GI #11 Flashcards

1
Q

What bacteria causes Whipple’s Disease?

A

-Tropheryma Whipplei: gram positive non acid-fast positive rod

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2
Q

Transmission of Whipple’s Disease

A

-Contaminated soil (most commonly seen in farmers)

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3
Q

Symptoms of Whipple’s Disease

A
  • Malabsorption: chronic diarrhea, weight loss, steatorrhea, fever, LAD
  • Nondeforming arthritis: (doesn’t change shape of bones)
  • Neurologic symptoms: memory impairment, confusion, rhythmic motion of eye while chewing
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4
Q

How do you diagnose Whipple’s Disease?

A
  • Duodenal biopsy: periodic acid-Schiff (PAS)-positive macrophages
  • -Dilation of lacteals in small intestine
  • -Non-acid-fast bacilli
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5
Q

Treatment for Whipple’s Disease

A
  • ABX therapy is prolonged (1-2 years): Penicillin or Ceftriaxone followed by maintenance therapy of Bactrim orally
  • Alternative: Doxy + Hydroxychloroquine
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6
Q

What is G6PD deficiency?

A

An X-linked recessive enzymatic disorder of RBC’s that may cause episodic hemolytic anemia

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7
Q

What are some risk factors for G6PD deficiency?

A
  • Primarily males (X-linked recessive)
  • 10-15% of African American males
  • Mediterranean, African, Middle Eastern, SE Asian
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8
Q

What is the pathophysiology of G6PD deficiency?

A
  • G6PD normally catalyzes NADP to NADPH which protects the RBCs from oxidative injury
  • In this condition, decreased G6PD activity results in oxidative form of Hb (methemoglobin) which predicates as Heinz bodies
  • RBC membrane damage and fragility causes hemolysis by macrophages
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9
Q

What are some exacerbating factors for G6PD deficiency

A
  • Infection (MCC)
  • Fava beans
  • Medications: Dapsone, Primaquine, Methylene blue, Nitrofurantoin
  • Sulfa drugs at high doses
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10
Q

True or False: Most patients with G6PD deficiency are asymptomatic until oxidative stress?

A

True

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11
Q

What are some symptoms of oxidative stress in G6PD deficiency?

A
  • Symptoms begin 2-4 days after exposure
  • Back or abdominal pain
  • Anemia, jaundice, dark urine
  • Neonatal Jaundice
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12
Q

What is seen on a peripheral smear for G6PD deficiency?

A

Normocytic hemolytic anemia only during crises

  • Schistocytes (bite or fragmented cells)
  • Heinz bodies (HALLMARK)
  • -Smear is usually normal when not in acute stage
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13
Q

What is the management for G6PD deficiency attack?

A

Usually self-limited, avoid offending foods and drugs

-If severe anemia, iron and folic acid supplementation

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14
Q

Treamtent for neonatal jaundice

A

Phototherapy is first line

-Exchange transfusion if refractory

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15
Q

What is Paget Disease of the Bone (Osteitis Deformans)

A

Abnormal bone remodeling (increased osteoclastic resorption and increased osteoblastic bone formation). This leads to larger, weaker bones

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16
Q

Who is at risk for Paget Disease?

A
  • Western European descent

- > 40 years old

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17
Q

Symptoms of Paget Disease of the bone

A
  • Most asymptomatic (found incidentally due to high alkaline phosphatase on labs)
  • Bone pain (MC)
  • Skull enlargement: deafness due to compression of CNVIII
  • Headache
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18
Q

What is the hallmark lab finding for Paget Disease of the bone?

A

-Isolated markedly increased alkaline phosphatase

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19
Q

What do skull radiographs show in Paget Disease of the bone?

A

-Cotton wool appearance: sclerotic patches that are poorly defined and fluffy

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20
Q

How do you treat Paget Disease of the bone?

A
  • If asymptomatic, no treatment is needed.
  • Bisphosphonates are first line management.
  • NSAIDs for pain
  • Calcitonin
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21
Q

What is given during bisphosphonate treatment to prevent hypocalcemia?

A

-Vitamin D and Calcium supplementation

22
Q

What is the mechanism of action of Bisphosphonates?

A

-Inhibits osteoclast activity (decrease bone resorption and turnover)

23
Q

What is special about Aledronate and Risedronate?

A

They inhibit both osteoclast and osteoblast activity

24
Q

Osteoblasts:
Osteoclasts:

A

Blasts build

Clasts break down

25
Q

What are some considerations to take into account when giving bisphosphonates?

