A Routine Check-up 
Reveals a Significant 
Genetic Abnormality

A Routine Check-up ?Reveals a Significant ?Genetic Abnormality
A Routine Check-up ?Reveals a Significant ?Genetic Abnormality

As a part of his employer's incentive pay program, Mr. B came in for a routine physical. He was a seemingly healthy 37-year-old white man with no medical complaints to report.

Mr. B worked as a correctional officer and, as such, was encouraged to keep his health records current. His annual exam was supposed to be pro forma, but it revealed silent traits that even he was astonished to find.


HISTORY
Mr. B appeared in robust health and had an unremarkable medic­al history. His family history was positive for diabetes (a paternal grandfather), and hypertension (his father). Mr. B had stable, though stressful, employment, with no evident signs of depression.

Married with two children, Mr. B mentioned that he exercised regularly — often daily. He engaged in both aerobic activity and weight training and reported no nicotine habits and minimal alcohol intake (three beers per week). Mr. B also noted that approximately once a month he used ibuprofen for muscle aches. 


His immunizations, including hepatitis B vaccine series, were up-to-date. His tuberculin skin test, done within the past year, was negative. Except for occasional mild muscle aches or pains, which he associated with his physical activity, Mr. B showed no symptoms of disease. 


EXAMINATION & LABORATORY TESTS
Mr. B's vital signs on physical examination were good: BP 134/80 mm Hg; pulse rate 98 beats/minute; temperature 98.4° F; and oxygen saturation 98%. Mr. B was 5'8" tall and weighed 
162lbs, with a BMI of 24.63. His complete physical was essentially normal.

Mr. B had not had laboratory work done in more than three years. At this visit, routine lab work was ordered, including a fasting lipid panel, fasting blood sugar, alanine transaminase (ALT) test, creatinine and a complete blood count. All results were within normal range except for a mildly elevated ALT at 
45U/L (normal <36U/L).