Dramatic Response in Polyostotic Fibrous Dysplasia by Pamidronate

Abid Rasool *¹, Ajaz qadir ², M.A.Ganie ³, Tajali Sahar ⁴, Omair Shah ⁵

1. Senior Resident, Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences.

2. Senior Resident Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences.

3. Professor, Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences.

4. Phd, Scientist B, Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences.

5. Senior Resident Department of RADIODIAGNOSIS, Sher-I-Kashmir Institute of Medical Sciences.

Corresponding Author: Abid Rasool, Senior Resident, Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences.

Copy Right: © 2023 Abid Rasool, This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Received Date: January 27, 2023

Published Date: February 10, 2023

Fibrous dysplasia is uncommon and is picked up incidentally when patient complaints fractures, or deformity or bony pain. It is divided into monostotic and polyostotic forms. We describe a 16-year-old female who started with deformity of right ring and little finger following trivial trauma at the age of 4 years with bony pains. Historically, did not have any features suggestive of   precocious puberty. Investigations were normal but skeletal survey was showing multiple hyperlucent bony cyst involving right upper and lower limb. She was diagnosed polyostotic fibrous dysplasia and started on injection pamidronate 90mg for 3 days and repeated after six months. She showed dramatic response in pain and imaging also showed improvement.

Introduction

Fibrous dysplasia (FD) is a sporadic, tumour-like, benign skeletal disorder originally described by Lichtenstein in 1938 [1] and by Lichtenstein and Jaffe in 1942 [2]. FD is often asymptomatic. However, FD often leads to bone pain, deformities, or pathological fractures. FD is classified into two types: monostotic FD affects only a single bone, and polyostotic FD presents the involvement of multiple bones. While small monostotic FD lesions occur more frequently than polyostotic FD, they result in fewer complications. Conversely, polyostotic lesions tend to enlarge and result in severe complications [3, 4]. We describe a case of polyostotic fibrous dysplasia who responded dramatically by pamidronate injection.

Case

16 years female fourth in birth order product of non-consanguineous marriage born by full term vaginal delivery with uneventful perinatal and postnatal history with normal developmental milestones, presented history of bony pains and asymmetrical swelling of right ring and little finger along with swelling around 4th and 5th metacarpal and deformity of right forearm post trivial trauma with fracture 10 years ago. It was associated with pain, redness and limitation in mobility. There is also history of trivial trauma of right leg, followed by fracture and swelling and limp on walking six years ago. There is no family history of similar disease. Patient achieved menarche at the age of 15 years. Clinical exam: SMR: A2B2P2, Height 163 cm (50-75th percentile), Weight 35 kg (3rd percentile). Deformity of right little and ring finger, bony hard in consistency, mild tenderness and redness. Deformity of right leg with circumferential swelling, hard in consistency, no tenderness or redness, Spine mild scoliosis, no café lait spots or features of precocious puberty.  Patient was admitted and on evaluation investigations revealed following.

Skeletal survey revealing multiple hyperlucent bony cystic lesions at various sites including right upper limb, right lower limb suggestive of polyostotic fibrous dysplasia.

Bone scan was also consistent with polyostotic fibrous dysplasia. Patient was subjected to Pamidronate 30mg/ day for 3 days on 24/5/21(1ST cycle). Patient is now in our follow up and post 1st cycle there is marked improvement in pain from initial VAS (visual analogue scale) 8/10 to 5/10.

Discussion

Fibrous dysplasia (FD)is very rare disease which is often associated with bone pain, deformity and fractures. Histologically there is excessive fibrous tissue in bone marrow due to mutated osteoblasts and high number of osteoclasts and evidence of bone resorption [5]. Thus, increased bone resorption may play a role in development of fibrous dysplasia.

This justifies use of bisphosphonates as treatment for FD. Mostly commonly pamidronate has been used as a bisphosphonate and promising result has been obtained in terms of improvement in bone pain.

Liens et al [6] studied nine patients with symptomatic and severe fibrous dysplasia who were treated with intravenous pamidronate (60 mg per day for 3 days every sixth month) and were followed up for as many as 4 years.  Major effect they saw was decrease in bone pain.

Chapurlat et al [7] who assessed the long-term effects of intravenous pamidronate in patients with fibrous dysplasia. In their study, 20 patients (11 males and nine females; mean age, 31 years) received courses of 180 mg of intravenous pamidronate every 6 months (60 mg/day during 3 days by infusion). The mean duration of follow up was 39 months (range, 18–64 months). Severity of bone pain, number of painful skeletal sites per patient, radiographs of all involved areas, serum alkaline phosphatase, fasting urinary hydroxyproline, and urinary Type I collagen C-telopepide were assessed every 6 months. The severity of bone pain and the number of painful sites seemed to be reduced significantly. All biochemical markers of bone remodelling were lowered substantially. The authors reported a positive radiographic response in nine patients because they observed refilling of osteolytic lesions. They suggested that intravenous pamidronate alleviated bone pain, reduced the rate of bone turnover as assessed by biochemical markers and improved radiologic lesions of fibrous dysplasia

 A recent report by Pfeilschifter and Ziegler [8] reported the results of treatment of eight patients (three with fibrous dysplasia and five with McCune-Albright syndrome) with intravenous infusions of 60 mg of pamidronate. All patients had significant improvement of pain whereas two patients also had a reduction in size of some of the osteolytic lesions.

 In our case report there was reduction in bone pain and improvement in radiology. So, it may be suggested to use bisphosphonate especially pamidronate in fibrous dysplasia for pain management and fracture reduction.

References

1. Lichtenstein, Polyostotic fibrous dysplasia, Archives of Surgery, vol. 36 1938: pp 874–898.

2. L. Lichtenstein and H. L. Jaffe, Fibrous dysplasia of bone. A condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extra-skeletal abnormalities, Archives of Pathology, vol. 33, pp.  1942 :777–816.

3. DiCaprio MR, Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am. 2005 Aug; 87(8):1848-64.

4.  Henry A. Monostotic fibrous dysplasia. J Bone Joint Surg Br. 1969 May;51(2):300-6.

5. Riminucci M, Liu B, Corsi A, Shenker A, Spiegel AM, Robey PG, et al. The histopathology   of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: site-specific patterns and recurrent histological hallmarks. J Pathol. 1999 Jan;187(2):249-58.

6. Liens D, Delmas PD, Meunier PJ. Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. Lancet. 1994 Apr 16;343(8903):953-4.

7. Chapurlat RD, Delmas PD, Liens D, Meunier PJ. Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. J Bone Miner Res. 1997 Oct;12(10):1746-52.

8. Pfeilschifter J, Ziegler R. Effect of pamidronate on clinical symptoms and bone metabolism in fibrous dysplasia and McCune-Albright syndrome. Med Klin (Munich). 1998 Jun 15;93(6):352-9