A Anemia de Fanconi (AF) é unha doenza xenética que afecta a nenos e adultos de e leucemias, insuficiencia da medula ósea progresiva (anemia aplásica). Keywords: Fanconi anemia, Body composition, Hematopoietic stem cell .. Medeiros L.A., Pasquini R. Anemia aplásica adquirida e anemia de. PDF | A Anemia de Fanconi é uma desordem genética recessiva e rara Anemia aplásica pela falência progressiva da medula óssea.
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Fanconi Anemia is a recessive and rare genetic disorder, characterized by chromosomal instability that induces congenital alterations in individuals.
Aplastic anemia due to the progressive failure of the bone marrow, malignant neoplasias such as acute myeloid leukemia, liver tumors and squamous cell carcinoma are some of the possible evolutions of Fanconi Anemia.
Some of these diseases develop mainly after bone marrow transplantation. The aim of this critical review of the literature was to discourse about the main oral manifestations and their involvement in the health of individuals who are ill with Fanconi Anemia.
The clinical oral findings described in the literature include periodontal changes, such as gingivitis and aggressive periodontitis, recurrent aphthous ulcers and traumatic lesions.
Anemia de Fanconi – Wikipedia, a enciclopedia libre
Papillary atrophy, macroglossia, znemia pigmentation and squamous cell carcinoma are the most common oral manifestations on the tongue. An increased risk for the development of malignant neoplasias in individuals with Fanconi Anemia has been reported, and this is progressive after bone marrow transplantation. In radiographs, dental anomalies such as the presence of supernumerary aplawica, tooth agenesis, tooth rotation and transposition of teeth are observed.
Salivary flow and some salivary components are also altered. Due to the increased susceptibility to the development of cancer in this specific population, it is important for the dentist to know the common oral manifestations and potentially cancerous lesions, in order to make an early diagnosis in individuals with Fanconi Anemia. Fanconi Anemia FA is a recessive genetic disorder, in which individuals present congenital alterations associated with consanguinity.
It was described for the first time by Fanconi inin a case report of three brothers with a condition of progressive anemia, pancytopenia, physical anomalies and hyperpigmentation of the skin 1.
This disease is characterized by the malfunctioning of the DNA repair mechanism, which present an increase in the rate of spontaneous damage, among these spontaneous chromosomal instability, and hypersensitivity of cells to the chromosomal breaking effect induced by clastogenic agents 2 – 3. In addition, there may be progressive pancytopenia, anemia, thrombocytopenia, leukopenia, macrocytosis and fetal erythropoiesis.
The mean age for diagnosis is 7 years, and the life expectancy is 25 years, and may attain between years of age 3. Studies on the frequency of FA in the world are scarce. Recent studies have demonstrated a mean frequency of 1: The estimate in was to individuals with FA living in the United States, and that 31 children per year are born with Fanconi Anemia, in this country 6. In Brazil, there are no studies that demonstrate the prevalence of frequency of Fanconi Anemia.
The study of the most prevalent oral manifestations in individuals with Fanconi Anemia is extremely important so that the dentist may make a correct early diagnosis and treatment of these alterations. In the literature, there are few reports of oral manifestations in individuals with Fanconi Anemia.
The main manifestations related in individuals with Fanconi Anemia are represented as follows. With a view to providing multidisciplinary care, prevention of oral alterations and development of squamous cell carcinoma, the aim of this review is to discourse about the main oral manifestations and their involvement in the health of patients with FA.
The evolution of Fanconi Anemia may include aplastic anemia by the progressive failure of the fancoin marrow, malignant neoplasias, such as acute myeloid leukemia AMLliver tumors and squamous cell carcinoma SCCwhich commonly affect the oral region, oropharynx and anogenital region 31 – The goal of Fanconi Anemia treatment is to increase the survival of individuals, and establish a better quality faanconi life.
The aim is to control physical alterations bifid thumbs, absence of radial bone, congenital dysplasia of the hip, scoliosis and syndactylyre-establish the hematological condition medullary aplasia and treat the malignant alterations that develop in this population In the treatment of medullary aplasia, the most severe adverse event in these individuals, this may be aplazica by means of Androgen replacement therapy ARTsynthetic growth factors, fanclni marrow transplant BMT and gene therapy 9.
