[The articular damage of hemochromatosis. A little known aspect].
Genetic haemochromatosis is a HLA-linked disease characterized by a high and inappropriate gastrointestinal iron absorption; the excess iron is stored in parenchymal cells, provoking the failure of the involved organs. The common target organs of genetic haemochromatosis are liver, heart, pancreas, pituitary, joints and skin. The disease is inherited in an autosomal recessive manner with predilection for male sex and penetration conditioned by age, sex and food habits. The first clinical manifestation of genetic haemochromatosis, whose onset is typically between ages 40 and 60, is represented by arthropathy in 45% of the cases; the articular features are unfortunately often misdiagnosed and it is known that the diagnosis delay heavily compromises the outcome; vice-versa the early identification of the disease, and the consequent suitable treatment give back a normal life expectancy to these patients. The articular features of genetic haemochromatosis are of two types: 1) progressive degenerative arthropathy, characterized by pain without inflammatory signs, morning stiffness and functional impairment involving hands, wrists, shoulders, hips, knees and feet; 2) chondrocalcinosis with its typical proteiform clinical manifestations. The aim of this report is to underline that the patients with premature osteoarthritis or unexplained chondrocalcinosis must be screened for genetic haemochromatosis in order to formulate the correct diagnosis before the development of severe internal organ involvement.
Biasi
D
D
Istituto di Patologia Speciale Medica, Università, Verona.
Carletto
A
A
Caramaschi
P
P
Maleknia
T
T
Scambi
C
C
Melchiori
S
S
Bambara
L M
LM
D005260:Female; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D008297:Male