Recent developments and advances in atopic dermatitis and food allergy

This review highlights recent advances in atopic dermatitis (AD) and food allergy (FA), particularly on molecular mechanisms and disease endotypes, recent developments in global strategies for the management of patients, pipeline for future treatments, primary and secondary prevention and psychosocial aspects. During the recent years, there has been major advances in personalized/precision medicine linked to better understanding of disease pathophysiology and precision treatment options of AD. A greater understanding of the molecular and cellular mechanisms of AD through substantial progress in epidemiology, genetics, skin immunology and psychological aspects resulted in advancements in the precision management of AD. However, the implementation of precision medicine in the management of AD still requires the validation of reliable biomarkers, which will provide more tailored management, starting from prevention strategies towards targeted therapies for more severe diseases. Cutaneous exposure to food via defective barriers is an important route of sensitization to food allergens. Studies on the role of the skin barrier genes demonstrated their association with the development of IgE-mediated FA, and suggest novel prevention and treatment strategies for type 2 diseases in general because of their link to barrier defects not only in AD and FA, but also in asthma, chronic rhinosinusitis, allergic rhinitis and inflammatory bowel disease. The development of more accurate diagnostic tools, biomarkers for early prediction, and innovative solutions require a better understanding of molecular mechanisms and the pathophysiology of FA. Based on these developments, this review provides an overview of novel developments and advances in AD and FA, which are reported particularly during the last two years.     

Épidémiologie de l’allergie alimentaire

The epidemiology of food allergy normally relies on surveys using questionnaire in general populations and studies on cohorts and through professionals in allergy clinics, sometimes completed by prick-tests, specific IgE assays and/or oral challenges. Complementary data are supplied by specialized medical networks. In European countries, the prevalence of food allergy in the pediatric population is about 4.7%, and in adults it is about 3.2%. Striking disparities characterize the response to questionnaires in EU countries. Life-threatening anaphylaxis occurs in 1/10,000 inhabitants, fatal anaphylaxis in 1/1 million inhabitants. A drastic increase of life-threatening and lethal anaphylaxis has been noted in the UK and Australia over the past ten years. In France, there has been an increase of 28% between 2001 and 2006. The Allergy Vigilance Network, which includes 400 allergists, reports that this increase has occurred in the pediatric population. The prevalence of food allergies depends on age and consuming habits. Milk, egg, peanut and tree-nuts are at the top of the list in children. Prunoïdeae, latex-group fruits, Apiaceae, wheat and tree-nuts are the most important food allergens in adults. Peanut and tree nuts are the main offending allergens in severe anaphylactic cases. Since 2002 the Allergy Vigilance Network in France and Belgium has been identifying newly-appearing dangerous allergens. Molluscs, lupine flour and cashew nuts are the most common on this list and labelling these foods is now compulsory. Goat and sheep milk proteins (14 cases), buckwheat (25 cases) and wheat isolates are not yet required to be labelled. The danger of anaphylaxis to goat and sheep proteins (two deaths out of 14 cases) is due to the likelihood of their being masked allergens, for which reason the EU Scientific Agency should be made aware of the necessity of required labelling of foods containing these substances.     

Changes in prevalence and characteristics of IgE-mediated food allergies in children referred to a tertiary care center in 2003 and 2008

Although epidemiological trends in peanut allergy have been determined, there are limited data for changes in prevalence and clinical characteristics for other common food allergens. This study was performed to determine the trends in prevalence and clinical characteristics of physician-diagnosed pediatric food allergy (FA) at a large urban-based tertiary care center from 2003 to 2008. The electronic medical record system was searched to identify all unique patients with FA as a diagnosis for 2003 and 2008. Included patients had either a definite clinical reaction on ingestion and (1) a positive specific IgE or skin-prick test or (2) food-specific IgE of >90% specificity. Patients with allergies to cow's milk, eggs, fish, peanuts, sesame, shellfish, soy, tree nuts, and wheat were included. The percentage of FA clinic patients increased from 3 to 8% over 5 years. The severity of initial reactions to food also increased from 2003 to 2008 (p < 0.05). Mean initial food-specific IgE decreased from 52 kU/L in 2003 to 40 kU/L in 2003 (p = 0.002). The age at diagnosis decreased from 2003 to 2008 for cow's milk (2.64-1.36 years; p < 0.05) and fish (5.10-2.86 years; p < 0.05) allergies. Peanuts and shellfish were associated with anaphylaxis and severe symptoms in 2008. Clinical characteristics of food-allergic reactions in this large tertiary care center worsened in severity over 5 years and reactions were associated with a lower specific IgE at presentation for peanut and shellfish allergy. Clinical presentation of FA may change over time and this phenomenon warrants study to determine contributory factors.     

