Hyperlipoproteinemia

Hyperlipidemia has been subclassified based on the lipid and lipoprotein profiles. Type 2a, which this patient has, can be seen in a hereditary form, known as familial hypercholesterolemia, and also in secondary, acquired forms related to nephritic syndrome and hyperthyroidism. The root problem appears to be a deficiency of LDL receptors, which leads to a specific elevation of cholesterol in the form of increased LDL. Heterozygotes for  the  hereditary form generally develop cardiovascular disease  from 30  to  50  years of  age. Homozygotes may have cardiovascular disease in childhood. Type 1 is characterized by isolated elevation of chylomicrons. Type 2b is characterized by elevations of both cholesterol and triglycerides in the form of LDL and VLDL. Type 3 is characterized by elevations of triglycerides and cholesterol in the form of chylomicron remnants and IDL. Type 5 is characterized by elevations of triglycerides and cholesterol in the form of VLDL and chylomicrons.

Hyperlipidemia has been subclassified based on the lipid and lipoprotein profiles.

Type 2a, which this patient has, can be seen in a hereditary form, known as familial hypercholesterolemia, and also in secondary, acquired forms related to nephritic syndrome and hyperthyroidism.

The root problem appears to be a deficiency of LDL receptors, which leads to a specific elevation of cholesterol in the form of increased LDL. Heterozygotes for the hereditary form generally develop cardiovascular disease from 30 to 50 years of age.

Homozygotes may have cardiovascular disease in childhood.

Answer is A (Fusion of foot processes of the glomerular epithelial cells):

The presence of generalized edema is a 7 year old boy with proteinuria suggests a diagnosis of Nephrotic syndrome.

This child is likely to have.

Minimal change disease as this is the most common cause of Nephrotic syndrome in children and is associated with normal findings on Light microscopy

Generalized edema May develop Pleural effusion, pulmonary edema, ascitis Patients with minimal change disease characteristically show fusion of foot processes of the glomerular epethelial cells on electron microscopy.

Minimal change Disease: Review

• Most common cause of Nephrotic syndrome in children (80% in children; 20% in adults)
• Peak Age of onset is between 6-8 years of Age (usually < 10 years)
• Type of onset : Insiduous

Clinical features

Peripheral Edema: Presenting Feature

Nephrotic syndrome is the typical presentation

Peripheral edema is the hallmark of Nephrotic syndrome occurring when serum albumin levels become less than 3g/dl

Initially dependent Edema  > Generalized edema May develop Pleural effusion, pulmonary edema, ascitis

• Hematuria : 20-30%
• Hypertension : V. Rare
• Renal failure : Does not usually progress to renal failure

Laboratory (Features of Nephrotic syndrome)

• Proteinuria
• Hypoalbuminemia
• Hyperlipidemia/Hyper cholesterolemia (Increased hepatic prduction of lipids)
• Hypercoagulability

Renal pathology (Biopsy)

Investigation

• Light microscopy ^Q
• Electron microscopy ^Q
• Immunofluorescence ^Q

Observation

• No abnormality hence the term minimal change
• Fusion of foot processes
• Absence of immunoglobulin or complement

Prognosis

• Prognosis is Good
• Response to steroids is Excellent
• Does not progress to Renal Failure

Treatments

• Corticosteroids form the mainstay for treatment of MCD

Answer is B (Hypothroidism):

The two most common Endocrine causes of Secondary Dyslipidemia are Type-2 Diabetes Mellitus and Hypothyroidism.

Type-2 Diabetes Mellitus is the single most common endocrine cause of Secondary Dyslipidemia followed by Hypothyroidism.

Familial hypercholesterolemia (type Ha) is due to deficiency of functional LDL receptors as a result of different types of mutations.

Ans. is ‘a’ i.e., Activator of lipoprotein lipase