Table 2 IMDs revealed by arthritis in adulthood: the essential
From: Joint manifestations revealing inborn metabolic diseases in adults: a narrative review
Gene | Inheritance | Patients profile rheumatologists should be aware of | Joint manifestations | Treatment | |
|---|---|---|---|---|---|
Enzymopathic gout | HPRT PRPS | X-linked recessive | Severe gout in young patients, tophi and urate nephropathy ↓ HGPRT activity ↑ PRPP synthetase activity | Acute mono or polyarthritis of the large joints Deforming asymmetric chronic mechanical polyarthralgia | Urate-lowering drug (allopurinol) Colchicine |
Gitelman | SLC12A3 | Autosomal recessive | Muscle weakness, paresthesia, abdominal pain, chondrocalcinosis in young patients. Hypokalemia, hypomagnesemia, hypocalciuria | Chondrocalcinosis | Symptomatic |
Hypophosphatasia | ALPL | Autosomal recessive or dominant | Chondrocalcinosis in young patients, Bone demineralization ↓ serum ALP activity ↑ urinary phosphoethanolamine | Chondrocalcinosis | Symptomatic Teriparatide Monoclonal anti sclerostin antibody,asfotase alpha |
Primary hyperoxaluria | AGTX | Autosomal recessive | Onset before 25 years : microcrystalline arthropathy, urinary lithiasis, vascular, cardiac and eye affection Hyperoxaluria, hyperglycolaturia ↓ AGT activity on PBH | Microcrystalline arthropathy: acute or chronic mono- or polyarthritis predominantly distal | Pyridoxine phosphate, lumisaran |
Wilson disease | ATP7B | Autosomal recessive | Onset before the age of 20 years : Arthritis and chondrocalcinosis, hepatic and neurological form, tubulopathy, osteoporosis, cardiopathy, hemolysis ↓ serum ceruloplasmin ↑ cupruresis | Destructive arthritis of the large joints, Chondrocalcinosis | Copper chelating agents or zinc |
MVK deficiency | MVK | Autosomal recessive | Relapsing fever for 3–7 days, arthritis. ↑ mevalonaturia during an attack | Nonerosive symmetrical arthritis or polyarthritis of the large joints | Symptomatic |
Familial hypercholesterolemia | LDLR APOB PCSK9 | Autosomal dominant | Around the age of 20 years : Tendon xanthomas, coronary artery disease, arthritis ↑ LDL cholesterol | Achilles tendonitis Acute mono or oligoarthritis of the knee / ankle, nondestructive febrile subacute polyarthritis | Statin - ezetimibe Anti-PCSK9 |
Sitosterolemia | ABCG5 ABCG8 | Autosomal recessive | Young adult with tendon xanthomas, arterial disease, hepatic or hematological manifestations ↑ Sitosterol | Arthralgias or arthritis Achille tendonitis | Ezetimibe |