Accidents graves par allergie alimentaire en France : fréquence,caractéristiques cliniques et étiologiques. Première enquête du Réseau dˈallergovigilance,avril–mai 2001

The first questionnaire of the ‘Allergy Vigilance Network’ concerns severe anaphylactic reactions that occurred during 1 month (April or May 2001). The first results obtained from 100 members of the Network (74 allergologists-GPs, 15 pediatricians-allergologists, eight lung specialists-allergologists and three dermatologists-allergologists) were collected. The analysis of these 100 answers reveals the occurrence of 163 severe reactions: laryngeal angioedema (51.5%), anaphylactic shock (39.9%), acute asthma (8.6%). These reactions concern 46.6% children under 15 years of age and 53.4% adults. The most frequent allergens are peanuts and nuts (27.6%), food cross-reacting with latex (11%), egg (8.6%), fish (6.7%), crustaceans (5.5%), milk (4.3%), sesame (4.3%), wheat (3.6%), legumes (3.6%), shellfish (3%), mustard (1.8%), celery (1.8%), and additives (carmine, alpha-amylase and sulfites: 1.8%). Severe reactions in France could be estimated between 15,000 and 30,000 per year. Acute asthma is less commonly reported, mainly by lung specialists, and is probably underestimated. The ability of nuts to induce severe allergic reactions is confirmed. This survey underlines the increased frequency of severe reactions to food cross-reacting with latex and to sesame. The frequency of food allergens could be influenced by the season; this enquiry will be renewed in January 2002.     

Food allergens submitted to compulsory food labelling in the 50 highest-selling drugs in France

Many active ingredients and excipients present in allopathic drugs derive from food allergens normally associated with compulsory food labelling. This study was undertaken to evaluate the presence of these components in the various pharmaceutical formulations of the 50 highest-selling drugs in French pharmacies in 2002 (in quantity and/or value), and to assess their labelling on the packaging of these drugs. The 174 pharmaceutical formulations of 86 drugs were studied and the composition of each one was identified using data-processing software. An excipient deriving from an allergen with obligatory labelling in food is present in 58.6% of the studied pharmaceutical formulations. Almost one third (32.2%) of these medications are correctly labelled since the excipients in question are already known to have adverse effects. This study demonstrates the actual presence of components derived from allergens with compulsory food labelling in the 50 highest-selling p maceutical products in France (in value and/or volume). Given the absence of clear labelling of food allergens in drugs, allergologists must inform both the medical and public communities of this potential risk. It is equally important that the pharmaceutical laboratories implement clear, informative labelling of food allergens, similar to that of the food industry.     

Meeting the nutritional needs of the low-birth-weight infant

Approximately 5% of young children and 3-4% of adults exhibit adverse immune responses to foods in westernized countries, with a tendency to increase. The pathophysiology of food allergy (FA) relies on immune reactions triggered by epitopes, i.e. small amino-acid sequences able to bind to antibodies or cells. Some food allergens share specific physicochemical characteristics that allow them to resist digestion, thus enhancing allergenicity. These allergens encounter specialized dendritic cell populations in the gut, which leads to T-cell priming. In case of IgE-mediated allergy, this process triggers the production of allergen-specific IgE by B cells. Tissue-resident reactive cells, including mast cells, then bind IgE, and allergic reactions are elicited when these cells, with adjacent IgE molecules bound to their surface, are re-exposed to allergen. Allergic reactions occurring in the absence of detectable IgE are labeled non-IgE mediated. The abrogation of oral tolerance which leads to FA is likely favored by genetic disposition and environmental factors (e.g. increased hygiene or enhanced allergenicity of some foods). For an accurate diagnosis, complete medical history, laboratory tests and, in most cases, an oral food challenge are needed. Noticeably, the detection of food-specific IgE (sensitization) does not necessarily indicate clinical allergy. Novel diagnostic methods currently under study focus on the immune responses to specific food proteins or epitopes of specific proteins. Food-induced allergic reactions represent a large array of symptoms involving the skin and gastrointestinal and respiratory systems. They can be attributed to IgE-mediated and non-IgE-mediated (cellular) mechanisms and thus differ in their nature, severity and outcome. Outcome also differs according to allergens.     

