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72 3: Endocrinology<br />

polygenic in its inheritance. The disorder is<br />

common, and heterozygous familial hypercholesterolemia<br />

is felt to affect 1 in 500 individuals.<br />

It can be secondary to other diseases such<br />

as hypothyroidism, nephrotic syndrome, or<br />

even porphyria. Xanthelasmas after the age of<br />

50 are often not related to any dyslipidemia at<br />

all. (Felig, p. 1016)<br />

37. (A) In the rare familial form, raised yellow<br />

plaques appear on palms and fingers, and<br />

reddish-yellow xanthomas occur on the elbows.<br />

This disorder is felt to be secondary to accumulation<br />

of abnormal chylomicron and very<br />

low-density lipoprotein (VLDL) remnants. It is<br />

probably due to inherited homozygous defects<br />

in Apo E-II structure. (Felig, pp. 1024–1025)<br />

38. (E) Triglycerides are over 150 and are raised<br />

by alcohol intake, estrogens, stress, insulin, and<br />

physical activity. Cholesterol levels are average<br />

or mildly elevated. HDL is usually low.<br />

Dietary therapy and the maintenance of ideal<br />

weight is the cornerstone of therapy. (Felig, pp.<br />

1029–1030)<br />

39. (B) Hypertriglyceridemia is usually secondary<br />

to DM or drugs, rather than a genetic disorder.<br />

It can be a normal response to caloric<br />

excess or alcohol ingestion and is common in<br />

the third trimester of pregnancy. (Felig, p. 1027)<br />

40. (C) In DM, there is an obligatory osmotic diuresis,<br />

but in DI there is lack of water resorption in<br />

the tubules. Both result in polyuria, but in DM,<br />

there will be substantial glucosuria as well. The<br />

large amount of urine output (usually >50 mL/<br />

kg/day) is characteristic of polyuric states, such<br />

as DI, not a bladder problem. Psychogenic<br />

polydipsia is commonly seen in patients with<br />

psychiatric problems on medications. (Kasper,<br />

pp. 2098–2099)<br />

41. (D) In Western societies, most dyslipidemias<br />

are secondary. The most common predisposing<br />

cause is diet, and the second common is DM.<br />

Hypothyroidism, renal disease, alcoholism,<br />

and anorexia nervosa are also associated with<br />

secondary dyslipidemias. Many drugs (e.g.,<br />

estrogen, glucocorticoids) can also cause secondary<br />

dyslipidemias. (Felig, pp. 1009–1015)<br />

42. (D) The most important factors in diet-induced<br />

cholesterol elevation are the amount of total<br />

fat and saturated fat consumed. Cholesterol<br />

intake is next in importance. Obesity and<br />

caloric excess usually result in high triglyceride<br />

levels. (Felig, p. 1010)<br />

43. (D) The elevated ALP and hydroxyproline are<br />

diagnostic for Paget’s disease. The bony lesions<br />

are blastic and the sacrum and pelvis are most<br />

frequently involved, followed closely by the<br />

tibia and femur. Hypercalcemia can complicate<br />

immobilization. The etiology is unknown, but<br />

a viral agent has been postulated. Symptoms<br />

may be absent or severe (pain, deformity). In<br />

metastatic cancers of most types the lesion are<br />

lytic, and the other metabolic abnormalities do<br />

not have an elevation in hydroxyproline.<br />

(Kasper, pp. 2279–2281)<br />

44. (A) Many affected persons with vitamin D deficiency<br />

have no demonstrable abnormality<br />

except for hypocalcemia, hypophosphatemia,<br />

and increased PTH levels. Decreased calcium<br />

absorption, which is vitamin D dependent,<br />

results in mild hypocalcemia that leads to the<br />

secondary hyperparathyroidism. This in turn<br />

results in increased renal phosphate excretion<br />

and hypophosphatemia. (Kasper, p. 2248)<br />

45. (B) Atrial fibrillation and cardiomegaly are<br />

common cardiac manifestations, but are more<br />

common in the elderly. Other symptoms include<br />

palpitations, tachycardia, nervousness, sweating,<br />

and dyspnea. Sinus tachycardia is the most<br />

common cardiac manifestation in a young individual<br />

with hyperthyroidism. (Kasper, p. 2113)<br />

46. (B) Needle biopsy can be used in numerous diseases,<br />

but the main rationale is to differentiate<br />

benign from malignant nodules. A thyroid scan<br />

is appropriate if the TSH is suppressed suggesting<br />

a possible “hot” nodule (hyperfunctioning<br />

nodules are very rarely malignant). The specimen<br />

must be read by an experienced cytologist.<br />

It is difficult to diagnose differentiated follicular<br />

carcinoma or to differentiate lymphoma from

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