Post by kickingfrog on Nov 19, 2011 14:49:18 GMT
A Case of Variegate Porphyria in Association With Coeliac
Disease and Bisphosphonate Associated Dental Osteonecrosis
Olayinka A. Ogundipe
Department of Medicine of the Elderly, Royal Infirmary of Edinburgh, Edinburgh, EH16 4SA, United Kingdom.
Journal of Clinical Medicine Research, ISSN 1918-3003 print, 1918-3011 online
Article copyright, the authors; Journal compilation copyright, J Clin Med Res and Elmer PressTM
Journal website www.jocmr.org
Volume 1, Number 5, December 2009, Page 292-296
....
Abstract
This case describes an older patient with a rare diagnosis of variegate porphyria presenting with acute abdominal pains and bloating, intermittent loose stools and jaw pains following surgical repair of an osteoporotic hip fracture.
She was noted to have acute hyponatraemia. All the abdominal symptoms and the hyponatraemia were initially attributed to an acute episode of variegate porphyria with an accompanying syndrome of inappropriate antidiuretic hormone secretion.
However, following further evaluations necessitated by the incomplete resolution of the abdominal symptoms, it became apparent that some of the persisting symptoms were due to a concurrent and new presentation of serology positive coeliac disease.
The jaw pains were established to be due to dental osteonecrosis in association with the use of bisphosphonate therapy for treatment of osteoporosis.
The various symptoms and signs subsequently settled uneventfully following institution of appropriate management options for the various coexisting diagnoses.
.....
*******
.....Despite the initial clinical and biochemical improvements ...., she reported persistence of intermittent abdominal bloating and recurring bouts of loose stools. Multiple stool samples for routine microscopy, cultures and clostridium difficile toxin screens returned clear.
These persistent features, along with the presence of the dimorphic anaemia, informed the subsequent decision to screen her for coeliac disease.
Her IgA tissue transglutaminase antibody (tTG-IgA) levels returned markedly elevated at 125 AU (normal 0.1 - 7.9 AU). She received appropriate counselling towards undertaking an upper gastrointestinal endoscopy (UGIE), to allow for the (gold-standard) histological confirmation of the diagnosis of coeliac disease from distal duodenal biopsies.
However, she declined an UGIE citing physical frailty and all the recently endured medical hardships. Following further counselling she consented to an empirical trial of a gluten-free diet (GFD) on the clinical suspicion of possible serology positive coeliac disease.
The GFD was cautiously introduced under the close supervision of a dietician so as to avoid a sudden reduction to her calorie requirements and the risk of precipitating another episode of acute porphyria. Following establishment on the GFD diet for about three weeks and discontinuation of all fluid restrictions, the residual abdominal symptoms of bloating and loose stools resolved. The serum sodium and other relevant serum biochemistry remained normal. Of note however was a marked urinary sodium loss that persisted on a pre-discharge sample (urinary sodium 159 mmol/L).
She thereafter progressed well with a further period of multidisciplinary rehabilitation, regaining functional independence with her transfer abilities and with mobility supported with the use of a wheeled zimmer frame as a physical aid. Modified cutlery assisted her in overcoming the restrictions of rheumatoid arthritis to both hands. Minor assistance was required with washing and dressing, and she was discharged home with her family providing informal assistance with care.
Following discharge from hospital she has remained symptomatically well on the GFD, with repeat levels of her tTG-IGA levels showing reducing titres to 70.7 AU (four months following commencement of a GFD).
www.jocmr.org/index.php/JOCMR/article/viewArticle/204/134
********************************
Disease and Bisphosphonate Associated Dental Osteonecrosis
Olayinka A. Ogundipe
Department of Medicine of the Elderly, Royal Infirmary of Edinburgh, Edinburgh, EH16 4SA, United Kingdom.
Journal of Clinical Medicine Research, ISSN 1918-3003 print, 1918-3011 online
Article copyright, the authors; Journal compilation copyright, J Clin Med Res and Elmer PressTM
Journal website www.jocmr.org
Volume 1, Number 5, December 2009, Page 292-296
....
Abstract
This case describes an older patient with a rare diagnosis of variegate porphyria presenting with acute abdominal pains and bloating, intermittent loose stools and jaw pains following surgical repair of an osteoporotic hip fracture.
She was noted to have acute hyponatraemia. All the abdominal symptoms and the hyponatraemia were initially attributed to an acute episode of variegate porphyria with an accompanying syndrome of inappropriate antidiuretic hormone secretion.
However, following further evaluations necessitated by the incomplete resolution of the abdominal symptoms, it became apparent that some of the persisting symptoms were due to a concurrent and new presentation of serology positive coeliac disease.
The jaw pains were established to be due to dental osteonecrosis in association with the use of bisphosphonate therapy for treatment of osteoporosis.
The various symptoms and signs subsequently settled uneventfully following institution of appropriate management options for the various coexisting diagnoses.
.....
*******
.....Despite the initial clinical and biochemical improvements ...., she reported persistence of intermittent abdominal bloating and recurring bouts of loose stools. Multiple stool samples for routine microscopy, cultures and clostridium difficile toxin screens returned clear.
These persistent features, along with the presence of the dimorphic anaemia, informed the subsequent decision to screen her for coeliac disease.
Her IgA tissue transglutaminase antibody (tTG-IgA) levels returned markedly elevated at 125 AU (normal 0.1 - 7.9 AU). She received appropriate counselling towards undertaking an upper gastrointestinal endoscopy (UGIE), to allow for the (gold-standard) histological confirmation of the diagnosis of coeliac disease from distal duodenal biopsies.
However, she declined an UGIE citing physical frailty and all the recently endured medical hardships. Following further counselling she consented to an empirical trial of a gluten-free diet (GFD) on the clinical suspicion of possible serology positive coeliac disease.
The GFD was cautiously introduced under the close supervision of a dietician so as to avoid a sudden reduction to her calorie requirements and the risk of precipitating another episode of acute porphyria. Following establishment on the GFD diet for about three weeks and discontinuation of all fluid restrictions, the residual abdominal symptoms of bloating and loose stools resolved. The serum sodium and other relevant serum biochemistry remained normal. Of note however was a marked urinary sodium loss that persisted on a pre-discharge sample (urinary sodium 159 mmol/L).
She thereafter progressed well with a further period of multidisciplinary rehabilitation, regaining functional independence with her transfer abilities and with mobility supported with the use of a wheeled zimmer frame as a physical aid. Modified cutlery assisted her in overcoming the restrictions of rheumatoid arthritis to both hands. Minor assistance was required with washing and dressing, and she was discharged home with her family providing informal assistance with care.
Following discharge from hospital she has remained symptomatically well on the GFD, with repeat levels of her tTG-IGA levels showing reducing titres to 70.7 AU (four months following commencement of a GFD).
www.jocmr.org/index.php/JOCMR/article/viewArticle/204/134
********************************