Specific IgE to Common Food Allergens in Children with Atopic Dermatitis

Background: Atopic dermatitis is a major public health problem, often starting in early childhood and sometimes followed by other allergic diseases. Although hypersensitivity to foods is assumed to play an essential role in the development of atopic dermatitis in some patients, little is known about common food allergens in Iranian children with atopic dermatitis. Objectives: This study was designed to identify probable food allergens in Iranian children with atopic dermatitis and find the relationship between food sensitization and the severity of atopic dermatitis. Methods: This study included 90 children aged 2-48 months with atopic dermatitis. Skin prick tests for cow's milk, hen's egg, almond, potato and soybean were done. Serum specific IgE to 20 food allergens was also screened. Results: Among children with atopic dermatitis, the frequency of food sensitization was 40% by skin prick test and 51% by food-specific IgE. Children with atopic dermatitis were most commonly sensitized to cow's milk (31%), hen's egg (17.7%), tree nuts (17.7%), wheat (12.2%), potato (11.1%), tomato (8.8%) and peanut (8.8%). In 42 children with moderate to severe eczema, sensitivity to food allergens was 78.5% by skin prick test and 88% by serum specific IgE evaluation. Conclusion: Our results showed that cow's milk, hen's egg and tree nuts were the most common food allergens in Iranian children with atopic dermatitis. Sensitization to foods was much higher in patients with moderate to severe atopic dermatitis. Determining specific IgE in children with atopic dermatitis can be helpful in managing these patients.     

Asthma Symptoms and Bronchial Reactivity in School Children Sensitized to Food Allergens in Infancy

Food allergy in infancy usually disappears but is followed primarily by respiratory allergy. We hypothesized that children allergic to common food allergens in infancy are at increased risk of wheezing illness and bronchial hyperresponsiveness during school age. In a case-control study 69 children 7.2 to 13.3 years of age allergic to egg (N = 60) and/or fish (N = 29) in early life (first 3 years) who attended our allergy outpatient clinic were recruited. They received follow-up for 1 year and were evaluated by parental questionnaire, skin prick testing, spirometry, and metacholine bronchial challenge. Another 154 children (70 sensitized to inhaled allergens) recruited selectively from a general population sample with no history of food allergy during their first 3 years served as control subjects. Twenty-three children (38.3%) maintained their sensitization to egg and 19 (65.5%) to fish; the prevalence of sensitization to ≥ 1 inhaled allergen(s) increased from 59.4% to 71% during childhood. Current asthma symptoms were reported more frequently in the study group than in either control groups, sensitized to inhaled allergens and non-sensitized. Children of the study group showed a significantly increased frequency of positive response to metacholine bronchial challenge compared to the control group as a whole; the difference was statistically indicative when study groups separately were compared to the sensitized control subjects. Multivariate logistic regression analysis showed that bronchial hyperresponsiveness, as well as reported current asthma symptoms were associated with early wheezing and early sensitization to inhaled allergens but not with atopic dermatitis in infancy or persistence of egg or fish allergy. Children allergic to egg or fish in infancy are at increased risk for wheezing illness and hyperactive airways in school age; asthma and bronchial hyperresponsiveness development is mostly determined by wheezing and senzitization to inhaled allergens in early life regardless of atopic dermatitis in infancy or retention of food allergy.     

Asthma and allergy: short texts and recommendations of the expert conference of the French Speaking Pneumology Society (SPLF), in partnership with the French Society of Allergology and Clinical Immunology (SFAIC), the French Society of Occupational Medicine (SFMT) and the "Asthma-Allergy" association

