Congenital Afibrinogenemia in Goats

Abstract

Summary A case of congenital afibrinogenemia in goats is described. The animal shows severe haemorrhagic diathesis with joint bleedings. The patient's blood was absolutely incoagulable. Immunologically no fibrinogen could be demonstrated in the plasma. The other clotting factors were present in normal concentrations. Fibrinolytic activity was not increased. The bleeding time was prolonged and the platelet adhesiveness on passage through a glass filter was diminished. The radiologic examination revealed the presence of a progressive change in the structure of the bone tissue. Multiple bone cysts developed. Microscopic examination revealed the presence of hyalin globules in the liver cells. Genetic examinations were carried out during six years. Four out of 34 descendents had the same symptoms as the first patient. A low fibrinogen content seems to be an expression of heterozygosity. Because of the severity of the bleeding tendency it was not possible to keep the animals alive for long. The genetic investigation led to the hypothesis that congenital afibrinogenemia in the goat may be considered as an “inborn error of metabolism” and could be due to a point mutation in a control gene. The hereditary pattern of the phenotype (fibrinogen content) seems to be incompletely dominant. Zusammenfassung In der vorliegenden Arbeit wird ein Fall von angeborener Afibrinogenämie bei einer Ziege beschrieben. Das Tier litt unter schwerer hämorrhagischer Diathese mit Blutungen in die Gelenke. Das Blut des Patienten war nicht gerinnungsfähig. Immunologisch konnte kein Fibrinogen im Plasma nachgewiesen werden. Die restlichen Gerinnungsfaktoren waren hingegen in normaler Konzentration vorhanden. Die Fibrinolyse‐Aktivität war nicht erhöht. Die Blutungszeit war verlängert und das Klebevermögen der Blutplättchen beim Passieren eines Glasfilters war vermindert. Die röntgenologische Untersuchung zeigte progressive Veränderungen im Knochengewebe. Es entwickelten sich vielfache Knochenzysten. Mikroskopisch stellte man Hyalintropfen in den Leberzellen fest. Während 6 Jahre wurden genetische Untersuchungen vorgenommen. 4 von 34 Nachkommen des ersten Patienten zeigten dieselben Symptome. Ein niedriger Fibrinogenspiegel scheint ein Anzeichen von Heterozygotie zu sein. Wegen der schweren Form der hämorrhagischen Diathese war es nicht möglich, die Tiere lange am Leben zu halten. Auf Grund der genetischen Untersuchung gelangen die Autoren zu folgender Hypothese: die kongenitale Afibrinogenämie der Ziege ist eine “angeborene Fehlleistung des Stoffwechsels” und könnte ihre Ursache in einer Punktmutation im Kontrollgen haben. Die Vererbung des Phänotyps (Fibrinogengehalt) scheint inkomplett dominant zu sein. Résumé Afibrinogènémie congénitale chez les chèvres Dans le présent travail, on décrit un cas d'afribrinogènémie congénitale chez une chèvre. L'animal souffre d'une diathèse hémorragique grave, avec hémorragies articulaires. Le sang du patient est incoagulable. A l'immunologie, on ne trouve pas de fibrinogène dans le plasma. Par contre, les autres...

Thrombin generation by calibrated automated thrombography in goat plasma: Optimization of an assay

“…Studies performed in the 1970s reported that overall coagulation values were similar between the two species. However, the goat plasma had a shorter activated thromboplastin time and a longer thrombin time compared with human plasma according to the measurements of the time 18,19 . In our study, we observed that the standard settings developed to measure thrombin generation in human plasma did not yield reliable thrombin generation curves in goat plasma.…”

“…However, the goat plasma had a shorter activated thromboplastin time and a longer thrombin time compared with human plasma according to the measurements of the time. 18,19 In our study, we observed that the standard settings developed to measure thrombin generation in human plasma did not yield reliable thrombin generation curves in goat plasma. This may be explained by the fact that the human TF in PPP reagents may not have a high affinity for the goat FVIIa.…”

Congenital Abnormalities of the Fibrinogen Molecule

“…The author has reviewed 35 additional cases described until 1973, bringing the total number of cases to 127 [1,2,5,6,8,10,20,26,29,44,52,59,78,83,90,93,95,105,107,109,110,112,113,118,133]. In addition to human beings, afibrinogenemia has also been observed in goats [23] and dogs [72].…”

Clotting Profiles in Newborn Maltese Kids during the First Week of Life

“…Differently, the significant increase of PT during the first 7 days of life in kids could depend on variations in coagulation factors that leading extrinsic pathway (low levels of factor VII) present during the maturity of the liver. Furthermore, knowing the clotting factor profile during the first week of life is important for clinical management of hereditary diseases of goats, such as factor VII 6 and fibrinogen deficiency, which are associated with severe bleeding 25 . The results of the present study contribute to the knowledge of clotting adaptations in newborn kids and provide useful information for the diagnosis and treatment of some neonatal diseases.…”