Fanconi anemia differential diagnosis

Revision as of 19:03, 21 June 2018 by Amar Morani (talk | contribs)
Jump to navigation Jump to search

Fanconi anemia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fanconi anemia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fanconi anemia differential diagnosis On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fanconi anemia differential diagnosis

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fanconi anemia differential diagnosis

CDC on Fanconi anemia differential diagnosis

Fanconi anemia differential diagnosis in the news

Blogs on Fanconi anemia differential diagnosis

Directions to Hospitals Treating Fanconi anemia

Risk calculators and risk factors for Fanconi anemia differential diagnosis

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 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

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)

References

Template:WH Template:WS