Table 1 IMDs revealed by arthralgia in adulthood: the essential

HFE1 hemochromatosis

HFE

Autosomal recessive with variable penetrance.

Onset after 35 years : Asthenia, increased aminotransferases, arthralgias

Melanodermia, diabetes, heart disease, hypogonadism

↑CST, ↑serum ferritin

MCP of the 2nd and 3rd fingers Chondrocalcinosis

Therapeutic bloodletting

Alkaptonuria-ochronosis

HGD

Autosomal recessive

Onset after 30–40 years : Bluish nose, sclera and ears, black urine, ↑ urinary homogentisic acid

Chronic low back pain, and then arthralgia of the large joints

Diffuse calcification of the intervertebral discs

Nitisinone

MPS

IDUA (1)

IDS (2)

GALNS (4a)

ARSB (6)

GUSB (7)

Autosomal recessive (except MPS 2, X-linked)

Onset within the 1st decade : Recurrent hernia, corneal clouding, organomegaly, valvular heart disease, sleep apnea syndrome

↑ Urinary GAGs specific enzyme activity

Non-inflammatory progressive stiffness in the hands and shoulders

Claw hand, carpal tunnel syndrome, hip dysplasia, multiple dysostosis, spinal deformities

Enzyme replacement therapy (for MPS 1, 2, 4a,6 and 7)

Type 3 mucolipidosis

GNPTAB or GNPTG

Autosomal recessive

Onset within the 1st decade : organomegaly, valvulopathies

Acid hydrolases activity:

↑ in the serum

↓ in cultured fibroblasts

Non-inflammatory progressive stiffness in the hands and shoulders

Carpal tunnel syndrome, hip dysplasia, multiple dysostosis, spinal deformities

Symptomatic

Gaucher disease type 1

GBA

Autosomal recessive

Mean age at diagnosis 22 years : Hepato-splenomegaly, anemia and thrombocytopenia, bone infarction, osteolysis, osteoporosis, small in size

↓ glucocerebrosidase activity

Acute painful crises: aseptic osteonecrosis

Chronic pain: arthropathies, deformities

Enzyme replacement therapy or substrate reduction therapy