Alfa-1-antitrypsin deficiency panniculitis acquired after liver transplant and successfully treated with retransplant

Fernández‐Torres, Rosa; García-Silva, J.; Robles, Olga; Otero, Alejandra; Vázquez, María Ángeles Rodríguez; Fonseca, Eduardo

doi:10.1016/j.jaad.2008.10.012

Cited by 16 publications

(11 citation statements)

References 5 publications

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“…The second case was reported by Fernandez-Torre et al from the Hospital Juan Canalejo, La Coruña, Spain, in 2009 [72]. On the contrary, authors noticed alterations in "A 56-year-old MM patient [who] acquired a ZZ phenotype after a liver transplant for alcoholic liver cirrhosis.…”

Section: Resultsmentioning

confidence: 99%

Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema

Blanco

Lara

Serres

2011

Orphanet J Rare Dis

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Up to now alpha 1-antitrypsin (AAT) augmentation therapy has been approved only for commercial use in selected adults with severe AAT deficiency-related pulmonary emphysema (i.e. PI*ZZ genotypes as well as combinations of Z, rare and null alleles expressing AAT serum concentrations <11 μmol/L). However, the compassionate use of augmentation therapy in recent years has proven outstanding efficacy in small cohorts of patients suffering from uncommon AAT deficiency-related diseases other than pulmonary emphysema, such as fibromyalgia, systemic vasculitis, relapsing panniculitis and bronchial asthma. Moreover, a series of preclinical studies provide evidence of the efficacy of AAT augmentation therapy in several infectious diseases, diabetes mellitus and organ transplant rejection. These facts have generated an expanding number of medical applications and patents with claims for other indications of AAT besides pulmonary emphysema. The aim of the present study is to compile and analyze both clinical and histological features of the aforementioned published case studies and reports where AAT augmentation therapy was used for conditions other than pulmonary emphysema. Particularly, our research refers to ten case reports and two clinical trials on AAT augmentation therapy in patients with both AAT deficiency and, at least, one of the following diseases: fibromyalgia, vasculitis, panniculitis and bronchial asthma. In all the cases, AAT was successfully applied whereas previous maximal conventional therapies had failed. In conclusion, laboratory studies in animals and humans as well as larger clinical trials should be, thus, performed in order to determine both the strong clinical efficacy and security of AAT in the treatment of conditions other than pulmonary emphysema.

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Section: Resultsmentioning

confidence: 99%

Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema

Blanco

Lara

Serres

2011

Orphanet J Rare Dis

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“…73,76 Panniculitis responded to weekly infusions of AAT at 12 weeks, once AAT serum levels were raised to normal values of 1 g L À1 . Treatment with AAT was maintained indefinitely to prevent panniculitis recurrences and COPD progression F, female; M, male.…”

Section: Discussionmentioning

confidence: 99%

“…71 In Spain) reported a case of AATD panniculitis, acquired after an inadvertent transplantation of a liver from a ZZ donor, who was later treated with retransplant of a normal (MM) liver, which normalized the serum levels of AAT and gained control of the panniculitis. 76 In 2010 Lipsker et al (Strasbourg, France) reported a patient with difficult-to-treat neutrophilic panniculitis who had a spectacular response to a 15-day course of subcutaneous injections of the interleukin (IL)-1 antagonist anakinra. 77 Table 2).…”

Section: Panniculitismentioning

confidence: 99%

Neutrophilic panniculitis associated with alpha-1-antitrypsin deficiency: an update

et al. 2016

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Neutrophilic panniculitis associated with alpha-1-antitrypsin deficiency (AATD) is a very rare disease. Its estimated prevalence is 1 in 1000 subjects with severe AATD (usually white individuals with a Pi*ZZ genotype). It is manifested clinically by painful recurrent ulcerating subcutaneous nodules, and characterized histologically by dense infiltrates of neutrophils in the deep dermis and connective-tissue septae, with secondary lobular panniculitis. It may be the only clinical manifestation of AATD, although it can also occur together with the classical pulmonary or hepatic manifestations of the disease. AATD-associated panniculitis is not only very rare but may also be significantly underdiagnosed. The physician managing a case of panniculitis with a clinical presentation suggestive of AATD and a compatible skin biopsy should measure serum AAT concentration and, if low, determine the AAT phenotype by isoelectric focusing. If uncertainty remains, the SERPINA1 gene should be sequenced to identify the genotype. If AATD is diagnosed, AATD testing of first-degree family members should be performed in order to take appropriate preventive and therapeutic measures, including genetic counselling, education on inheritance, risk arising from tobacco smoke, occupational exposure to pollutants and hepatotoxic substances, and the provision of information on clinical management. Cases of panniculitis in which conventional therapy with dapsone has failed may be managed with intravenous augmentative therapy using human AAT. The current manuscript addresses the fundamental concepts of the pathogenesis of AATD-associated panniculitis and describes the clinical presentation and management of cases in order to reduce underdiagnosis and improve outcomes.

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“…They also appear to develop asymptomatic transaminase elevations by 1.5 years after LT. In 1 case, an affected patient progressed to cirrhosis and required retransplantation after 1.5 years . Again, although immediate complications appear to be infrequent, longterm consequences in these patients remain unknown.…”

Section: Alpha‐1‐antitrypsin Deficiencymentioning

confidence: 99%

“…However, both the donor and recipient developed severe hyperammonemia postoperatively, likely under the stress of LT. Urine samples from both demonstrated high levels of orotic acid confirming the diagnosis of OTCD. The recipient then deteriorated neurologically and Genetic cholestatic disorders GS (18)(19)(20) DJS (21) Thrombotic diseases AT deficiency (10) Protein C deficiency (11) Factor V Leiden (13,14) Protein S deficiency (15) ITP (132)(133)(134)(135)(136) Urea cycle disorders OTCD (4,5) Bleeding disorders Hemophilia A (123) Hemophilia B (124,125) Factor VII deficiency (122) Factor XI deficiency (126,(128)(129)(130) Food allergies (138,(140)(141)(142) Maple syrup urine disease (24,25,67,69) PH (29)(30)(31)(32)70) HH (6)(7)(8) CF (34) A1AT deficiency (35,36,79) PCLD (40)…”

Section: Urea Cycle Disordersmentioning

confidence: 99%

Genetic, hematological, and immunological disorders transmissible with liver transplantation

Tan¹,

Florman

Schiano

2017

Liver Transpl

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It is well recognized that solid organ transplantation can transmit bacterial infection and chronic viral hepatitis as well as certain cancers. As indications for liver transplantation (LT) have expanded, it has been used to treat and even cure certain genetic cholestatic disorders, urea cycle defects, and coagulation abnormalities; many of these conditions are potentially transmissible with LT as well. It is important for clinicians and transplant patients to be aware of these potentially transmissible conditions as unexplained post-LT complications can sometimes be related to donor transmission of disease and thus should prompt a thorough exploration of the donor allograft history. Herein, we will review the reported genetic, metabolic, hematologic, and immunological disorders that are transmissible with LT and describe clinical scenarios in which these cases have occurred, such as in inadvertent or recognized transplantation of a diseased organ, domino transplantation, and with living related liver donation. Liver Transplantation 23 663-678 2017 AASLD.

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Alfa-1-antitrypsin deficiency panniculitis acquired after liver transplant and successfully treated with retransplant

Cited by 16 publications

References 5 publications

Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema

Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema

Neutrophilic panniculitis associated with alpha-1-antitrypsin deficiency: an update

Genetic, hematological, and immunological disorders transmissible with liver transplantation

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