A Case of Variegate Porphyria with Coeliac Disease and Beta-Thalassaemia minor

Sacco, Deborah; Parodi, Aurora; Cozzani, Emanuele; Biolcati, G.; Griso, D.; Rebora, Alfredo

doi:10.1159/000079606

Cited by 6 publications

(4 citation statements)

References 11 publications

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“…The patient also had beta-thalassaemia minor [7]. The current case represents another rare report of variegate porphyria in an individual with serology positive coeliac disease.…”

Section: Discussionmentioning

confidence: 95%

A Case of Variegate Porphyria in Association With Coeliac Disease and Bisphosphonate Associated Dental Osteonecrosis

Ogundipe

2009

J Clin Med Res

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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.KeywordsAbdominal pain; Abdominal bloating; Loose stools; Hyponatraemia; Variegate porphyria; Coeliac disease; Osteoporosis; Bisphosphonates; Osteonecrosis

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“…The patient also had beta-thalassaemia minor [7]. The current case represents another rare report of variegate porphyria in an individual with serology positive coeliac disease.…”

Section: Discussionmentioning

confidence: 95%

A Case of Variegate Porphyria in Association With Coeliac Disease and Bisphosphonate Associated Dental Osteonecrosis

Ogundipe

2009

J Clin Med Res

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“…In our case AIP occurred in a patient with preexisting celiac disease. A combination of celiac disease and acute intermittent porphyria has not been described before, only some rare findings of a combination of a celiac disease and a variegate porphyria are known, [ 7 , 8 ]. We believe that the catabolic state of the patient caused by her celiac disease has triggered the first attack of AIP.…”

Section: Discussionmentioning

confidence: 99%

Acute intermittent porphyria (AIP) in a patient with celiac disease

Nunnemann

Uibel

Budig

et al. 2020

Neurol. Res. Pract.

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We present the case of an 18 year old Caucasian with known celiac disease, who suffered a severe first attack of acute intermittent porphyria (AIP) with neuropsychiatric symptoms, severe tetraparesis and respiratory insufficiency. Treatment with heme arginate and high-dose intravenous glucose and rigorous rehabilitation resulted in a slow but almost complete recovery of her motor symptoms. To our knowledge this is the first case of acute intermittent porphyria triggered by malnutrition in the context of celiac disease. It is remarkable that the patient showed a favourable outcome despite the severity of her initial symptoms. This case shows the importance of early and systematic symptomatic treatment in patients with severe neurologic manifestation of AIP.

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“…Other hypothesized associations between skin disease and CD ( 7 , 8 , 23 ) include lupus erythematosus ( 68 ), dermatomyositis ( 69 ), Behçet disease ( 70 ), pemphigus ( 71 , 72 ), linear IgA bullous dermatosis ( 73 ), and lichen ( 74 , 75 ). Rarely, prurigo nodularis ( 76 ), cutaneous vasculitis ( 7 , 21 ), necrolytic migratory erythema ( 77 ), erythema nodosum ( 78 ), pityriasis lichenoides ( 79 ), porphyria ( 80 ), cutaneous amyloidosis ( 81 ), pityriasis rubra pilaris ( 82 ), erythroderma ( 83 ), partial lipodystrophy ( 84 ),generalized acquired cutis laxa ( 85 ), ichthyosis ( 86 ), atypical mole syndrome and congenital giant nevus ( 87 ) have also been described.…”

Section: Coeliac Diseasementioning

confidence: 99%

Skin gluten-related disorders: new and old cutaneous manifestations to be considered

et al. 2023

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The term gluten-related disorders (GRD) refer to a spectrum of different clinical manifestations triggered by the ingestion of gluten in genetically susceptible individuals, including coeliac disease (CD), wheat allergy and non-celiac gluten sensitivity (NCGS). GRD are characterized by a large variety of clinical presentations with both intestinal and extra-intestinal manifestations. The latter may affect almost every organ of the body, including the skin. Besides the well-known association between CD and dermatitis herpetiformis, considered as the cutaneous specific manifestation of CD, many other muco-cutaneous disorders have been associated to GRD. In this review, we analyzed the main features of dermatological diseases with a proven association with GRD and those that improve after a gluten-free diet, focusing on the newly described cutaneous manifestations associated with NCGS. Our main hypothesis is that a “cutaneous-gluten sensitivity,” as specific cutaneous manifestation of NCGS, may exist and could represent a diagnostic marker of NCGS.

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A Case of Variegate Porphyria with Coeliac Disease and Beta-Thalassaemia minor

Cited by 6 publications

References 11 publications

A Case of Variegate Porphyria in Association With Coeliac Disease and Bisphosphonate Associated Dental Osteonecrosis

A Case of Variegate Porphyria in Association With Coeliac Disease and Bisphosphonate Associated Dental Osteonecrosis

Acute intermittent porphyria (AIP) in a patient with celiac disease

Skin gluten-related disorders: new and old cutaneous manifestations to be considered

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