Digest of correspondence with the Orthopod Mailing List June 1998


Initial message

Gorham's Disease in 57 yr old drywaller

Myles Clough cloughs@wkpowerlink.com
Wed, 03 Jun 1998 18:08:25 -0700

My patient is a 57 yr old R handed dry-waller (plasterer for the Brits) who fractured his L olecranon on Monday 1st. June. He has a biopsy-proven diagnosis of Gorham's (Disappearing Bone) Disease after a fracture of the L distal radius in 1990. At that time he had failed cast treatment for the undisplaced fracture and was referred to an orthopaedic surgeon at 6 weeks. Open reduction with a plate and bone graft was undertaken. The bone was noted to be porotic on Xray and "strange" at the time of surgery. Strange enough to take a bone biopsy which showed a chronic inflammatory infiltrate. Both radius and ulna gradually disappeared and a year post injury he had a further operation to fuse radius to the carpus. This also failed with more osteolyis. In 1994 he was worked up for vascularised fibular transfer. As part of the workup a further bone biopsy was taken and this was diagnostic for Gorham's Disease (don't ask me what the definitive features are I am trying to find out from Vancouver). He then went ahead with the vascularized fibular graft from ulna to metacarpal with adjunctive radiotherapy and healed. He has a stiff wrist, poor hand function and no rotation of the forearm but did go back to his business (dry walling). He sued the original orthopaedic surgeon for not recognizing the condition - I don't know the outcome of that. The current injury resulted from a fall at work and he is covered by WCB.
At the time of admission I discussed the condition with the surgeon in Vancouver who had done the fibular graft. He recommended I fix the fracture and take a biopsy. I did this yesterday and found reasonably normal looking bone, osteopaenic on Xray. Fixation appeared OK (tension band wiring). I considered removing the previous ulna plates and putting on a proximal plate for additional fixation. Decided against it because of the additional trauma. I also believe that if the disease starts in the fracture nothing will be effective and that if it doesn't he should heal with the fixation he has. I have taken decalcified and
undecalcified specimens and have discussed them in person with our pathologists; the undecalcified specimen will be sent to Vancouver and I have asked one of the metabolic bone disease experts there to review the situation and look up the older material as well. My discussions with the patient have been doomladen.
Goreham's disease is most often seen in young people and is thought to be self limiting at about age 25. All the literature I could find was "Report of a case and review of the literature" type with the general impression that there are only about 150 cases reported. The infiltration is thought to be similar to an extremely aggressive haemangioma and may be provoked by trauma. None of the reports deals with repeat fractures in an affected bone. Adjunctive therapy recommended includes diphosphonate (but there is no increased osteoclastic activity), radiotherapy (he may have had the maximum dose already) and interferon (recommended for inhibiting haemangioma formation).
Questions
Any suggestions about adjunctive therapy to reduce the chance of massive osteolysis?
Will the results of the bone biopsy change management?
If the worst happens would advancing the triceps to the distal fragment work?
Anyone with experience treating Goreham's Disease in later life? with repeat injuries?
Why me?


Reply from DL Shaw Consultant Orthopaedic Surgeon dlshaw@orthonet.org.uk
To: orthopod@mailbase.ac.uk <orthopod@mailbase.ac.uk>
Date: 04 June 1998 02:08
Subject: Goreham's Disease in 57 yr old drywaller

No idea what to advise you! I'm sure many of us are glad that this is your case & not ours


Further message from Myles Clough cloughs@wkpowerlink.com
Thu, 04 Jun 1998 09:39:08 -0700

I received the following messages
From: Rick Strain dirtmeister@msn.com

I did some research on Gorham's when I was at Mass General with Mankin.Al Shiller is the best pathologist on this or Andy Rosenberg. It is a VERY poor prognosis. We had a fellow with it in the cervical spine who had the first and only total neck prosthesis. He finally died. Good luck.
Rick Strain

From: David Klein klein@mail.bway.net

One of the the residents in my program treated a 40 yo woman with Gorham's who developed an ulnar nonunion and then fractured at the end of her plate following fixation for a midshaft ulna fracture. They got it to heal with a longer plate, autograft (illiac crest), and e-stim. At the time of diagnosis her radius was almost disappeared, with mild ulna involvement. I do NOT have long-term followup.

