Jaccoud arthropathy in a patient with rhupus

Clinical Rheumatology -     

Ankle and hindfoot arthropathy in hereditary hemochromatosis

Arthropathy is a leading clinical manifestation of hereditary hemochromatosis (HH), but involvement of the ankle and hindfoot joints is rare. We describe 3 male patients who presented with symmetrical pain and swelling of the ankles. Radiographs and magnetic resonance imaging showed severe osteoarthritic degenerative changes with a radiological triad of joint space narrowing, subchondral sclerosis, and cyst formation. In all 3 cases a homozygous C282Y mutation in the HFE gene was detected and liver biopsies confirmed the diagnosis of HH. Other differential diagnoses could be excluded. Severe arthropathy of the ankle and hindfoot in comparatively young men can be a leading presentation of HH.     

Articular cartilage in the degenerative arthropathy of hemochromatosis

Iron was readily demonstrated in chondrocytes in 3 of 4 hemochromatosis articular cartilages studied. Either apatite, calcium pyrophosphate dihydrate crystals, or both were found in all cartilages including those of 3 patients who had no radiographic or light microscopic evidence of calcification. These crystals, which may be secondary to degenerative changes or may play a role in cartilage degeneration, were not seen in any consistent morphologic relationship with the iron deposits. In fact, apatite was found in one cartilage in which no iron was identified in the sections studied. If iron, as demonstrated in the chondrocytes, is contributing to the calcium crystal deposition, it would most likely do so indirectly, for example by altering chondrocyte enzymes or connective tissue components.     

原发性血色病一例报道

1病例资料患者男,64岁,公路沥青工人。因"间断乏力,头晕5年余,加重伴腹胀,尿少4个月"以"肝硬化"收入院。5年前因间断乏力,头晕,诊断为继发性再障。4个月前因腹胀,尿少(24 h尿量为700～800 ml),空腹     

Asymmetrical manifestation of rheumatoid arthritis in poliomyelitis

We report the rare case of a woman initially diagnosed with poliomyelitis who later developed rheumatoid arthritis (RA) asymmetrically. A radiological sparing effect was observed in the patient’s paralyzed limb. We observed that the blood flow to the paralyzed limb was diminished. It has been generally believed that a diminished blood flow contributes to the development of RA; however, in this patient the diminished blood flow was associated with protective effects against destructive changes due to RA.     

Multiple neuropathic arthropathy in a patient with syphilis

Summary An unusual case of neuropathic arthropathy in a patient with tabes dorsalis is presented. The special feature consisted of multiple joint involvement in the upper limbs and spine. This uncommon location of Charcot joints can probably be attributed to the patient's occupation which involved heavy strains on his upper limbs.     

Erosive arthritis in a patient with amyloid arthropathy

Summary Amyloid arthropathy is said to be distinguished roentgenographically from rheumatoid arthritis by the absence of joint space narrowing and the absence of articular erosions. We present a patient with multiple myeloma with swelling, stiffness and firm synovial thickening of the wrists, metacarpophalangeal joints and proximal interphalangeal joints whose hand radiographs showed articular erosions of the carpal joints and ulnar styloid and joint space narrowing of the proximal interphalangeal joints and metacarpophalangeal joints. Synovial biopsy of the left wrist showed amyloid deposits with no inflammation. Previous reports of X-ray changes in amyloid arthropathy note preservation of joint spaces or widening. Erosions when noted are of non-articular bone rather than of the articular surface. This is the first case report of erosive articular disease in amyloid arthropathy.     

Pulmonary function in individuals with a history of poliomyelitis

We examined the relationship between the lung function of 74 individuals with a history of poliomyelitis and reports of shortness of breath during activities of daily living, and the presence of post-polio sequelae risk factors. First, we studied the spirometry of 60 individuals (group 1) and second, we studied the relationship between the spirometry of an additional 14 individuals (group 2) and their respiratory muscle strength (Pimax and Pemax). In both groups, we examined the relationship between factors associated with post-polio sequelae including ventilation at polio-onset, having contracted polio after the age of 10, and having had polio for over 35 years; and lung function. In group 1, the FEV1 and FVC were lower for individuals with shortness of breath than individuals without (p less than 0.01). With respect to risk factors, FEV1 and FVC were lower in individuals who were ventilated at polio-onset, in individuals who contracted polio over 10 years of age, and in individuals who had had polio for less, rather than more than 35 years (p less than 0.05). The results for group 2 were comparable to group 1. In addition, the observed Pimax and Pemax were significantly lower than predicted values (p less than 0.05). Although FEV1 and FVC were positively correlated with both Pimax and Pemax (p less than 0.05), Pemax was disproportionately impaired compared to Pimax (40 +/- 12.1 and 82 +/- 38.8 percent predicted respectively). We conclude that individuals with a history of poliomyelitis can have compromised lung function irrespective of shortness of breath, that risk factors such as ventilation at polio-onset and polio-onset after 10 years of age can help predict those at risk of respiratory compromise, and that the measurement of respiratory muscle strength and of Pemax in particular, can augment the assessment of lung function of these individuals. Such assessment may avert respiratory complications in the post poliomyelitis population including those secondary to health care interventions.     

Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia

Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 diseases, both responsible for the iron overload. This report points out the need to consider congenital dyserythropoietic anemia in patients with hemochromatosis and unexplained macrocytosis and, conversely, to check for the presence of hereditary hemochromatosis in patients with congenital dyserythropoietic anemia and severe iron overload. To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia.     

Hepatocellular carcinoma in a noncirrhotic patient with hereditary hemochromatosis

We report the case of a 66-year-old man with genetic hemochromatosis who was found to have hepatocellular carcinoma (HCC) in the absence of cirrhosis. This is a rare and life-threatening complication of noncirrhotic hemochromatosis that has been described only 10 times in the English literature. In addition to presenting our case, we also cite some other potential causes of HCC in noncirrhotic patients that should be clinically considered. Although the incidence of HCC in noncirrhotic hemochromatosis patients is not sufficiently high to warrant routine screening, physicians should be aware that this fatal complication may rarely occur.     

A family study of a patient with idiopathic hemochromatosis

A family study of a patient with idiopathic hemochromatosis using noninvasive techniques is presented. All 6 of the patient's asymptomatic children had an increase in transferrin saturation and/or an increase in the absorption of Co⁵⁷. The Co⁵⁷ absorption test was the most sensitive index of family involvement since one of the children had an increase in absorption at a time when transferring saturation was normal. The family data strongly support the hereditary nature of the disorder, with the mode of inheritance not clearly established from the available data.     

Hepatocellular carcinoma in a patient with hereditary hemochromatosis without cirrhosis

Hepatocellular carcinoma in patients with hereditary hemochromatosis in the cirrhotic phase is one of the complications causing greatest mortality and may present in spite of removal of excess iron by bloodletting. Hepatocellular carcinoma is usually considered to occur in cirrhotic livers and consequently measures for the early diagnosis of this complication are only recommended in this type of patient. We present the case of a 69-year-old female patient with non-cirrhotic hemochromatosis who, 6 years after undergoing successful treatment, developed hepatocellular carcinoma. This observation should be added to the 12 cases published in the literature. Criteria should be established for the early diagnosis of hepatocellular carcinoma in patients with hereditary hemochromatosis, irrespective of whether they have cirrhosis.