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Year : 2000  |  Volume : 66  |  Issue : 6  |  Page : 331-332

Homozygous Familial Hypercholesterolemia (le)

Correspondence Address:
P R Somwanshi

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Source of Support: None, Conflict of Interest: None

PMID: 20877123

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How to cite this article:
Somwanshi P R, Agarwal N S. Homozygous Familial Hypercholesterolemia (le). Indian J Dermatol Venereol Leprol 2000;66:331-2

How to cite this URL:
Somwanshi P R, Agarwal N S. Homozygous Familial Hypercholesterolemia (le). Indian J Dermatol Venereol Leprol [serial online] 2000 [cited 2020 Jun 5];66:331-2. Available from: http://www.ijdvl.com/text.asp?2000/66/6/331/4968

To the Editor,

Multiple xanthomas are usually an expression of underlying hyperlipidemia which may be primary or secondary to a disease such as diabetes, hypothyroidism, liver or renal disease. Uncommonly, multiple xanthomas may be associated with normal plasma lipids e.g. xanthoma disseminatum, histiocytosis-x, multiple myeloma and the lipidoses.[1]

The type and distribution of xanthomas can give a clue regarding the type of underlying hyperlipidemia.

A patient is presented who had an uncommon, a very characteristic distribution of plane xanthomas in web spaces of fingers along with tendinous and some tuberous xanthomas at other places. The history investigations and examination led to the diagnosis of the rare homozygous type of the common familial hypercholesterolemia.

A 30-year-old unmarried male patient was admitted with complaints of multiple, small, 2 mm to 1 cm soft, asymptomatic, yellow coloured papular lesions since the age of 3 years.

The lesions were distributed mainly over the cubital and popliteal fossae, axillae, shoulders, knee, elbow, gluteal regions, hands and feet. On the hands, characteristically interdigital spaces were involved including the space between the thumb and index finger and the knuckles. At some places the lesions were grouped giving a small plaque appearance.

The patient also complained of recurrent chest pain since the last 5 years and breathlessness since the last 2 years. The chest pain was throbbing, intermittent type and often radiated to the shoulder and back. The breathlessness initially was after moderate to heavy work like cycling but now it was present even after climbing steps. For these complaints, in the last 2 years, the patient had been admitted thrice in various hospitals and cardiac centres. There, his aortography and coronary angiography revealed diffuse atherosclerotic disease of aorta and heavy calcification of coronaries and hence they could not be catheterized. The lipid profile during this period revealed his total cholesterol in the range of 550-650 mg %, LDL in the range of 480-500 mg%, serum trglyceride always within normal limits, HDL-16 mg% with LDL/HDL ratio in the range of 12-14.

There was no history of tuberculosis, diabetes, hypertension or hypothyroidism in the past or present. Patient had seven members in the family including both the parents. Parents had a first degree consanguinous marriage and had no complaints. One younger brother of 24 years age, and a sister of 20 years age, had similar skin lesions. The younger brother had developed serious ischaemic heart disease and had undergone coronary bye-pass surgery at the age of 21 years. The younger sister also had chest pain off and on but had not undergone any investigations.

The patient was a vegetarian, non-alcoholic, non-smoker and followed the diet restrictions as advised by the physicians. On admission, investigations revealed his total cholesterol levels 700 mg./ml, triglycerides-100mg/ml, HDL-20mg/ ml, LDL 640 mg/ml. Blood sugar post-meal-120 mg%. Thyroid functions, liver function and renal function tests were within normal range. The patient was on oral nitrates, aspirin and lovastatin for the past 3 years without any beneficial effect on lipid profile. We continued the same treatment.

Familial hypercholesterolemia (FH) is a condominant genetic disorder that occurs in the heterozygous form in 1:500 of the European and American population.[2] FH is due to mutations in the gene for LDL receptors. Total and LDL cholesterol are elevated at birth and remains so, throughout life. Triglycerides are typically normal and HDL cholesterol either normal or reduced.[3]

Heterozygous individuals have total cholesterol levels in the range of 275-500 mg% and develop xanthomas and vascular disease in childhood.[4] In homozygous patients, the most characteristic xanthomas are small, tendinous and plane xanthomas involving interdigital areas of fingers, especially the space between the thumb and the first index finger.[4] They also usually have an aggressive and premature coronary heart disease.[1],[4] Our patient had all the features of homozygous FH. He had tendinous and plane xanthomas since early childhood, distributed very characteristically in interwebal spaces, including the space between the thumb and index fingers. He had symptomatic and severe coronary heart disease in the third decade of life with severe calcification and thick plaques in the vessels suggesting a very early start of the disease process. He also had LDL cholesterol consistently above 450 mg%.

Drug treatment as described, is hardly helpful in homozygous patients.[2] In his patient also, 3 years continuous treatment with lovastatin had not altered the cholesterol levels much.

Other treatments available with variable results are plasma exchange, porta-caval shunts, and liver transplant.[2]

This case highlights the importance of the role of dermatologists, as children may present first to them with xanthomas.[4] At this stage evaluation of other family members and cardiac status examinations will prevent further irreversible or severe cardiac morbidity and will be helpful in early intervention for better outcome of the disease.

  References Top

1.Mishkel MA. Xanthomatosis. In: Current Dermatologic Therapy, Stuart Maddin, editor, WB Saunders Co; 1982; 495.   Back to cited text no. 1    
2.Seymour CA. Xanthoma and abnormalities of lipid metabolism and storage. In: Textbook of Dermatology, Champion RH, Burton JB, Ebling FJB, editors, 1992; 2314-2325.  Back to cited text no. 2    
3.Brewer HB. Jr, Fredrickson DS. Dyslipoproteinaemias and xanthomatoses. In: Dermatology in General Medicine, Edited by Fitz Patrick TB, Eisen AZ, Klaus Wolff, et al, 3rd Edition, McGraw Hill Book Co., 1987; 17730-17738.   Back to cited text no. 3    
4.Brown MS, Goldstein JL. Hyperlipoproteinemias and other disorders of lipid metabolism. In: Harrison's Principles of Internal Medicine, Edited by Braunwald E, Isselbacher KJ, Petersd' orf RG, et al. 11th edition, McGraw-Hill Book Co., 1987; 1650-1660.  Back to cited text no. 4    


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