Abstract
The patient, S.D., a 28-year-old female, came to our attention for mild haemorrhagic diathesis and signs suggestive of a collagen disorder, such as joint and skin hyperextensibility, bronchiectasis, mitral valve prolapse and visceral ptosis. The levels of hydroxylysine (Hyl) glycosides in skin insoluble collagen and in 24 hr urine samples were in the normal range as were urinary free Hyl levels. The amino acid analysis of skin collagen showed a normal ratio of Hyl to Lysine, whereas interrupted SDS-PAG electrophoresis of skin insoluble collagen showed a sharp reduction of the α1 (III) monomer band. The haemostatic tests demonstrated only mild defects of both F IX:C and F IXR:Ag, and a slightly prolonged thrombotest. This behaviour is compatible with that of a haemophilia B carrier with an accompanying Bm defect. On the basis of the biochemical collagen characterization and the mild F IX deficiency, the diagnosis of a possible form of type IV EDS associated with subhaemophilia B was made.
| Original language | English |
|---|---|
| Pages (from-to) | 139-141 |
| Number of pages | 3 |
| Journal | Haematologica |
| Volume | 71 |
| Issue number | 2 |
| Publication status | Published - 1986 |
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ASJC Scopus subject areas
- Hematology
Cite this
Type IV Ehlers Danlos syndrome and factor IX deficiency : A case report. / Gamba, G.; Gatti, V.; Longoni, P.; Grignani, G.; Rizzo, S. C.; Cetta, G.
In: Haematologica, Vol. 71, No. 2, 1986, p. 139-141.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Type IV Ehlers Danlos syndrome and factor IX deficiency
T2 - A case report
AU - Gamba, G.
AU - Gatti, V.
AU - Longoni, P.
AU - Grignani, G.
AU - Rizzo, S. C.
AU - Cetta, G.
PY - 1986
Y1 - 1986
N2 - The patient, S.D., a 28-year-old female, came to our attention for mild haemorrhagic diathesis and signs suggestive of a collagen disorder, such as joint and skin hyperextensibility, bronchiectasis, mitral valve prolapse and visceral ptosis. The levels of hydroxylysine (Hyl) glycosides in skin insoluble collagen and in 24 hr urine samples were in the normal range as were urinary free Hyl levels. The amino acid analysis of skin collagen showed a normal ratio of Hyl to Lysine, whereas interrupted SDS-PAG electrophoresis of skin insoluble collagen showed a sharp reduction of the α1 (III) monomer band. The haemostatic tests demonstrated only mild defects of both F IX:C and F IXR:Ag, and a slightly prolonged thrombotest. This behaviour is compatible with that of a haemophilia B carrier with an accompanying Bm defect. On the basis of the biochemical collagen characterization and the mild F IX deficiency, the diagnosis of a possible form of type IV EDS associated with subhaemophilia B was made.
AB - The patient, S.D., a 28-year-old female, came to our attention for mild haemorrhagic diathesis and signs suggestive of a collagen disorder, such as joint and skin hyperextensibility, bronchiectasis, mitral valve prolapse and visceral ptosis. The levels of hydroxylysine (Hyl) glycosides in skin insoluble collagen and in 24 hr urine samples were in the normal range as were urinary free Hyl levels. The amino acid analysis of skin collagen showed a normal ratio of Hyl to Lysine, whereas interrupted SDS-PAG electrophoresis of skin insoluble collagen showed a sharp reduction of the α1 (III) monomer band. The haemostatic tests demonstrated only mild defects of both F IX:C and F IXR:Ag, and a slightly prolonged thrombotest. This behaviour is compatible with that of a haemophilia B carrier with an accompanying Bm defect. On the basis of the biochemical collagen characterization and the mild F IX deficiency, the diagnosis of a possible form of type IV EDS associated with subhaemophilia B was made.
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M3 - Article
C2 - 3087835
AN - SCOPUS:0023002399
VL - 71
SP - 139
EP - 141
JO - Haematologica
JF - Haematologica
SN - 0390-6078
IS - 2
ER -