Nutritional Rickets (Vit D-Deficiency) Osteomalacia Osteoporosis

- Age-related decrease in bone mass 2ry to uncoupling of

- Defect in mineralization of osteoid matrix caused by inadequate - Defect in mineralization of osteoid matrix caused by inadequate Ca &
osteoclast-osteoblast activity & disrupted microarchitecture:
Ca & Ph before physeal closure Ph After physeal closure
Postmenopausal 50-70 yrs (Type 1) - Senile > 70 yrs (Type 2)
Risk Factors:
1. ↓ dietary intake of Vit D 4. Hypophosphatemia 1. Age
1. ↓ dietary intake of Vit D 2. Malabsorption syndromes 5. Chronic alcoholism 2. Endocrine abnormality
2. Malabsorption syndromes 3. Renal osteodystrophy 6. Tumor-induced osteomalacia 3. Idiopathic
3. Chronic parenteral nutrition 4. Inactivity
4. Premature infants 7. Drugs associated é Vit D deficiency: Phenytoin, Phenobarbital, 5. Chronic alcoholism
Rifampin & Glucocorticoids 6. Calcium deficiency
Pathophysiology:
- ↓Vit D levels lead to ↓intes nal absorp on of Ca - ↓Vit D levels lead to ↓intes nal absorp on of Ca - Quantitative, not qualitative disorder of bone mineralization 2ry
- ↓ Ca levels leads to a compensatory ↑ PTH & bone resorption - ↓ Ca levels leads to a compensatory ↑ PTH & bone resorption to uncoupling of osteoclast-osteoblast activity & disrupted
- Bone resorption leads to ↑ Alkaline phosphatase levels - Bone resorption leads to ↑ Alkaline phosphatase levels microarchitecture
C/P:
1. Generalized muscular hypotonia 1. Generalized bone & muscle pain 1. Fragility #s: Pain & tenderness at fracture site
2. Frontal bossing & delays í closure of í anterior fontanelle. 2. Long bones, ribs & vertebrae #s 2. Kyphotic deformity can arise from verteberal body #s
3. Lower limb deformities: Bowlegs, knock-knees or Windswept. 3. Proximal muscle weakness 3. Pelvic ring insufficiency #s
4. Rachitic rosary: Prominent rib heads at í osteochondral junction 4. Fatigue
5. Harrison sulcus (Flaring over í diaphragm) & Pot belly 5. Waddling gait: due to hip pain & thigh weakness
6. Sternum may be pulled into a pigeon-breast deformity. 6. Difficulty rising from chair & climbing stairs
7. Kyphoscoliosis.
8. Joint Swelling around í ankle, wrist & elbows.
9. Dental disease
Imaging:
1. Physeal widening - Radiology: - Radiology: usually not helpful unless > 30% bone loss
2. Metaphyseal cupping 1. Fractures (Appendicular # predominance) 1. Fractures (Axial # predominance)
3. Decreased bone density 2. Looser's zones (Pseudo#): Medial femoral cortex & pubic ramus 2. Thinned cortices
4. Looser's zones: Pseudo# on í compression side of bone 3. Biconcave vertebral bodies 3. Loss of trabecular bone
5. Rachitic rosary: Prominent rib heads at í osteochondral junction 4. Trefoil pelvis 4. Kyphosis
6. Bowing (Often genu varum) 5. Protrusio acetabuli 5. Codfish vertebra
7. Codfish vertebrae - Bone scan: ↑ Activity - Dexa Scan: Measures BMD & compiles scores - Most accurate
Investigations:
- ↓ Vit D - ↓ Vit D - Normal Vit D
- ↑ Alkaline Phosphatase - ↑ Alkaline Phosphatase
- ↓ to Normal Serum Ca - ↓ Serum Ca - Normal Serum Ca & Ph
- ↑ PTH - ↑ PTH
- ↓ Serum Ph - ↓ Serum Ph - Normal Alkaline Phosphatase & PTH
Treatment:
1. Bisphosphonates: 1st line therapy
- Vit D: Daily dosage differs from 2000 - 5000 IU for 4-6 wks (till 2. Ca & Vit D: Px 1200 to 1500 mg/d Ca & 800 -1000 IU Vit D
- Large doses of oral Vit D (1000 IU/day), treat underlying cause
gaining therapeutic effect) then maintenance dose 500 IU daily 3. Estrogen replacement therapy: Postmenopausal osteoporosis
- Patients é renal disease : Supplement 1,25(OH)2 Vit D
for 3 yrs 4. Calcitonin, Raloxifene (Evista), Teriparatide (Forteo),
Denosumab (Prolia)
Dr. A. Samy TAG Bone Diseases | 1
 Hyperparathyroidism

Definition: Increased PTH production that may be of 1ry, 2ry or 3ry causes
Epidemiology: Pathophysiology: Associated conditions:
- 0.1% of í population - PTH indirectly stimulates osteoclasts by binding to its receptor on osteoblasts, inducing RANK-L & - Brown tumor: resembles a giant cell tumor of bone relating
- ♀> ♂ M-CSF synthesis to focal demineralization of bone in í setting of
- 90% result from a single adenoma - Excessive PTH leads to over-stimulation of bone resportion: Cortical bone > Cancellous bone hyperparathyroidism.
- 10% from parathyroid hyperplasia - Hyperparathyroidism & malignancy make up í majority of patients é hypercalcemia
Classification: Serum Ca Serum Ph Serum PTH
- Caused by hypersecretion of PTH by a Parathyroid adenoma or hyperplasia
Primary: ↑ ↓ ↑
- May result in Osteitis Fibrosa Cystica: Breakdown of bone, predominently subperiosteal bone, commonly involves í jaw
- Caused as a compensation from hypocalcemia (↓ gut Ca absorp on) or hyperphosphatemia (↑ Phosphorous)
Secondary: - Chronic renal disease: Causes hypovitaminosis D → leads to ↓ Ca absorption Normal or ↓ ↑ ↑
- Associated conditions:
- Renal Osteodystrophy: Bone lesions due to 2ry hyperparathyroidism
Tertiary: - Parathyroid glands become dysregulated after 2ry hyperparathyroidism (Secrete PTH regardless of Ca level) ↑ ↑ ↑
C/P: Investigation:
- Often asymptomatic Serology:
- Bone pain - 1ry: ↑ Ca & ↑ PTH
- Constipations - 2ry: ↓ Ca / Normocalcemia & ↑ PTH
- Weakness - Malignancy: ↓ PTH & ↑ Alkaline Phosphatase
- Kidney stones Urinalysis:
- Uncommon cause of 2ry hypertension - 1ry: Hypercalciuria (Renal stones) & ↑ cAMP
Radiograph:
- Cystic bone spaces (Salt & Pepper) Often in í skull
- Loss of phalange bone mass (↑ concavity)
- Brown Tumors
Treatment:
- Acute hypercalcemia: IV fluids + Loop diuretics
- Symptomatic hypercalcemia: Treated surgically é Parathyroidectoy
- Complications include Post-op hypocalcemia
- Manifests as numbness, tingling & muscle cramps
- Should be treated é IV calcium gluconate
Complications:
- Peptic ulcer disease: ↑ gastrin produc on s mulated by ↑ Ca
- Acute pancreatitis: ↑ lipase ac vity s mulated by ↑ Ca
- CNS dysfunction: Anxiety, confusion & coma result of metastatic calcification of í brain
- Osteoporsis: Bone loss occurs as result of bone resorption due to excess PTH

Dr. A. Samy TAG Bone Diseases | 1