Some people have a monostotic or pauciostotic form of the disease that is self-limited, though it may be debilitating for that
extremity. Others have the progressive, polyostotic form. That's bad.

Histology shows the bone being replaced by multiple enlarging, thin-walled vascular channels, something like a haemangioma.

Good luck. I'm still puzzled about the "why me?" question...
\/\/\/\/\/\/\/\/\/\/\/\/\/\/\/\/\/\/\
David M. Klein, M.D.
SUNY-Downstate / Kings County Hospital
Dept. of Orthopaedics
Brooklyn, New York


Reply from Philip Chapman-Sheath philcs@compuserve.com
Thu, 4 Jun 1998 14:01:14 -0400

In response to the recent requests for info on this rare condition, I came across an interesting case whilst a resident at Great Ormond Street . Other forms of treatment that have been tried include Etoposide chemotherapy in addition to radiotherapy (up to 40 Gy) . The Etoposide is thought to induce cellular apoptosis(programmed cell death) in the osteoclasts causing osteolysis .
We tried this regime in a 13 yr old boy at Great Ormond Street , 2 yrs ago - it failed to slow the disease process , his was multifocal disease involving the lumbar spine/pelvis/&tibia . We later tried the bisphosphonate Alendronate after amputation of the then 'flail leg' ,but the condition proved fatal after 2 years .
I also found little in the literature & research is not extensive on the subject , a multi-disciplinary team at Great Ormond Street hospital was set up to investigate the biology involved in the disease as they have experience of 5 cases to date .If interested I have some information & can put you in contact .

Phil Chapman - Sheath
Specialist Registrar
Royal Berkshire Hospital , Reading , UK
e-mail : philcs@comuserve.com


Reply from Myles Clough cloughs@wkpowerlink.com
Sat, 06 Jun 1998 06:18:54 -0700

philip chapman-sheath wrote:
>
> In response to the recent requests for info on this rare condition, I came
> across an interesting case whilst a resident at Great Ormond Street . Other
> forms of treatment that have been tried include Etoposide chemotherapy in
> addition to radiotherapy (up to 40 Gy) . The Etoposide is thought to induce
> cellular apoptosis(programmed cell death) in the osteoclasts causing
> osteolysis .
My reading on the pathology suggests that the bone destruction is not accompanied by an increase in osteoclasts; rather the bone is invaded by a tissue similar to haemangioma. A paper in the Lancet Dec 1997 suggested the use of interferon which has been used in haemangioma. They achieved remission of a severe form of the disease (but used a diphosphonate as well so it's not clear which worked). I wondered whether the new drugs that attack angioneogenesis in cancers might have a place. Inhibiting angiogenesis in a healing fracture is not a very comforting thought!
> We tried this regime in a 13 yr old boy at Great Ormond Street , 2 yrs ago
> - it failed to slow the disease process , his was multifocal disease inv
> the lumbar spine/pelvis/&tibia . We later tried the bisphosphonate
> Alendronate after amputation of the then 'flail leg' ,but the condition
> proved fatal after 2 years .
As someone else wrote, there seem to be two forms of the condition, multifocal attacking children especially the spine and frequently fatal and monostotic. I guess I am going to have to break down and pay some money to NORD (National Association for Rare Diseases) http://www.pcnet.com/~orphan/  to see their database on the subject. It used to be available for free!
I would certainly appreciate receiving any further information from Great Ormond St. or anywhere else. I expect I will be seeing this patient for a long time
Snail mail address
Dr.J.F.M.Clough, Inc.,
303-321 Nicola St
Kamloops, BC, Canada V2C 6G6
fax 250-374-9232

Thank you
Myles Clough

Note: the above messages have been edited to correct spelling but have not otherwise been altered. The originals are posted on the Orthopod Mailbase site