Type IV Ehlers Danlos syndrome and factor IX deficiency: A case report

G. Gamba, V. Gatti, P. Longoni, G. Grignani, S. C. Rizzo, G. Cetta

Research output: Contribution to journalArticle

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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 languageEnglish
Pages (from-to)139-141
Number of pages3
JournalHaematologica
Volume71
Issue number2
Publication statusPublished - 1986

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Ehlers-Danlos Syndrome
Hemophilia B
Collagen
Hydroxylysine
Skin
Hemorrhagic Disorders
Mitral Valve Prolapse
Bronchiectasis
Prothrombin Time
Hemostatics
Lysine
Electrophoresis
Reference Values
Joints
Urine
Amino Acids

ASJC Scopus subject areas

  • Hematology

Cite this

Gamba, G., Gatti, V., Longoni, P., Grignani, G., Rizzo, S. C., & Cetta, G. (1986). Type IV Ehlers Danlos syndrome and factor IX deficiency: A case report. Haematologica, 71(2), 139-141.

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 journalArticle

Gamba, G, Gatti, V, Longoni, P, Grignani, G, Rizzo, SC & Cetta, G 1986, 'Type IV Ehlers Danlos syndrome and factor IX deficiency: A case report', Haematologica, vol. 71, no. 2, pp. 139-141.
Gamba G, Gatti V, Longoni P, Grignani G, Rizzo SC, Cetta G. Type IV Ehlers Danlos syndrome and factor IX deficiency: A case report. Haematologica. 1986;71(2):139-141.
Gamba, G. ; Gatti, V. ; Longoni, P. ; Grignani, G. ; Rizzo, S. C. ; Cetta, G. / Type IV Ehlers Danlos syndrome and factor IX deficiency : A case report. In: Haematologica. 1986 ; Vol. 71, No. 2. pp. 139-141.
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