Nutritional Diseases

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OBJECTIVE:

Apply your knowledge of nutrition and diet with general pathology to interpret clinical historical and laboratory findings to understand mechanisms and patterns of nutritional disease processes.

CASE 1

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Clinical History:

A 22-year-old woman is in the 2nd trimester of her first pregnancy (G1 P0). An ultrasound performed at 18 weeks gestation showed a normal male fetus with no apparent abnormalities. She has felt progressively more tired and weak as the weeks have passed, however. She delivers a 2400 gm baby at 38 weeks gestation. The Apgar scores are 6 at 1 minute and 8 at 5 minutes. The baby has a pale color. Both baby and mother continue to appear pale and somewhat listless at well-baby checkups in the ensuing 3 months.

A CBC is ordered on the mother and shows:

  • WBC count 8500/uL

  • Hgb 9.8 g/dL

  • Hct 26.5%

  • MCV 70 fL

  • Platelet count 181,000/uL

Questions:

  1. How do you interpret the CBC?
  2. What is the most likely cause for these findings?
  3. What other laboratory tests can you do to confirm the diagnosis?
  4. What are the dietary sources to alleviate this problem?
  5. What pharmacologic therapy is available to treat this condition?


CASE 2

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Clinical History:

A 48-year-old man has been tired and listless for the past 9 months. He lives alone in a small, run-down apartment near the downtown section of a large city. He is visited by a friend, who notes the presence of pizza delivery boxes scattered throughout the apartment, as well as a refrigerator containing 20 cans of beer and nothing else except for a pint of soured milk, half a loaf of stale bread with green patches, and an apple with something growing on it that is fuzzy and pink. The man states that he has had a feeling of nausea for months and as a consequence has a reduced appetite. On examination he has paresthesias of his lower legs. An upper GI endoscopy shows diffuse gastric rugal atrophy.

A CBC shows the following:

  • WBC count 6190/uL

  • Hgb 9.1 g/dL

  • Hct 28.3%

  • MCV 129 fL

  • Platelet count 331,000/uL

Questions:

  1. How do you interpret the CBC?
  2. What is the probable cause for these findings?
  3. How could you confirm your diagnosis?
  4. What are dietary sources to alleviate this problem?
  5. Is there a medication available to treat this condition?


CASE 3

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Clinical History:

A 57-year-old woman has experienced episodes of chest pain recently. These episodes have occurred when she has walked only a couple of city blocks from the courthouse where she works to the fast food place where she eats her usual lunch--a double cheeseburger with order of fries. On examination her height is 165 cm (5' 5") and weight 84 kg (185 lbs). Her heart rate is 81/min and regular with no murmurs. Her blood pressure is 140/90 mm Hg.

Laboratory findings show:

  • Triglycerides 182 mg/dL (<200 mg/dL)

  • Total cholesterol 276 mg/dL (<200 mg/dL)

  • LDL cholesterol 211 mg/dL (<110 mg/dL)

  • HDL cholesterol 29 mg/dL (>60 mg/dL)

Questions:

  1. How do you interpret these findings?
  2. What is the probable cause for these findings?
  3. What can be done to help?
  4. Is there a medication available to treat this condition?


CASE 4

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Clinical History:

A 46-year-old man is 173 cm (5' 8") tall and weighs 107 kg (236 lbs). He gets little exercise. His favorite pastime is watching TV sports (not playing a sport). He has had no major illnesses. A physical examination shows no significant findings.

A serum chemistry panel reveals the following:

  • Na 139 mmol/L

  • K 4.4 mmol/L

  • Cl 99 mmol/L

  • CO2 24 mmol/L

  • Cr 1.5 mg/dL

  • BUN 25 mg/dL

  • Glucose 228 mg/dL

  • Total protein 7.3 g/dL

  • Albumin 5.1 g/dL

  • Bilirubin, total 0.9 mg/dL

  • Alk Phos 29 U/L

  • AST 29 U/L

  • ALT 30 U/L

  • Hgb A1C 9.2%

Questions:

  1. What do the findings suggest?
  2. What are possible health problems in the future?
  3. What are possible lifestyle modifications to prevent these problems?
  4. What pharmacologic therapies are available?
  5. What is this man's socioeconomic status most likely to be?


