Familial Hypercholesterolemia presenting with different types of Xanthomas

Dr. Rajashree Khot at Department of Medicine, Indira Gandhi Government Medical College, Nagpur, Maharashtra and colleagues have reported a case of Familial Hypercholesterolemia presenting with different types of Xanthomas that has appeared in Journal of Associaton of Physicians of India.

Familial hypercholesterolemia (FH) is an autosomal dominant disorder that causes severe elevations in total cholesterol and low-density lipoprotein cholesterol (LDLc). Children with Homozygous Familial Hypercholesterolemia have symptoms of heart disease and do not survive adulthood beyond age 30 years unless treated with unusual methods, such as liver transplantation, LDL apheresis, or ileal bypass surgery to dramatically lower their LDLc levels. Children with heterozygous FH do not have symptoms related to coronary heart disease (CHD), and most do not develop tendon xanthomas or corneal arcus.

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  Homozygous FH: Severely elevated cholesterol levels (total cholesterol and LDLc levels >600 mg/dL); triglyceride levels within the reference range
  
  


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  Heterozygous FH: Elevated LDLc levels commonly greater than 250 mg/dL; in patients younger than 20 years, an LDLc level higher than 200 mg/dL is highly suggestive of heterozygous FH or, possibly, familial ligand defective apoB-100; in adults, LDLc levels higher than 290-300 mg/dL suggest heterozygous FH
  
  

According to history, a 15-year-old girl from a remote village came with a history of multiple skin lesions of variable morphology ranging from macules to nodules over various parts of the body since childhood. The lesions were painless and were growing in number over a period of time. The patient visited doctors for cosmetic reasons as she was concerned about the cosmetic effect of the lesions. The attending doctors on examination found that the patient had all different types of Xanthomas which have been described with familial hypercholesterolemia. She had Xanthelasma Palpebrum over the eyes (Figure 1), Tuberous Xanthoma over the elbow (Figure 2), Tendinous Xanthomas over the knee and Achilles tendon (Figure 3), Diffuse planar Xanthomas over thighs (Figure 4), Eruptive verrucous Xanthomas in the axillae, forearms, legs (Figure 5) and Intertriginous Xanthomas on hand (Figure 6) on hand (Figure 6)

Her mother had a history of having only palpebral Xanthelasmas. Her Father and elder sister were normal. The investigations revealed that her lipid profile had elevated Serum Cholesterol of 291 mg/dl, elevated Serum LDL of 241 mg/dl, low HDL of 38 mg/dl and normal Triglyceride levels of 64 mg/dl and normal VLDL levels of 30 mg/dl. Her mother also had marginally elevated levels of Serum cholesterol and LDL. The 2-D Echo was done which revealed a restricted movement of the anterior mitral leaflet and mild mitral regurgitation. Patient’s parents did not give consent for coronary angiography. There were no plaques in the carotid artery and carotid intima-media thickness was also normal. According to Simone Broom criteria patient was diagnosed to have Familial hypercholesterolemia. She was started on Tab Atorvastatin with ezetimibe but on follow up after 6 weeks her lipid profile was unaltered.