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Table 1 Comparison of Thiemann disease and FDAB

From: Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?

  Thiemann disease Familial Digital Arthropathy and Brachydactyly (FDAB)
Gender M–F ratio is 1:1.1
(9 males, 10 females, 17 different families)
M–F ratio is 1:1.1
(12 males, 13 females, 4 different families)
Age of onset 8 years −40 years (median age = 24 years) First decade, earliest reported age was 10 years.
Pattern of inheritance /genetic etiology Autosomal dominant/ unknown Autosomal dominant/TRPV4 variants
Clinical features
Pain 73% (14/19), usually mild. Prominent feature
Swelling 75% (15/20) Prominent feature
Joint movement limitation 73% (14/20) Present
Symmetrical 85% (17/20) Prominent feature
Radiological features
Affected hand joints 95% (19/20): PIPs are more severely affected than DIPs
 o PIPS 95% (19/20)
 o DIPs 40% (8/20)
 o MCPs 20% (4/20)
Constant involvement of PIPs, DIPs and MCPs.
(DIPs were more severely affected than PIPs)
Affected feet joints 20% (4/20)- MTPs By adulthood, all MTPs are affected
Flattening 35% (7/20) Prominent feature
Irregularities 45% (9/20) Prominent feature
Short phalanges 25% (5/20) Prominent feature (progressive)
Broadening 15% (3/20) Present
Joint space reduction 40% (8/20)
 o PIPs (8/20)
 o DIPs (3/20)
Present (in adulthood)
Subchondral cysts 5% (1/20) Present
Fragmentation 35% (7/20) Not reported
Lateral deviation 5% (1/20)- ulnar Prominent feature (Radial>ulnar)
  1. M male, F female, PIPs proximal interphalangeal joints, DIPs distal interphalangeal joints, MCPs metacarpophalangeal joints, MTPs metatarsophalangeal joint