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.														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
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
De novo myelodysplastic syndrome (MDS)