The Asthma Plan published by the French Health Ministry in 2002, the experts conferences edited by ANAES on therapeutic education and follow-up of asthma, the inclusion of this disease in the Public Health Law have been remarkable steps in France during the last few years. The medical community, more particularly the pneumological community, has shown its commitment in the treatment of this public health problem. But allergy was not sufficiently taken into account, although it is responsible for nearly 50 to 60% cases of asthma. In most so-called developed countries the prevalence of asthma and of allergies has increased in the last twenty years. Its progress varies according to country and age group: the increased prevalence of allergy, more specifically of rhinitis and eczema, is most marked in children aged 6-7 year. The prevalence of asthma seems to have reached a plateau in certain northern countries or seems to have decreased in 13-14 year olds (Anglo-Saxon countries). There were multiple reasons, generally attributed to changes in life-style. Asthma is the result of an interaction between a genetic predisposition and the environment, where allergens are present, but also smoking. The relationships between allergy and asthma are complex. This conference discussed the various essential issues that face doctors who treat patients with asthma in their daily practice. The risk factors, the methods of exploration in children and adults and the specific treatments are, indeed, essential issues to be evaluated in a frequent pathology that interests a large number of physicians. The variety of experts is wide, representing pneumology (French Speaking Pneumology Society), the occupational medicine world (FrenchSociety of Occupational Medicine), the allergic pathology (French Society of Allergology and Clinical Immunology), and patients with the patient association "Asthma & Allergy", physicians belonging to the general medicine community, general hospitals, private hospitals and academic hospitals in France.The proposed guidelines are aimed at helping practitioners in distinguishing what is established from what remains to be demonstrated and/or assessed with respect to the different modalities for the exploration or treatment of allergic asthma.     

Food allergy diagnosis

The diagnosis of food allergies (FA) relies upon the sequential use of different means and tools, according to a decision tree. Ten clinical characteristics point to a potential FA. A diary for food consumption during a week surveys all labellings, in order to detect masked food allergens. The second step is based on skin prick tests to natural foods, and epicutaneous tests to a few proteins (casein, gluten...). Biological tests using multi detection tests of specific IgEs to numerous allergens are not advised owing to the frequency of clinically not relevant in vitro cross-reactivity. Single determination of specific IgEs, have a 95% predictive positive value of high levels in cases of allergy to milk, egg, fish and peanut, and can spare oral challenges. The primary use of biological tests is not currently advised but may be of interest in litigious cases. Standardized oral challenges are the golden standard. Eviction regimens are an alternative used for cow's milk allergy in infancy, or for suspected digestive allergies in adults.     

Does atopic dermatitis cause food allergy? A systematic review

Background

Atopic dermatitis is the commonest chronic inflammatory disorder of the skin, affecting more than 20% of children in industrialised countries and up to 5% of adults. This condition is often associated with other atopic diseases, such as IgE-mediated food allergy (FA). Food allergen recognition via antigen-presenting cells in eczematous skin has been suggested to act as an important mediator of food sensitisation and FA. This would have important implications for prevention and treatment. We aimed to review the association between atopic dermatitis and FA; the effect of FA on atopic dermatitis severity, chronicity, and age of onset; and whether there was a temporal association between atopic dermatitis and FA.

Intake of trans fatty acids and low-density lipoprotein size in a Costa Rican population

Intervention studies show that dietary composition altered low-density lipoprotein (LDL) particle size, but population studies are scarce, and the potential effects of trans fatty acids (FA) on LDL size are unknown. Trans FA intake has been associated with a more atherogenic lipid profile and increased coronary heart disease (CHD). We examined the association between dietary intake, including trans FA and LDL size, in 414 randomly selected subjects living in Puriscal, Costa Rica. Dietary intake was assessed by a validated food frequency questionnaire (FFQ). Women had larger LDL size (A) compared with men (263 v 261), and large LDL particles were correlated with increased intake (% energy) of protein (P =.005), animal fat (P =.041), trans FA (P <.0001), and decreased intake of carbohydrate (P =.052) in sex-, age-, and total energy intake-adjusted models. The correlation between trans FA intake and large LDL was significant in multivariate models that included dietary and nondietary factors; a 1% difference in trans FA was associated with a 2.44 A increase in LDL size (P =.004). In sum, it is possible that the effects of dietary factors, such as intake of trans FA on CHD are mediated through their effects on LDL size.     

