7073): 62–65. 3 - Abbate S, Brunzell J. Pathophysiology of hyperlipidemia in diabetes mellitus. Cardiovasc Pharmacol. 1990;16 Suppl 9:S1-7.

THANKS FOR YOUR ATTENTION