Heredo-Familial Vascular and Articular Calcification

Abstract

This report concerns a family, several members of which display an unusual type of calcification of joint structures and arteries, calcification and ossification of ligaments, and juxta-articular and periosteal new bone formation.The full syndrome is a readily recognizable clinical entity and appears to be rare, since only two previous reports of similar cases have been traced in the literature. Magnus-Levy (1914) described a patient, a 47-year-old German female, who gave a history of recurrent attacks of painful joint swellings, starting in her teens in isolated fingers and later involving the hands and elbows. Each attack was followed by firm enlargement of the affected joints. She later developed intermittent claudication in the legs and evidence of heart failure. The joints of the fingers were enlarged, there was extensive thickening and tortuosity of the larger limb vessels, and radiologically there were calcifications in relation to the olecranon, patella, and finger joints, and the thickened vessels showed heavy calcification of an unusual pattern. Levitin (1945) reported the case of a 24-year-old American serviceman who complained of painful swelling of the joints of the hands and pain in one knee of 2 weeks' duration. He also had painless swelling of the finger joints and nodular thickening of the arteries of the limbs and the tongue, but there was no obvious abnormality of the peripheral circulation. The radiological changes closely resembled those in Magnus-Levy's patient.Case Reports Case 1. A 47-year-old taxi-driver complained of attacks of painful swelling in the hands and feet, stiffness of the back, and pain in the calves on walking.He gave a history that about 20 years ago he suddenly developed pain and swelling of the dorsum of the right hand with heat and redness of the overlying skin. Over the next few days the wrist and fingers became affected, the whole region being uniformly swollen. Moderate 15 spontaneous pain was present, and movement of the wrist and lingers was excruciatingly painful. The attack gradually subsided in about 4 weeks, leaving slight residual enlargement of the wrist and finger joints. Some months later, an identical attack occurred in the left hand and similar milder attacks were noted subsequently in the feet and on one occasion in the right elbow. He had not felt ill, and did not think that he had been febrile during these episodes. The attacks, always confined to one site, occurred at irregular intervals of about 2 to 6 months, and each attack left further joint enlargement in the affected region with some limitation of movement. During the past 10 years or so, the attacks had been much milder, involving one or sometimes two or three adjacent fingers, and small transitory painful lesions had developed at new sites, particularly over such bony prominences as the ischial tuberosities and heels, and once over the manubriosternal region. In addition, he had noted occasional aching in the larger joints, particularly the knees and shoulders.About 10 years ago, following for...

Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation

“…The clinical picture of arterial calcification of the lower extremities and joint calcifications has been described as early as 1914 and an inherited nature of this disease was suggested in 1954 (CALcification of Joints and Arteries; CALJA; #211800) [2]. In our patient, the typical distribution of the vascular calcifications in combination with the small joint calcification, suggested a recessive defect in the NT5E gene, as previously described in three families with CALJA [1].…”

NT5EMutations and Arterial Calcifications

“…The familial nature of this condition was first suggested in a report on two affected siblings by Sharp17 in 1954, leading to a subsequent record in the Online Mendelian Inheritance in Man database (OMIM number, 211800). Other, single cases were described by Nosaka and colleagues18 and Mori and coworkers,19 yielding a total of seven cases published to date.…”

Calcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype

“…4,5 To our best knowledge, only 16 cases with CALJA from 9 families were previously reported in the literature worldwide. 3,6,7 CALJA is characterized by late onset calcification of the lower extremity arteries and hand and foot joint capsules. In 2011, St Hilaire et al 3 discovered that mutations in NT5E, encoding cluster of differentiation 73 (CD73), are implicated in CALJA.…”