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Case Report: Hemophilia and musculoskeletal manifestations

Written by RheuMD on . Posted in Case Reports

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A 20-year-old male patient presented with acute pain in the right inguinal fold after exercising, moderate in intensity that radiates the inner surface of the thigh, accompanied by hip pain and paresthesia. He has a history of:

  • hemophilia A with severe deficiency of factor VIII (0.7%) diagnosed in childhood;
  • conducting secondary prevention with 13,000 IU / month reduced before six months of 3000 IU / month;
  • recurrent mechanical pain in the knee, ankle, hips.

Examination showed:

  • Signs of accelerated osteoarthritis in all the observed joints, esp. hip and knee joints
  • Limited mobility with pain in active flexion (> 90 °) in the right hip joint
  • Sensitivity changes in the area innervated by right femoral nerve 
  • Pseudotumor 

Hemophilia and musculoskeletal manifestations

Hemophilia is the most common hereditary coagulopathy. Bleeding occurs due to disruption of plasma coagulation phase. Suffer mainly men but women are heterozygous carriers of recessive X-linked gene. 

Etiology: The cause of the disease is the presence of abnormal recessive gene in the only one X chromosome in males. As a result, the synthesis of anti-hemophilic globulin: f.VIII and f.IX is reduced. 

Pathogenesis: For patients with hemophilia A is characteristic defective production of the blood clotting protein factor VIII (FVIII). Those with haemophilia B have similar problems with Factor IX (FIX). Haemophilia is characterized as "severe" when the activity of the affected clotting factor (FVIII or FIX) is <1% of normal. 

Clinical presentation: bleeding!

Regarding musculoskeletal system:

  • synovial joints are the most common location of the bleeding,
  • followed by soft tissue and bone [1-4].

The most commonly affected joints are the knees, ankles, elbows, shoulders and hips [5-7]:

  • Early changes: articular effusion and haemarthrosis
  • intermediate changes: synovial hypertrophy and deposition of hemosiderin, possible erosions of cartilage
  • Late changes: epiphyseal overgrowth, periarticular osteoporosis and accelerated osteoarthritis - the loss of cartilage, subchondral cysts and osteosclerosis.

Muscle hemorrhage: One of the most frequent localization is iliopsoas muscle. In frequent recurrences (severe deficiency) possible formation of a hemophiliac pseudotumor.

1. Kerr R. Imaging of musculoskeletal complications of hemophilia. Semin Musculoskelet Radiol 2003;07:127-36. 

2. Gaary E, Gorlin JB, Jaramillo D. Pseudotumor and arthropathy in the knees of a hemophilic. Skeletal Radiol 1996;25:85-7. 

3. Hermann G, Gilbert MS, Abdelwahab IF. Hemophilia: Evaluation of musculoskeletal involvement with CT, sonography, and MR imaging. AJR 1992;158:119-23. 

4. Hermann G, Gilbert M. Case report. Hemophilic pseudotumors (presumptive diagnosis) and hemophilic arthropathy of elbow. Skeletal Radiol 1988;17:152-6. 

5. Major N. Magnetic resonance imaging of the elbow. Curr Probl Diagn Radiol 2000;1:27-40. 

6. Funk MB, Schmidt H, Becker S, et al. Modified magnetic resonance imaging score compared with orthopaedic and radiologist scores for hemophilic arthropathy. Hemophilia 2002;8:98-103. 

7. Berquist TH. MR imaging of the musculoskeletal system, 5th edn. In: Elbow and Forearm. Philadelp

Tags: hemophilia, osteoarthritis, haemarthrosis