Fanconi anemia differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

Differentiating X from other Diseases

  • [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
  • [Disease name] must be differentiated from [differential dx1], [differential dx2], and [differential dx3].
  • As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].

Preferred Table

Diseases Clinical manifestations Para-clinical findings Gold standard Additional findings
Symptoms Physical examination
Lab Findings Imaging Histopathology
Symptom 1 Symptom 2 Symptom 3 Physical exam 1 Physical exam 2 Physical exam 3 Lab 1 Lab 2 Lab 3 Imaging 1 Imaging 2 Imaging 3
Fanconi Anemia Skin – Generalized hyperpigmentation; hypopigmented areas; large freckles, café-au-lait spots Short stature, delicate features, upper limbs absent or hypoplastic thumbs, supernumerary, bifid clinodactyly Head – Microcephaly or hydrocephaly; birdlike face, mid-face hypoplasia, Sprengel's deformity of neck,

Eyes- Microphthalmia, ptosis, epicanthal folds, strabismus

Cytopenia, Bone marrow failure Gastrointestinal anomalies – Atresias, imperforate anus, tracheoesophageal fistula, malrotation,

Kidney – Abnormal, ectopic, horseshoe, hypoplastic, or absent kidney; hydronephrosis

Cardiopulmonary anomalies – Congenital heart disease (patent ductus arteriosus, atrial or ventricular septal defects, coarctation, situs inversus) FA gene sequencing Incrreased chromosomal breakage in response to mitomycin C or diepoxybutane (quite sensitive but not entirely specific)
Acquired Aplastic Anemia recurrent infections due to neutropenia, mucosal hemorrhage or menorrhagia due to thrombocytopenia, or fatigue and cardiopulmonary findings associated with progressive anemia. infections including bacterial and fungal in cases of severe neutropenia especially pallor and petechiae. The liver, spleen, and lymph nodes are typically enlarged in AA, if its enlarged it may suggest alternative diagnosis. Serum chemistries, including electrolytes, liver function tests (including lactate dehydrogenase [LDH]), and renal function tests should be performed, Also serum B12 and Folate should be performed to exclude Bone marrow aspiration and Biopsy= hypocellular bone marrow in the absence of an abnormal infiltrate or marrow fibrosis. typically a more rapid onset and progression of cytopenias; and a response to immunosuppressive therapy
Paroxysmal nocturnal hemoglobinuria (PNH) Fatigue

●Dyspnea

●Hemoglobinuria

Abdominal pain

●Bone marrow suppression

●Erectile dysfunction

Chest pain

●Thrombosis

●Renal insufficiency

Anemia

●Increased reticulocyte count

●Increased lactate dehydrogenase (LDH) and bilirubin

●Decreased haptoglobin

●Free serum hemoglobin with pink/red serum

Bone Marrow: PNH usually have a normocellular or hypercellular bone marrow with erythroid hyperplasia. Stainable iron is often absent

hemolytic anemia (indirect hyperbiliribinemia)

 Intravascular hemolysis in PNH can lead to ARF and CRD.

●Hemoglobinuria with pink/red urine, positive dipstick for heme, and negative sediment for red blood cells

●Negative direct antiglobulin (Coombs) test (DAT)

●Hypocellular, normocellular or hypercellular bone marrow, often with erythroid hyperplasia; erythroid dysplasia is not uncommon

●Findings of iron deficiency may be seen in some patients due to excessive iron loss from hemoglobinuria and hemosiderinuria (eg, low iron, low ferritin, increased transferrin, absent bone marrow iron

FLAER: Flow cytometry detect (GPI) anchored proteins, which are reduced or absent on blood cells in PNH.

Acquired mutations in the PIGA gene result in the dominance of a hematopoietic progenitor cell clone lacking glycosylphosphatidylinositol (GPI) anchors

Other inherited bone marrow failure syndromes Transient pancytopenia and bone marrow hypoplasia may be caused by a number of exposures including medications, chemicals, certain viral infections, and sepsis or other severe bacterial infections. negative chromosomal breakage test.
Diseases Symptom 1 Symptom 2 Symptom 3 Physical exam 1 Physical exam 2 Physical exam 3 Lab 1 Lab 2 Lab 3 Imaging 1 Imaging 2 Imaging 3 Histopathology Gold standard Additional findings
Drug-induced or infection-associated pancytopenia
Rare chromosomal breakage syndromes, Nijmegen breakage syndrome (NBS), Bloom syndrome (BLM), ataxia telangiectasia (ATM), LIG4 syndrome (LIG4), NHEJ1 deficiency (NHEJ1), Seckel syndrome (ATR), and the cohesinopathies Roberts syndrome (ESCO2) and Warsaw breakage syndrome (DDX11). Like FA, these rare chromosomal instability syndromes are associated with multiple congenital anomalies, often including microcephaly, short stature, and increased risk of malignancy. Also like FA, t. compared to FA, these conditions show subtle differences in the associated congenital anomalies, the spectrum of associated malignancies, and the specific abnormalities seen within chromosomal breakage testing (eg, increased chromosome 7 and 14 abnormalities in NBS, railroading figures in cohesinopathies). these syndromes will often cause an abnormal chromosomal breakage tes patients with NBS do not typically exhibit bone marrow failure except in the setting of evolving malignancy.
De novo myelodysplastic syndrome (MDS) MDS can arise de novo or secondary to another bone marrow disorder; many patients with FA develop secondary MDS in child/young adults. de novo MDS can cause bone marrow failure variable cytopenias, multilineage dysplasia, cytogenetic abnormalities, and increased blasts

References

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