Presentation
AML is the initial presentation in approximately one third of patients. CASE PRESENTATION: A 17 year old male presented to the emergency room with history of high grade fever since two weeks. [ncbi.nlm.nih.gov]
Entire Body System
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Fatigue
For those children, the first sign is often fatigue. Because red blood cells deliver oxygen to every part of the body, when there aren't enough red blood cells to go around, tiredness sets in. [ucsfbenioffchildrens.org]
Complications of Fanconi anemia Fanconi anemia may lead to: Delayed growth or development Infection, especially pneumonia, chickenpox, and hepatitis Fatigue Digestive problems Certain cancers Death Diagnosis of Fanconi anemia Fanconi anemia usually is [stanfordchildrens.org]
Anemia The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't have enough red blood cells to carry oxygen to its various parts. [hoacny.com]
Complications of Fanconi anemia Fanconi anemia may lead to: Delayed growth or development Infection, especially pneumonia, chickenpox, and hepatitis Fatigue Digestive problems Certain cancers Death Diagnosis Diagnosis Diagnosis of Fanconi anemia Fanconi [childrensnational.org]
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Developmental Disabilities
About 60–75% of people have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. [en.wikipedia.org]
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Short Finger
[…] tubular, stiff, hyperextensible Radii - Absent or hypoplastic (only with abnormal thumbs [ie, terminal defects]), absent or weak pulse Hands - Clinodactyly, hypoplastic thenar eminence, 6 fingers, absent first metacarpal, enlarged abnormal fingers, short [emedicine.medscape.com]
Additional skeletal abnormalities include extra fingers (polydactyly); fifth fingers that are permanently curved toward the ring finger (clinodactyly); short fingers; absence of one of the bones of the hand (first metacarpal); and malformation of the [web.archive.org]
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Pseudotumor
Pseudotumor cerebri (PC) is a clinical syndrome characterized by increased intracranial pressure with a normal cerebrospinal fluid cell count and protein level in the absence of a space-occupying lesion or apparent obstruction to the cerebrospinal fluid [ncbi.nlm.nih.gov]
Hematological
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Easy Bruising
They may exhibit symptoms such as: Unexplained fatigue Recurrent colds or viral infections Recurrent nosebleeds Easy bruising Blood in the stool or urine Shortness of breath Poor growth / short stature In rare cases, symptoms do not occur until early [cincinnatichildrens.org]
Nosebleeds or easy bruising may be a first sign of the disease. Blood tests may reveal a low white cell, red cell or platelet count or other abnormalities. [fanconi.org]
Medical problems associated with pancytopenia include pale skin, easy bleeding/poor clotting, easy bruising, fatigue, weakness, and shortness of breath. All of these problems are common in FA. [forgottendiseases.org]
Early signs and symptoms may include the following: Extreme fatigue Shortness of breath Pale skin Feeling dizzy Headaches Chest pain Frequent infections Easy bruising Nosebleeds About 60 percent of children with Fanconi anemia are born with at least one [stjude.org]
Gastrointestinal
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Failure to Thrive
When Fanconi syndrome occurs because of cystinosis, failure to thrive and growth retardation are common. The retinas show patchy depigmentation. [merckmanuals.com]
[…] to thrive Learning disability Low birth weight Intellectual disability People with mild to moderate blood cell changes who do not need a transfusion may only need regular check-ups and blood count checks. [nlm.nih.gov]
The resulting lack of essential metabolites can cause dehydration, bone deformities, and a failure to thrive. There are treatments available that can slow or stop FS progression. FS is most often inherited. [healthline.com]
Among the more common birth defects are the following: Short stature Thumb, hand and arm anomalies Skeletal abnormalities of the hip and spine Kidney problems Skin discoloration Small head or eyes Low birth weight and failure to thrive Digestive tract [fanconicanada.org]
Ears
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Hearing Impairment
Less common abnormalities may also be associated with Fanconi anemia including abnormalities of the middle ears resulting in hearing impairment (conductive hearing loss). Some individuals may have abnormally low-set, malformed outer ears (pinnae). [web.archive.org]
Workup
Systemic workup revealed anemia and thrombocytopenia. A diepoxybutane chromosomal breakage test confirmed the diagnosis of Fanconi anemia. [ncbi.nlm.nih.gov]
(See Workup.) The advent of molecular diagnostics has further improved the specificity of Fanconi anemia diagnosis. Fanconi anemia accounts for approximately 25% of the cases of aplastic anemia seen at large referral centers. [emedicine.com]
Treatment
As matched sibling donor transplantation as preferred treatment is not available for the majority of patients, several synthetic androgens have been used as short-term treatment options for the marrow failure in FA patients for more than 50 years. [ncbi.nlm.nih.gov]
Management and treatment Supportive care includes transfusions of packed red blood cells (RBC) or leucodepleted platelets. The only curative treatment for hematologic manifestations is hematopoietic stem cell transplantation (HSCT). [orpha.net]
More information Fanconi Anemia Research Fund To find effective treatments and a cure for this disease, and to provide education and support services to affected families worldwide. [curlie.org]
Prognosis
A few reports also suggest that gains of 3q are associated with progression to MDS-AML and overall poor prognosis. [ncbi.nlm.nih.gov]
Prognosis BMF and malignancies lead to a poor prognosis with a reduced life expectancy, which has been improved by HSCT and androgen treatment. The documents contained in this web site are presented for information purposes only. [orpha.net]
Etiology
FA should be considered in the differential diagnosis of all young patients with BMF of unknown etiology. [orpha.net]
Although this condition may be acquired, it is considered a truly congenital defect in FA, and to identify the etiology of this association furthermore genetic mutation analysis is needed. [ncbi.nlm.nih.gov]
Epidemiology
Abstract Epidemiological studies have found a positive association between coffee consumption and a lower risk of cardiovascular disorders, some cancers, diabetes, Parkinson and Alzheimer disease. [ncbi.nlm.nih.gov]
Summary Epidemiology Recent determination of the carrier frequency gave an estimate of more than 1/200, with an expected prevalence at birth of at least 1/160,000. [orpha.net]
Contemporary estimates for Fanconi Anemia in the United States and Israel † ‡ Corresponding Author E-mail address: [email protected] Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes [doi.org]
Keywords: clinical (human) or epidemiologic studies: prevalence/incidence • anterior segment [iovs.arvojournals.org]
Pathophysiology
With an enhanced understanding of the intrinsic DNA-repair defect and pathophysiology of hematopoietic failure and leukemogenesis, sequential changes to conditioning and graft engineering have significantly improved the expectation of survival after allogeneic [ncbi.nlm.nih.gov]
Our model suggests a possible dual pathophysiology for FA that includes defects in DNA repair and in ribosome biogenesis. [pnas.org]
Shimamura A, Alter BP (2010) Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 24:101–122 PubMed PubMedCentral CrossRef Google Scholar 4. Alter BP (2003) Cancer in Fanconi anemia, 1927–2001. [link.springer.com]
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Fanconi anemia is an aplastic anemia that leads to bone marrow failure and myelodysplasia or acute myelogenous leukemia. [mayomedicallaboratories.com]
Despite these advances, the precise pathophysiology of the bone marrow failure in FA has remained elusive. A recent international study by Ceccaldi and colleagues6 now provides new insights into the pathogenesis of bone marrow failure in FA. [haematologica.org]
Prevention
Altogether, our data open perspectives in the prevention of adverse effects of chronic inflammation in tumorigenesis. Copyright 2016 The Authors. Published by Elsevier B.V. All rights reserved. [ncbi.nlm.nih.gov]