title: Idiopathic avascular necrosis of the femoral heads in five members of a Moroccan family.
abstract: Avascular necrosis (AVN) is idiopathic in about 40% of cases. The pathophysiology of avascular necrosis remains incompletely elucidated. Here, we report a case that underlines the role for inherited factors in AVN of the femoral heads. Idiopathic AVN of the femoral heads occurred in five members of the same family (a woman, her two paternal aunts, her male paternal cousin and her female paternal cousin) at a mean age of 42.4 years (range, 33-58 years). Standard pelvic radiographs showed Arlet and Ficat stage 4 AVN in three patients and stage 3 in two patients. None of the patients had a history of glucocorticoid therapy, alcohol abuse, or trauma. All five patients underwent investigations for a cause, including blood cell counts, a lipid profile, coagulation tests, testing for antinuclear antibodies, hemoglobin electrophoresis, ultrasonography of the abdomen, and standard radiographs of the long limb bones. The results were normal or negative, ruling out known hereditary causes of AVN such as sickle cell anemia and Gaucher disease. Many cases of familial AVN of the femoral head have been described in patients with sickle cell anemia or Gaucher disease. However, only five families with idiopathic familial AVN of the femoral heads have been reported (three in the US and two in Taiwan). All the patients in these families had isolated bilateral AVN of the femoral heads without AVN at other sites.
authors.affiliation: Service de Rhumatologie, CHU Ibn Rochd, Casablanca, Morocco. jihane.sekkat@gmail.com
authors.forename: Jihane
authors.initials: J
authors.lastname: Sekkat
authors.forename: Ouafaa
authors.initials: O
authors.lastname: Rachidi
authors.forename: Saadia
authors.initials: S
authors.lastname: Janani
authors.forename: Ouafaa
authors.initials: O
authors.lastname: Mkinsi
mesh_terms: D000328:Adult; D024043:Collagen Type II / Q000235:genetics; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D005271:Femur Head Necrosis / Q000000981:diagnostic imaging / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009018:Morocco; D009154:Mutation / Q000235:genetics; D052250:Nitric Oxide Synthase Type III / Q000235:genetics; D010375:Pedigree; D011859:Radiography
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II; D052250:Nitric Oxide Synthase Type III