Bone marrow transplantation is a good treatment alternative for the correction of hematological alterations in Fanconi Anemia Bone marrow transplantation eliminates the initial risk of death from hematopoietic insufficiency.
On the other hand, it increases the risk for the development of neoplasias, as the transplanted stem cells do not eliminate the risk of residual leukemia, since some of the host cells with Fanconi Anemia may persist and maintain the risk of malignant transformation During BMT, individuals with Fanconi Anemia undergo therapy with immunosuppressant medication and total body irradiation.
These procedures associated with myelosuppression and complications arising from post-BMT, such as graft-versus-host disease GVHD and infections, are factors that significantly elevate the risk for development of neoplasias, mainly squamous cell carcinoma in the region of the head and neck 4 Systemic alterations such as high susceptibility for the development of neoplasias associated with altered aplassica, endocrine and renal functions will reflect directly on the oral condition in patients with AF, which we shall describe as follows.
Gingivitis and periodontitis are the most cited oral manifestations in individuals with AF Gingival bleeding and hyperemia are remarkable findings in patients with AF Figure 1.
Poor oral hygiene is added to the systemic condition that xe it an aggravating agent of gingivitis and periodontitis in these individuals 79. Main manifestations related in individuals with Fanconi anemia and authors. Gingivitis in a child with Fanconi Anemia after hematopoietic stem cell transplant. It is important to remember that fanvoni is the etiologic agent of gingivitis and gingival bleeding is one of the main clinical signs of this inflammation.
Apkasica, thrombocytopenia acts as a modifying agent of the systemic condition, and we suggest that this exacerbates gingival bleeding in these individuals.
Another common hematological alteration in individuals with FA is chronic anemia, of which the main oral clinical characteristics are pallor of the mucosa and gingiva However, this same study demonstrated that The aggressive periodontitis prevalent in youngsters, has also been described in individuals with AF 11 – Accentuated horizontal loss of alveolar bone results from precarious oral hygiene, associated with leukocytic deficiency and the presence of microorganisms.
Furthermore, individuals aplwsica FA who received BMT, presented a deficiency in immune response, due to the use of immunosuppressant medications, increasing their susceptibility to periodontal infection, particularly aggressive periodontitis.
However, Yalman et al. For these authors, this is due to the greater attention paid to dental care in these individuals, particularly after BMT. There are few reports in the literature, about the prevalence of caries in this population. Fancoi, the oral microbiota of these individuals does not appear to present alteration in comparison with individuals without hematological complications.
Caries is associated with the accumulation of biofilm and precarious oral hygiene 10 This may be explained by the health care being focused on systemic alterations and not on the oral condition, such as control of diet and oral hygiene. The continuous and daily consumption of sucrose, presence of specific cariogenic microbiota, low socio-economic condition and reduced access to dental care are relevant factors for the development of caries, a multifactorial disease The use of fluoride may be of great help in the control of dental caries In radiographic studies, diverse dental anomalies have been observed in this population.
With regard to number, agenesia and supernumerary teeth are the most common anomalies.
Body composition of Fanconi anemia patients after hematopoietic stem cell transplantation
The tooth with the highest prevalence of agenesia is the maxillary central incisor. With respect to position, rotation of permanent teeth and tooth transposition are the most reported anomalies The permanent canine is the tooth with the highest prevalence of transposition 7.
Curved, tapered roots with apical dilacerations, enamel pearl, taurodontia, microdontia, and enamel hypoplasia are the alterations in shape, dimension and dental structure described in these patients Alterations in calcium metabolism during odontogenesis related to Vitamin D resistant rickets, explain some of the dental alterations in individuals with FA, such as agenesia and presence of supernumerary teeth Discrepancy between dental, chronological and bone age in individuals with FA is relevant, since the dental and bone age are lower than the chronological age Furthermore, it is common for these patients to present low stature, growth hormone deficiency and hypothyroidism.
