Erythrocytosis - Causes and Symptoms

What Is Fanconi Anemia?: Symptoms, Diagnosis & Treatment

Fanconi anemia is a hereditary form of aplastic anemia, i.e. a clinical syndrome that is expressed by a picture of global hypoaplasia of the three main medullary proliferative chains (which produce white blood cells, erythrocytes and platelets). This results in peripheral pancytopenia (deficiency of all types of blood cells).Fanconi anemia manifests itself from childhood and has a progressive course.
From a genetic point of view, this form of aplastic anemia is heterogeneous: so far, 15 genes involved in its onset have been identified.

Fanconi anemia is usually transmitted as an autosomal recessive trait, although rare forms with X-linked transmission are known.

Fanconi anemia is characterized by hematological anomalies, pre- and post-natal growth retardation, variable congenital malformations (especially affecting the skeleton, skin, urogenital system and CNS) and tendency to develop hematological tumors (especially leukemia) or solids of the head and neck and of the genital system.At the skin level, there are often generalized hyperpigmentation or café-au-lait or discolored spots. Symptoms may also include eye (strabismus, microphthalmia, ptosis and nystagmus), ear (hearing loss) and skeletal (scoliosis, radial aplasia and congenital hip dysplasia) anomalies.

In a smaller percentage of cases, Fanconi anemia can lead to alterations of the urogenital system (renal aplasia, hypogonadism and menstrual irregularities), gastrointestinal malformations (esophageal atresia) and interventricular (VSD) and atrial septal (ASD) heart defects.

Other manifestations include microcephaly, learning disabilities, hydrocephalus, and neural tube defects. Fanconi anemia can also be associated with endocrinopathies, including glucose intolerance, hypothyroidism, reduced response to growth hormone (GH) and hyperinsulinism.

When congenital malformations are not evident, Fanconi anemia often remains silent until an acute infection or inflammatory disease occurs (generally at school age), which causes peripheral pancytopenia. With the resolution of the subsequent pathology, the peripheral values ​​return to normal, although the medullary cell mass is reduced.

The diagnosis is made starting from the clinical observation of any malformations and the finding of bone marrow failure and other haematological anomalies. Upon cytogenetic examination, the patients’ cells show evident chromosomal instability (presence of breaks and other alterations).

At the moment, the only curative treatment for Fanconi anemia is the transplant of bone marrow or hematopoietic stem cells from a compatible donor.

Symptoms and signs of Fanconi anemia

Fanconi anemia is characterized by the presence of various symptoms which may include:

Common symptoms of Fanconi anemia

Rarer symptoms of Fanconi anemia

This guide is in no way intended to replace the opinion of doctors or other healthcare professionals responsible for the correct interpretation of symptoms, to whom we refer to obtain a more precise indication of the origins of any symptom.

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