Histoire de l'allergie alimentaire : des précurseurs à l'histoire contemporaine

Food allergies are an important public health problem. Relatively unheard of during the 1970–1980 s, they had almost always been associated with the same allergens (cow milk, chicken eggs, and fish). Since then, they have become more frequent and more varied, involving about 4% of the general population of all ages; the prevalence may even be 5–6% or more among children. They are also becoming more and more severe, and interfering more in daily living. Beginning in the 1980 s, the story of food allergy has been marked by the explosion of the occurrence of peanut allergy, the prevalence of which has at least doubled over the past five years. Another important tendency has been an increase in the frequency of allergy to shelled fruits (e.g. exotic nuts) and to certain plant allergens (e.g. sesame, buckwheat and wheat). There has also been an increase in the number of near-fatal and fatal cases of food-related anaphylaxis, justifying the establishment of a monitoring network. The workup of food allergies has become more standardized, allowing a definitive diagnosis to be more easily established, thus justifying avoidance of the responsible substance. Indeed, until recently, in the absence of effective preventive measures and a good risk-benefit ratio, the prevention of food allergies depended on avoidance of the responsible food(s), which recommendation is nevertheless often not followed as prescribed. Other preventive measures (antihistamines, corticosteroids, adrenalin auto-injectors) are then adopted to avoid recurrences, which can be considered as evidence of treatment failure. Recent years have been marked by standardization of preventive measures based on the Project of Individual Care and by the establishment of educational protocols. The future may see the development of specific immunotherapy (until now, difficult and dangerous), modification of food allergens, and treatments that block IgE-dependant allergic reactions. For example, the preliminary results of a clinical trial of sublingual immunotherapy with hazelnut appear to be promising. Considering the difficulty of diagnosis and prevention, the social and psychological repercussions of food allergies are considerable for both children and their families.     

Mortality from primary liver cancer in Switzerland from 1975 to 1994

BACKGROUND/AIMS: The aim of the present study was to analyze the mortality from primary liver cancer in Switzerland over a 20 year period and compare our results with the mortality data from Germany, France, Italy and Austria. METHODS: Absolute and age-standardized mortality rates for primary liver cancer from 1975 to 1994 were obtained from the Swiss Federal Office of Statistics. The corresponding figures (1980-1994) for Germany, France, Italy and Austria were extracted from the World Health Organization mortality database. RESULTS: The average age standardized mortality rate from primary liver cancer in Swiss men increased by 33% over the last twenty years from 3.9 to 5.2/100,000 people, whereas it remained unchanged on a much lower level in women (around 1.1/100,000). A similar increase was observed in men from France (91%), Italy (44%) and Germany (52%), whereas in Austria (5%) the increase was much less pronounced. CONCLUSION: The rising mortality from primary liver cancer in Switzerland is restricted to Swiss men. The changes in Switzerland are very similar to those in France, Italy and Germany. The reason for this increase remains unknown, but could be related to an increase in HCV-related primary liver cancer. Population based studies analyzing the aetiology of the underlying liver disease associated with HCCs detected are required to address this issue.     

Food allergies

Opinion statement Food incompatibilities affect approximately 20% of the general population in Western countries. In about one quarter of the affected children and one tenth of affected adults, the incompatibility is based on an allergy, that is, on an immunologically generated incompatibility reaction. Gastrointestinal symptoms occur in a third of these cases. Food allergies are caused by IgE-dependent or Ige-independent immunologic reactions, which lead to an inflammatory reaction, in which mast cells, eosinophilic granulocytes, and other cells are involved. Both genetic and environmental causes are under consideration. New findings concerning the interaction between the innate immune system and intestinal microflora have generated innovative therapeutic concepts, including the use of probiotics to prevent food allergies. The development of recombinant allergens and varieties of allergens will improve diagnostic possibilities and bring new therapeutic options, such as hyposensitization and induction of immunologic tolerance. Food intolerances (nonimmunologic food incompatibilities often caused by specific enzyme deficiencies) must be diagnostically differentiated from food allergies.     

Food allergies

Food incompatibilities affect approximately 20% of the general population in Western countries. In about one quarter of the affected children and one tenth of affected adults, the incompatibility is based on an allergy, that is, on an immunologically generated incompatibility reaction. Gastrointestinal symptoms occur in a third of these cases. Food allergies are caused by IgE-dependent or IgE-independent immunologic reactions, which lead to an inflammatory reaction, in which mast cells, eosinophilic granulocytes, and other cells are involved. Both genetic and environmental causes are under consideration. New findings concerning the interaction between the innate immune system and intestinal microflora have generated innovative therapeutic concepts, including the use of probiotics to prevent food allergies. The development of recombinant allergens and varieties of allergens will improve diagnostic possibilities and bring new therapeutic options, such as hyposensitization and induction of immunologic tolerance. Food intolerances (non-immunologic food incompatibilities often caused by specific enzyme deficiencies) must be diagnostically differentiated from food allergies.     