This may occur due to hypoactivity of the hypothalamus causing insufficiency of growth hormone, resistance to its action and hypothyroidism Reduction in salivary flow hyposalivation is an important oral manifestation in individuals with FA 7 This occurs both in patients submitted to BMT, and in those who did not undergo transplantation 8. However, there is not report of dry mouth sensation xerostomia or apparent clinical sign.
This diminished salivary flow may be justified by the pathogenesis of FA, related to endocrine alterations and or those of the central nervous system and due to the use of drugs, particularly on the central action Alterations in urea and calcium concentrations in saliva have also been reported in individuals with FA, while amylase and total proteins have shown no alteration Changes in salivary flow may lead to increase in the prevalence of caries, and increased predisposition to development of infections, however, this is not an isolated factor 7 In spite of these individuals presenting a low level of salivary flow, and high indices of urea and calcium in saliva being expected, these present reduced values when compared with individuals without systemic alterations This may be justified by dysfunction in calcium and urea absorption by the body.
This applies to calcium by the gastrointestinal atresia, and urea by the renal and hepatic alterations Recurrent aphthous ulcers are the most common lesions in soft tissues in individuals with FA As they present a painful symptomatology, these lesions are responsible for the increase in the frequency of these patients visiting the dental office Figure 2.
Recurrent ulcer in an individual with Fanconi Anemia. Another justification found is leukocytic deficiency, reducing the immunity of these individuals, leading to greater facility for the development of these ulcerated lesions.
Traumatic non ulcerated lesions and petechiae are common in these individuals, and are normally related to low platelet counts There are many alterations in the tongue of individuals with FA. The most frequently described are: The alveolar ridge, retromolar trigone region, floor of the mouth, oral mucosa and gingivae are the areas of the major establishment of squamous cell carcinoma 20 – Squamous cell carcinoma occurs with greater frequency in the region of the head and neck, particularly after bone marrow transplantation 17 – 18with the tongue being the site of preference.
In general, the age for the development of neoplasias in patients with FA is significantly lower than the age at which these same alterations manifest themselves in the population in general In the head and neck region, the mean age for the appearance of tumors in the general population is around 45 years, while in individuals with FA, the age is 32 years Reports of SCC in children 18 – 24adolescents 1626 – 27and young adult 17 – 28individuals with FA suggest genetic alterations in these individuals as the etiological factor of SCC of the tongue.
All these factors together elevate the risk for the development of SCC by 4. Not only does BMT act as an important predisposing factor, but external factors such as solar irradiation, smoking, alcoholism and human papillomavirus HPV confer an even greater risk for the development of malignant neoplasias 16 The treatment for SCC of the tongue is radical surgical removal of the tumor, associated with either radiotherapy and chemotherapy, or not.
This occurs due to the low tolerance of individuals with FA to chemotherapy and radiotherapy, due to the defective DNA repair mechanism Moreover, this tumor is particularly aggressive and has a high rate of recurrence. The survival rate on an average, is 6 months after diagnosis Knowledge of the oral manifestations and their treatment is of extreme relevance for the attention to and health care of individual with FA.
It is notable that patients with FA develop the same manifestations as those who do not present the disease.
However, due to the hematological and endocrinal conditions, and mainly the chromosomal instability involved in this disease, these patients need differentiated care. Periodontal disease, caries lesions and soft tissue, as well as dental alterations such as agenesias and supernumerary teeth, are the most common oral manifestations in this population.
The dentist, as a member of the multidisciplinary team that follows-up these patients, must know about the diverse aspects involved in its physiopathology and its repercussion on the mouth.
Monitoring the conditions and lesions with the potential to become cancerous, and their early diagnosis appears to be the best prognostic factor in individuals with FA, with regard to SCC.
Careful examination of the mucosal tissues must regularly be performed, also in young individuals. Early diagnosis and prospective evaluation of patients may contribute to a better analysis of the development of SCC.
Routine dental exams guarantee the patient’s motivation for re-establishment and maintenance of periodontal health, reduction in the incidence of caries and monitoring the oral health of these individuals.