CASE 5

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Clinical History:

A 22-year-old primigravida has a normal prenatal course. Her baby is born at term and weighs 3220 gm. Apgar scores are 9 and 10 at 1 and 5 minutes. Following delivery, physical examination reveals that the infant has a 5 cm mid-thoracic meningomyelocele.

Questions:

  1. How could the risk for this condition have been reduced?
  2. What diagnostic test(s) during pregnancy could have suggested the presence of this problem?
  3. What are potential outcomes for fetuses with neural tube defects?


CASE 6

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Clinical History:

During the voyage of Ferdinand Magellan (1520-1522) many hardships were encountered. Sailing farther and farther south from Europe in 1520, the weather became much colder, putting the crew in danger of frostbite and serious illness. The situation worsened when one of five ships smashed into the beach and the supplies and ship were lost, although the crew were rescued. In October of 1520, a lookout spotted the strait, which became known as the Straits of Magellan, leading to the Pacific Ocean. Though smooth sailing was ahead, crossing the Pacific took months. Suffering among crew members worsened further as they began running out of food. Extreme hunger caused the men to eat such things as rats, leather, maggots, and sawdust just to stay alive. By the time the expedition reached Asia in March of 1521, many crew members exhibited progressive weakness from anemia, soft and inflamed gingiva with loose teeth, swollen and tender joints, myalgias, poor wound healing following even minor injuries, and purpuric areas on their skin. "Bumps" on their skin represented hyperkeratotic hair follicles with surrounding hemorrhage.

Questions:

  1. What specific nutritional deficiency is suggested by these findings?
  2. How could this situation have been prevented?
  3. What is the mechanism by which the pathologic findings are produced?
  4. What laboratory findings may be present?
  5. In the modern world, who is at risk for these problems?
  6. What are good dietary sources?


CASE 7

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Clinical History:

A 24-year-old woman has the homozygous deltaF508 mutation of the CFTR gene. She has had problems with respiratory tract infections for years. She has a chronic diarrhea with large amounts of foul-smelling stools. Her body mass index is 19. She is noted to have several contusions of varying ages, ranging from red to blue to purple to brown, scattered over her lower legs and arms. She has generalized muscle weakness. A neurologic examination shows absent deep tendon reflexes. She has reduced sensation to vibration and pain. MRI imaging of her brain shows hyperintense areas of white matter with FLAIR mode and bright areas of spinal cord posterior columns with T2 weighting.

Laboratory findings include:

  • WBC count 8150/microliter

  • Hgb 13.2 g/dL

  • Hct 40.8%

  • MCV 94 fL

  • Platelets 188,000/microliter

  • Prothrombin time 24 sec (control 12.2 sec)

  • Partial thromboplastin time 22.5 sec (control 23.1 sec)

  • Quantitative stool fat 10 gm/day (normal <6) [note: laboratory technicians consider such specimens a form of bioterrorism]

Questions:

  1. What underlying disease does she have?
  2. What problem in the gastrointestinal tract has resulted from this disease?
  3. What nutrient deficiencies could she have?
  4. What are dietary sources?
  5. Is there a therapy for her underlying condition?


CASE 8

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Clinical History:

A 65-year-old woman lives alone in a small trailer in a trailer park. She is living off of pension benefits and meager savings, but the rent takes most of her income. She eats sparingly, mostly just sandwiches with bread and cheese, and some canned soup. She doesn't go out much, mostly to Friday night bingo. She gets little exercise. She incurred a fracture to her right wrist in a fall several months ago. After an open reduction-internal fixation (ORIF) procedure, the fracture is still not completely healed.