Fanconi''s anaemia and pregnancy

We have identified six new cases of Fanconi's anaemia (FA) who had pregnancies, and reviewed 11 others from the literature. At least 110 FA females have reached 16 years of age or more, of whom 15% became pregnant. There were a total of 26 pregnancies, resulting in 19 births and 18 surviving children. Anaemia and/or thrombocytopenia worsened during pregnancy in 10 patients, but five subsequently improved: seven had no haematological problems. Seven of the FA patients who had pregnancies died subsequently from cancer, and two from thrombocytopenic bleeding 3 and 20 years later. There were no peripartum deaths. Pregnancy in FA is clearly possible, with increased risks that are manageable from both the haematological and the obstetric aspects.     

Discrepancies between the responses to skin prick test to food and respiratory antigens in two subtypes of patients with irritable bowel syndrome

AIM：To compare the response to skin prick tests （SPTs） to food antigens （FAs） and inhalant allergens （IAs） in patients with two subtypes of irritable bowel syndrome （IBS） and healthy controls.
METHODS：We compared the results of SPTs for IAs and FAs in 87 volunteers divided into three groups：diarrhea predominant IBS （D-IBS） GroupⅠ（n = 19）, constipation predominant IBS （C-IBS） Group Ⅱ （n = 17）, and normal controls Group Ⅲ （n = 51）.
RESULTS：Of the 285 tests （171 for FAs and 114 for IAs） performed in GroupⅠwe obtained 45 （26.3%） positive responses for FA and 23 （20.1%） for IA. Of the 153 tests for FA in Group Ⅱ, we obtained 66 （20.1%） positive responses, and of the 102 tests for IA, we obtained 20 （19.6%） positive responses. Of the 459 tests for FA performed in Group Ⅲ, we obtained 39 （84%） positive responses, and of the 306 for IA, we obtained 52 （16.9%） positive responses. The numbers of positive responses were not significantly different between the three groups, but in the D-IBS group, the number of SPTFA responses differed significantly from those for the other two groups （P 〈 0.01）.
CONCLUSION：Despite the small number of cases studied, the higher reactivity to FAs in GroupⅠcompared to Groups Ⅱ and Ⅲ adds new information, and suggests the presence of a possible alteration in intestinal epithelial function.     

Acute alcoholic intoxication in subjects over 75 years of age: a clinical situation far to be uncommon

Acute ethylic intoxication (AEI) or alcoholic drunkenness is not only a youth-specific disorder. It also occurs at advanced ages of life. Diagnosis is not easy, at times made in excess, but more often underestimated, then leading to the negligence of a risk situation and suffering. AEI represents about 3% of all hospitalizations. In 2005, 973 alcohol tests taken at the hospital of Macon (France) were positive. The rates ranged from 0.10 g/L to 6.26 g/L (m = 2.06 +/- 1,18). 41 subjects were aged over 75 (5%). The alcohol rates found were lower after 75 years (1.34 +/- 1.1 g/L) than before 75 years (2.11 +/- 2,1; p<0,001). Subjects were referred to the Emergency unit for a fall in 61% of the cases, and dizziness in 34%. Among the aged subjects, 30% received external care and 70% were hospitalized. According to the DSM-IV, misuse of alcohol was found in 87% of subjects (abuse in 67%, addiction in 20%) and temperance in 13%. Drinking alcohol is not a pathology in itself. However, if it causes suffering or has negative consequences on health or lifestyle, care is required. Aging doesn't change anything to this reality. AEI, in truth, requires even more specific care and attention, in the elders.     

Phenotypes of adults with Fanconi anaemia

The long-term outcomes of adults with Fanconi anaemia (FA) have improved with advances in haematopoietic stem cell transplantation (HSCT) and more detailed follow-up and screening guidelines. The phenotype of those who survive to adulthood may differ from the typical presentation of FA. We collected retrospective clinical data on adults with FA who received their care at the Cincinnati Children's Hospital Medical Center. In our final cohort of 52 patients, there were 29 females and 23 males, with median (range) age of 21 (18–37) years. Overall, 42 patients (81%) were alive at last follow-up. In all, 36 adults (69%) had undergone HSCT, including eight who had developed myelodysplasia or acute myeloid leukaemia. Eight (15%) developed squamous cell carcinoma. Endocrine complications were common, including hypothyroidism (42%), diabetes (10%), low body mass index (31%) and low bone mineral density (51%). The majority of adults with FA were employed (52%) or full-time students (13%). A significant subset of patients with FA are surviving into adulthood without requiring HSCT. Endocrine abnormalities and the development of solid tumours complicate adulthood. With improved survival outcomes following HSCT and more aggressive malignancy screening protocols, ongoing longitudinal analysis will be important to further characterise this cohort and the phenotype of untransplanted adults with FA.