This document discusses osteitis fibrosa cystica (OFC), a rare bone disease caused by hyperparathyroidism. It defines OFC as a loss of bone mass replaced by fibrous tissue. Clinical features include bone pain, fractures, and brown tumors. Diagnosis involves lab tests showing high calcium and PTH levels. Treatment is typically parathyroidectomy to remove the overactive parathyroid gland(s), which can reverse bone changes. Prognosis is good if caught early and treated with surgery.

1. OSTEITIS FIBROSA
CYSTICA
Dr. Bipul Borthakur ( Professor )
Dept of Orthopaedics, SMCH

2. OVERVIEW
 Definition
 Epidemiology
 Pathogenesis
 Causes
 Clinical Features
 Diagnosis
 Management
 Prognosis

3. DEFINITION
Osteitis fibrosa cystica
 skeletal disorder
 loss of bone mass
 calcified supporting structures are
replaced with fibrous tissue (peritrabecular
fibrosis)
 formation of brown tumors (cyst ) in and
around the bone.

4. • also known as
 osteitis fibrosa,
 osteodystrophia fibrosa,
 von Recklinghausen's disease of bone
• caused by hyperparathyroidism - surplus of parathyroid hormone
from over-active parathyroid glands

5. EPIDEMIOLOGY
• Rare disease
• Occurs in 2% of individuals with primary Hyper PTH –
accounting for 90 % of it
• 10 % - associated with primary hyperplasia
• < 1 % - parathyroid carcinoma - in individuals around 50 yrs
of age

6. • Male = Female
• Primarily affects younger individuals with age < 40 yrs
• 70 % cases occurs < 20 yrs of age
• 85 % cases occurs < 35 yrs of age
• Common in Asiatic countries

7. PATHOPHYSIOLOGY
CHRONIC RENAL DISEASE
( decrease functional mass )
CHRONIC RENAL DISEASE
( decrease functional mass )
Decrease excretion
of phosphorus
Decrease activation
of vitamin D3
Increase serum
phosphorus
Lower serum calcium level
Increase in PTH secretion

8. Rapid osteoclastic turnover of bone
Calcium mobilized from bone
Normal or increase serum calcium level
In regions with rapid bone loss , Haemorrhage , reparative
granulation tissue & vascular proliferating fibrous tissue -
Replace the normal marrow content
OSTEITIS FIBROSA CYSTICA

9. CAUSES
1) PARATHYROID ADENOMA
Benign , metabolically active
Comprises 80 -85 % of documented case of Hyper PTH
2) HEREDITARY FACTORS
Familial hyperparathyroidism
MEN Type 1 - Autosomal dominant disorder
Hyperparathyroidism - jaw tumour syndrome

10. • mutations leading to hyperparathyroidism
- parathyroid harmone receptor
- G – proteins
- Adenyl cyclase
- Gene HRPT2 – protein parafibromin
3 ) PARATHYROID CARCINOMA

11. 4 ) RENAL COMPLICATIONS
Renal osteodystrophy - skeletal complication of ESRD
decrease calcitriol production from kidney
increase PTH level
mobilize calcium from bone
5 ) FLUORIDE INTOXICATION

12. CLINICAL FEATURES
• Bone pain or tenderness
• Bone fractures
• Skeletal deformities - Bowing of the
bones

13. • Hyper PTH - Kidney stones , nausea ,
constipation
• Parathyroid carcinoma -
weight loss
appetite loss
polyuria
polydipsia
palpable neck mass in approx. 50 % of
sufferers

14. DIAGNOSIS
 Lab test reveals
 ↑ Calcium level ( N – 8.5 - 10.2 mg/ dl )
 ↑ PTH level ( > 250 pg /dl ) ( N – 65 pg/ ml )
 ↑ ALP level ( N – 20 – 140 IU /L )

15. • X – Ray
 extreme thin bones - bowed or
fractured
M/C affected - fingers (bone resorption)
Skull x-ray - Ground glass/salt & pepper
appearance
• SESTAMIBI NUCLEAR SCAN
 diagnose Brown tumour - cyst lined
by osteoclast & sometimes blood
pigments

16. FINE NEEDLE ASPIRATION ( FNA )
biopsy of the bone lesion - fibrosis &
intertrabecular tunnels
Brown tumours - display osteoclast
Benign , dense , granular cytoplasm
nucleus - ovular in shape
fine chromatin
nucleoli smaller than average

17. MANAGEMENT
 MEDICAL
 Vitamin D ( alfacalcidiol or calcitriol ) - given IV
Treat not only Hyper PTH , but also regress the brown
tumour or other symtom of OFC

18. SURGERY
 Severe case of OFC - PARATHYROIDECTOMY
Result in removal of bone resorption & complete
regression of brown tumours
 Bone transplants - succesful in filling lesion caused by
OFC

19. PROGNOSIS
• After parathyroidectomy
* increase bone density & repair of skeleton within weeks
* regression of brown tumours within six months
Following parathyoidectomy - hypocalcemia is common

20. THANK YOU
“krodhādbhavati sammohaḥ
sammohātsmṛtivibhramaḥ
smṛtibhraṃśād buddhināśo buddhināśātpraṇaśyati”
“From anger there comes delusion; from delusion, the loss of
memory; from the loss of memory,
the destruction of discrimination; and with the destruction of
discrimination, he is lost.”