Questions:

  1. What do you suspect?
  2. Is there laboratory testing that is of value?
  3. What does this dietary deficiency cause in children?
  4. What are dietary sources?


CASE 9

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Clinical History:

A 15-year-old girl is brought in to you by her mother, who is concerned about her daughter's health, after several recent episodes of fainting. The mother states that the girl has become a very picky eater over the past two years and rarely wants to sit with the family at mealtimes, but rather remain in her room reading fashion magazines or exercising. She describes most of the foods her mother prepares as bad or dangerous. She will often prepare elaborate meals for the rest of the family which she does not eat herself. When asked about her eating habits, the girl states that she gets plenty to eat and is concerned about not becoming too fat. She began menstruation at age 13 with irregular periods, but menstruation stopped 8 months ago. Her body mass index is 16.5. Physical examination reveals decreased muscle mass of extremities and decreased strength. Neurologic examination reveals no deficits. She has a rash consisting of 1 to 3 cm slightly raised rough red-surfaced areas on both forearms.

Laboratory findings include:

  • WBC Count 9070/microliter

  • Hgb 11.9 g/dL

  • Hct 35.8%

  • MCV 77 fL

  • Platelet count 307,000/microliter

  • Na 141 mmol/L

  • K 4.2 mmol/L

  • Cl 103 mmol/L

  • CO2 25 mmol/L

  • Cr 0.6 mg/dL

  • BUN 12 mg/dL

  • Glucose 58 mg/dL

  • Total protein 6.0 g/dL

  • Albumin 3.2 g/dL

  • Bilirubin, total 0.4 mg/dL

  • Alk Phos 109 U/L

  • AST 23 U/L

  • ALT 20 U/L

Questions:

  1. What do you suspect in this case?
  2. What are organ-related consequences of this condition?
  3. What can be done for this condition?
  4. The girl's 16-year-old friend advises that she has her own solution, "I eat everything I want, and then force myself to vomit all of it up, or I just stop eating for a couple of days. It works for me." What is the problem here?
  5. What has caused the skin rash?
  6. What ethical issues are raised by this case?


CASE 10

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Clinical History:

A 35-year-old man and his buddies at the biker's gathering in Sturgis, South Dakota, are extolling the virtues of the "beer diet" to which they all strongly adhere. Their physical appearance is typical: early middle-aged guys with beards whose bandanas cover balding heads and who have big guts hanging over their belts as they tool down main street. This is what makes America great. Any dietary advice to this crowd will be met with little enthusiasm.

Classic laboratory findings would include:

  • WBC 6030/microliter

  • Hgb 12.9 g/dL

  • Hct 39.9%

  • MCV 104 fL

  • Platelet count 201,000/microliter

  • Na 143 mmol/L

  • K 4.3 mmol/L

  • Cl 99 mmol/L

  • CO2 26 mmol/L

  • Cr 1.6 mg/dL

  • BUN 22 mg/dL

  • Glucose 112 mg/dL

  • Total protein 6.4 g/dL

  • Albumin 3.5 g/dL

  • Bilirubin, total 1.2 mg/dL

  • Alk Phos 45 U/L

  • AST 88 U/L

  • ALT 56 U/L

Questions:

  1. What do the laboratory findings indicate?
  2. What is the downside to increased ethanol consumption?
  3. Is the biker better off than you? (question for self-reflection)


CASE 11

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Clinical History:

Two laboratory employees continue to argue with each other for weeks over petty issues such as organization of reagents in the supply cabinet, times for breaks, the length of labcoats, font sizes in the manuals, etc. Around other employees and the supervisor, these persons are sullen and morose. They have become less productive. One day the supervisor catches them in yet another argument. She takes them both into the break room and gives them each a big slice of German chocolate cake while they discuss their problems on the job. Everyone goes back to work happy.

Questions:

  1. What is the explanation for these findings?

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