Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema

Bautista-Llácer, Rosa; Alberola, Trinitat M.; Vendrell, Xavier; Fernández, Esther; Pérez-Alonso, Manuel

doi:10.1016/j.rbmo.2010.05.016

Cited by 17 publications

(16 citation statements)

References 20 publications

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“…Preimplantation diagnosis and implantation of unaffected fetuses is under consideration in some jurisdictions. No mutation can be detected in the C1‐INH ( SERPING1 ) gene in 8–10% of C1‐INH‐HAE 64, 65, 66, 67.…”

Section: Resultsmentioning

confidence: 99%

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Farkas

Martinez‐Saguer²,

Bork

et al. 2016

Allergy

177

308

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BackgroundThe consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1‐INH‐HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric patients. We intended to produce consensus recommendations for the diagnosis and management of pediatric patients with C1‐INH‐HAE.MethodsDuring an expert panel meeting that took place during the 9th C1 Inhibitor Deficiency Workshop in Budapest, 2015 (www.haenet.hu), pediatric data were presented and discussed and a consensus was developed by voting.ResultsThe symptoms of C1‐INH‐HAE often present in childhood. Differential diagnosis can be difficult as abdominal pain is common in pediatric C1‐INH‐HAE, but also commonly occurs in the general pediatric population. The early onset of symptoms may predict a more severe subsequent course of the disease. Before the age of 1 year, C1‐INH levels may be lower than in adults; therefore, it is advisable to confirm the diagnosis after the age of one year. All neonates/infants with an affected C1‐INH‐HAE family member should be screened for C1‐INH deficiency. Pediatric patients should always carry a C1‐INH‐HAE information card and medicine for emergency use. The regulatory approval status of the drugs for prophylaxis and for acute treatment is different in each country. Plasma‐derived C1‐INH, recombinant C1‐INH, and ecallantide are the only agents licensed for the acute treatment of pediatric patients. Clinical trials are underway with additional drugs. It is recommended to follow up patients in an HAE comprehensive care center.ConclusionsThe pediatric‐focused international consensus for the diagnosis and management of C1‐INH‐HAE patients was created.

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Section: Resultsmentioning

confidence: 99%

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Farkas

Martinez‐Saguer²,

Bork

et al. 2016

Allergy

177

308

View full text Add to dashboard Cite

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“…Another future concern is to prevent the development of HAE with prenatal genetic diagnosis before implantation occurs [78]. Although it seems to be reasonable, the strategy has some limitations.…”

Section: Future Promising Interventionsmentioning

confidence: 99%

“…Furthermore, because of the hormonal stimulation during in vitro fertilization, it can possibly lead to angioedema atacks. Lastly, there is a risk of having mild inluenced ofspring [78]. Therefore, patients need intensive genetic counseling before such a therapy.…”

Section: Future Promising Interventionsmentioning

confidence: 99%

Hereditary Angioedema

Gelincik¹,

Demir²

2017

A Comprehensive Review of Urticaria and Angioedema

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Hereditary angioedema (HAE) is an autosomal dominantly inherited orphan disease manifested by recurrent unpredictable nonpiting and nonpruritic swelling atacks without urticarial plaques. HAE is caused by a deiciency of the C1 esterase inhibitor (C1-inh) or decreased function of C1-inh. Type 1 HAE, the most common form, occurs due to C1-inh deiciency and is seen with low-serum C1-inh levels. In type 2 HAE, the function of C1-inh is impaired, and in HAE with normal C1-inh serum levels, the function of C1-inh is normal. HAE episodes can afect various sites in the body such as the larynx, face, extremities, gastrointestinal tract, and urogenital area. Acute episodes can be treated with C1-inh concentrates, a kallikrein inhibitor, called ecallantide and bradykinin B2 receptor antagonist, icatibant. Depending on the frequency, severity, and location of the episodes, long-term prophylaxis regimens with plasma-derived C1-inh concentrates, antiibrinolytics, or 17α-alkylated androgens can be used. C1-inh concentrates or 17α-alkylated androgens should be administered before dental procedures and minor or major surgical interventions to provide short-term prophylaxis. In conclusion, HAE is a rare life-threatening disease of which clinical presentation is highly variable and early accurate diagnosis signiicantly prevents mortality and morbidity.

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“…In the last decade, genetic testing, including preimplantation diagnosis, is already available, although not routinely performed in most centers. Some authors recommend these studies in infants where protein analysis can be unreliable due to age-specific variability in C1-INH plasma concentration [119].…”

Section: Landmarks In the Genetics Of C1-inhmentioning

confidence: 99%

The Story of Angioedema: from Quincke to Bradykinin

Reshef

Kidon

Leibovich

2016

Clinic Rev Allerg Immunol

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The term "swelling" has been used in the old scriptures to illustrate a change of normal figure and, as such, an expression of illness. It should be noted that in ancient times, human diseases were very often regarded a punishment from God. Hence, it is not surprising that one of the oldest tests for infidelity involved swelling as an inflicted punishment. The great Greek physician Hippocrates (377-460 BC), considered one of the most outstanding figures in the history of medicine and "Father of the Western Medicine," already used the term oídēma to describe swelling of organs. It took many centuries later until the first description of angioedema as a distinct medical entity was minted by Quinke in 1882. The historical progression in angioedema research has been characterized by intermittent "leaps" in interest and scientific achievements. As an example, it took 75 years from the accurate description of hereditary angioedema (HAE) by Osler (1888), until a group of researchers headed by Donaldson (1963) disclosed the central role of C1 inhibitor in angioedema pathophysiology. What followed was a result of a collective effort by many researchers and scientific groups who were able to elucidate the intricate connections between the implicated biochemical pathways. Still, scientific progress was hardly translated into effective therapy, and another 45 years had to elapse until the renewed interest in HAE was boosted by studies on the efficacy and safety of novel therapies about 10 years ago. In the twenty-first century, HAE ceased to be an "orphan disease" and its future is far more optimistic. It is better managed now by specialized angioedema centers, harmonized clinical guidelines, educational programs, laboratory services, and continued basic and clinical research. Patient associations worldwide are offering support and guidance, and governments and healthcare systems are gradually addressing patient and family needs.

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Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema

Cited by 17 publications

References 20 publications

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Hereditary Angioedema

The Story of Angioedema: from Quincke to Bradykinin

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