A
  • Take with 8 ounces of plain water as well as 1-2 hours before meals, aspirin, Ca, Mg, Al and antacids
  • Poor oral absorption
  • Calcium And Vitamin D supplementation recommended
26
Q

What are some adverse effects of bisphosphonates

A
  • Esophagitis (especially Aledronate) and must stay upright for 30 minutes
  • MSK pain
  • GI symptoms and Flu-like symptoms
  • Atypical femur fractures and osteonecrosis of the jaw (rare)
27
Q

Contraindications for bisphosphonate use

A
  • Esophageal disorders
  • CKD
  • Hiatal hernia, esophageal stricture, dysphagia
28
Q

What is phenyketonuria (PKU)

A

Autosomal recessive disorder or amino acid metabolism associated with phenylektone neurotoxicity due to accumulation of phenylalanine in the urine and blood

29
Q

PKU neurotoxicity is irreversible if not detected by what age?

A

3 years old

30
Q

Symptoms of PKU

A

Presents after birth with vomiting, mental delays, irritability, convulsions, eczema, increased DTR.

31
Q

What do children with PKU normally look like?

A

Blonde, blue-eyed with fair skin

32
Q

How to diagnose a patient with PKU?

A
  • Increased serum pheylalanine

- Urine has a musty odor (from phenyl acetic acid)

33
Q

When can PKU screening be performed in a newborn in the US?

A

24 weeks gestational age

34
Q

What is the management for a patient with PKU?

A
  • Lifetime dietary restriction of phenylalanine (avoid foods such as milk, cheese, nuts, fish, chicken, eggs, legumes, diet soda)
  • Increase tyrosine supplementation
35
Q

What are some risk factors for Vitamin C (Ascorbic Acid) Deficiency?

A
  • Diets lacking raw citrus fruits and green vegetables
  • Smoking
  • Illicit drug use
  • Alcoholism
  • Elderly
36
Q

Symptoms of Vitamin C Deficiency (Scurvy)

A
  • Hyperkeratosis (follicular papules surrounded by hemorrhage). Coiled hairs.
  • Hemorrhage: recurrent hemorrhages in gums, skin, and joints. Impaired wound healing
  • Hematologic: anemia, glossitis, malaise, weakness, increased bleeding time
37
Q

Treatment for Vitamin C deficiency

A
  • Ascorbic acid replacement

- Heme symptoms improve in weeks, general symptoms within days

38
Q

What is osteomalacia?

A

-Decreased osteoid mineralization (soft bones)

39
Q

Etiologies of Osteomalacia

A
  • Severe Vitamin D Deficiency (MC)

- Malabsorption

40
Q

What is Vitamin D deficiency in children called?

A

Rickets

41
Q

Symptoms of Osteomalacia

A
  • Asymptomatic initially
  • Diffuse bone pain and tenderness
  • Muscular weakness (proximal)
  • Hip pain may cause waddling gait
  • Bowing of long bones
42
Q

Diagnostics for Osteomalacia

A
  • Decreased calcium, phosphate, and 25-hydroxyvitamin D levels
  • Increased alkaline phosphatase and PTH
43
Q

On radiographs, what is shown with Vitamin D deficiency?

A

Looser lines (zones) - transverse pseudo-fracture lines

44
Q

What is the management for osteomalacia and rickets?

A

-Vitamin D supplementation (Ergocalciferol)

45
Q

Why does Vitamin D deficiency occur in children?

A
  • Calcium needs to be high between 3 months and 3 years for growth
  • Decreased sunlight exposure
  • Prolonged breastfeeding without Vitamin D supplementation
46
Q

Symptoms of Rickets

A
  • Delayed fontanel closure
  • Growth delays
  • Delayed dentition
  • Genu Varum (lateral bowing of femur and tibia)
47
Q

What are some functions of Vitamin A

A
  • Vision
  • Immune function
  • Embryo development
  • Skin and Cellular Health
48
Q

What are some good sources of Vitamin A

A
  • Egg yolk
  • Butter
  • Green leafy vegetables
49
Q

What are some symptoms of Vitamin A excess?

A

-Blurry vision, nausea, vomiting, vertigo, idiopathic intracranial hypertension

50
Q

What are some risk factors for Vitamin A deficiency?

A
  • Liver disease
  • ETOH
  • Fat-free diets (it is a fat-soluble vitamin)
  • Fat malabsorption (CF, bariatric surgery)
51
Q

Symptoms of Vitamin A deficiency

A
  • Visual changes: night blindness, xerophthalmia (dry eyes), retinopathy
  • Impaired immunity: delayed wound healing, dry skin, taste loss, poor bone growth
  • Squamous metaplasia: conjunctiva, respiratory epithelium, urinary tract
  • Bitot’s Spots: white spots on conjunctiva