Learning objectives
1.
Knowledge the clinical presentation of haemophilia in paediatric patients and their potential complications,
as well as,
their imaging findings.
2.
Emphasize the importance of the radiologist in the diagnosis process,
treatment and prognosis of these patients.
Background
Haemophilia is a congenital coagulopathy,
recessive inheritance X-linked (although up to a third of patients have sporadic haemophilia by a spontaneous mutation),
deficiency in clotting factors VIII,
IX and XI (haemophilia A,
B and C, respectively),
which manifests clinically in males (Fig. 1)
Are calculated up to 400,000 people affected by haemophilia in the world,
with an incidence in Spain than 1 in 15,000 births.
Haemophilia A occurs in about 1 in 10,000 males (85% of haemophilia) and B in 1 in 100,000,
with no...
Imaging findings OR Procedure details
Plain radiographs diagnosed late bone changes.
In the first stage may be soft tissue oedema.
Then we see hypertrophy of epiphyseal osteoporosis with preserving the integrity of the joint.
Later we find subchondral cysts.
In a subsequent step of cartilage destruction is already necked accompanied articular bone abnormalities.
Finally we find joint space loss and disorganization of structure with bone abnormalities and cartilage.
Ultrasound is the initial imaging method for studying joint,
abdominal and brain haemorrhage,
in patients with open fontanelle.
The U.S.
has advantages...
Conclusion
• The role of the radiologist is essential in the diagnosis of complications of haemophilia in paediatric patients because of its implications for treatment and prognosis.
• It is essential to know the best techniques for diagnosis and imaging findings of this group of diseases.
References
1. REVIEW ARTICLE Musculoskeletal Complications of Hemophilia
E.
Carlos Rodríguez-Merchán,
MD,
PhD E.
Carlos Rodriguez-Merchan,
MD,
PhD,
Hospital for Special Surgery 2009.
2.
Images in musculoskeletal complications of hemophilia,
Ray F Kilcoyne,
MD,
† Former Professor Emeritus,
Department of Radiology,
University of Colorado Health Sciences Center Autor: Ray F Kilcoyne,
† Ex MD Professor Emeritus,
Department of Radiology,
University of Colorado,
Center for Health Sciences,
Contributor Information and Disclosures.
3. Soler R,
López Fernández F,
Rodríguez E,
Marino M.
Hemophilic arthropathy.
A scoring system for...