Infliximab as successful treatment option in a case of adenosine deaminase 2 deficiency.

Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited autoinflammatory disease characterized by systemic inflammation and immunodeficiency. Infliximab proved to be favorable in the treatment of this condition. This case report is concerned with a DADA2 deficient patient treated with infliximab. This is a rare case of DADA2 in a 32-year-old female patient. The patient was admitted with a clinical presentation of erythema, ulcers, and pruritus on both legs and ankles, accompanied by red ulcerative oral lesions, fatigue, malaise, and dizziness. The patient's genetic analysis was positive for DADA2. Treatment based on TNF-α inhibition was highly effective for this patient. We used laboratory testing and punch biopsy as differential diagnostic tools, where antinuclear antibody positivity, high prolactin levels, and high serum C-reactive protein were observed. The punch biopsy revealed both orthohyperkeratosis and parahyperkeratosis of the dermis, diffuse core fragments, plasma in the stratum corneum, and hypergranulous acanthosis. DADA2 treatment is centered on tumor necrosis factor α suppression. Although high-dose systemic glucocorticoids can reduce inflammation in the initial stages of the disease, most patients have a resistant or relapsing response to tapering attempts. The prevalence of undiagnosed cases of autoinflammatory diseases is anticipated to diminish with the growing awareness of them.

Serum calcium in thyroid disease.

Thyroid hormones are believed to influence calcium metabolism. In the present prospective study we investigated the influence of various thryroid diseases on serum calcium levels. In addition to screening for thyroid diseases we measured serum calcium concentrations (S-Ca) in individuals who came to our outpatient service for thyroid diseases from 1992 to 1998. 13,387 persons, among them 9017 patients with thyroid diseases and 4370 persons without thyroid dysfunction, were studied. S-Ca was found to be higher in patients with hyperthyroidism (2.36 +/- 0.11 mmol/L n = 1201, p < 0.05) than in those with subclinical hyperthyroidism (2.33 +/- 0.11 mmol/L, n = 494), with euthyroid goiter (2.32 +/- 0.10 mmol/l, n = 5599), with hypothyroidism (2.31 +/- 0.11 mmol/L, 344), with subclinical hypothyroidism (2.32 +/- 0.10 mmol/L, n = 1290) and in healthy persons (2.31 +/- 0.11 mmol/L, n = 4370). 173/13,387 persons had serum calcium levels < 2.1 mmol/L, among them 31 patients with hypoparathyroidism after strumectomy (31/592) and 2 patients with primary hypoparathyroidism. 106/13,387 persons showed a S-Ca of > 2.6 mmol/L, which in 30 cases was due to primary hyperparathyroidism. Of 55 persons with S-Ca of > 2.6 mmol/L and without any other reason for hypercalcaemia, 31 were found to be in a hyperthyroid state. In conclusion, a clinically not relevant influence on S-Ca was demonstrated in patients with hyperthyroidism as compared with other thyroid diseases and individuals with no thyroid diseases. Measurement of S-Ca in every patient being referred to a thyroid outpatient department is recommended because of the frequent occurrence of postoperative hypoparathyroidism and primary hyperparathyroidism in this setting.

Prevalence of primary hyperparathyroidism in 13387 patients with thyroid diseases, newly diagnosed by screening of serum calcium.

Primary Hyperparathyroidism (PHP) often goes unrecognised. Evidence of the influence of thyroid diseases on parathyroid activity exists. In order to determine the prevalence of primary hyperparathyroidism (PHP) in patients with thyroid diseases, a series of patients referred to an outpatient department for patients with thyroid diseases were examined for additional PHP. In addition to screening for thyroid diseases, serum calcium concentration (S-Ca) was measured in a series of persons who came to our outpatients' service for patients with thyroid diseases during the period 1992 to 1998. 13387 persons, median age 48 y, m = 2367, f = 11020, among them 9017 patients with thyroid diseases and 4370 persons without thyroid dysfunction, were studied. In patients with S-Ca outside the normal range, further diagnostic tests relating to PHP were performed. 106/13387 persons showed S-Ca > or = 2.6 mmol/L, in 31 cases due to PHP. In comparison to persons without thyroid diseases, the occurrence of PHP was significantly higher in patients with thyroid diseases (4/4370 = 0.09% vs. 26/9017 = 0.29%). Furthermore, 2 patients with normal S-Ca were diagnosed as having PHP in addition to another endocrine disease (acromegaly, multiple endocrine neoplasia type IIa, resp.). 31 of the 54 persons with S-Ca > 2.6mmol/L and who showed no other reasons for hypercalcaemia were found to be in a hyperthyroid state. The prevalence of PHP was significantly higher in patients with euthyroid goitre (p < 0.05) and in patients with thyroid carcinoma (p = 0.01) as compared to other persons with thyroid diseases. The groups of patients did not differ with regard to age. However, patients without thyroid diseases were significantly younger (median age 38y). Above the age of 50, the prevalence of PHP became higher in patients with euthyroid goitre or thyroid carcinoma than in those with a healthy thyroid gland. In contrast, in persons of under 50 y, there was no difference between these groups. The percentage of males with PHP was higher than in the total population studied (30% vs. 21.5%). In conclusion, a high occurence of PHP could be demonstrated in patients with thyroid diseases (0.29%) as compared to persons without thyroid dysfunction (0.09%), the highest prevalence being in patients with thyroid carcinoma. A clinically not relevant influence of thyroid function on S-Ca was seen in some patients with hyperthyroidism. Determination of S-Ca is recommended for each patient referred to a thyroid outpatients' department because of the high number of PHP cases in this context.

[Preventive iodine administration and iodine excretion in the Vienna area and in the forest quarter]. / Jodprophylaxe und Jodausscheidung in den Regionen Wien und Waldviertel.

In order to reduce the still substantial iodine deficiency in the Austrian population, compulsory iodisation of salt was increased in 1990 from 10 mg potassium iodide/kg salt to 20 mg potassium iodide/kg. In this investigation we evaluated the adequacy of iodine supply in Vienna and the Waldviertel, a rural region northwest of Vienna. Daily iodine excretion (which reflects daily iodine intake) was investigated in 92 persons from the Waldviertel (all without thyroid gland pathology) and 110 persons from Vienna (54 with unremarkable thyroid glands, 56 with endemic goiter). Daily iodine excretion was higher in persons from the Waldviertel (161 +/- 90.7 micrograms/24 h, p < 0.05) than in those from Vienna (with healthy thyroid glands 126.4 +/- 42.9 micrograms/24 h and with goiter 117.2 +/- 60.5 micrograms/24 h, resp.). In both populations iodine supply as defined by the WHO (excretion of > 150 ug iodine/day) was inadequate. The recommended level was not achieved in 50% of the persons from the Waldviertel region and in 75% of persons from Vienna (healthy thyroid glands 76%, goiter: 75%). Iodine deficiency (intake < 100 micrograms/24 h) was present in 42% persons from the Waldviertel and in 31% and 24% persons, respectively, from Vienna with unremarkable thyroid glands and goiter. We conclude that although the iodine content of salt was increased, an iodine deficiency was present in a considerable portion of the population of an industrialized country (approximately 40% of persons from a rural region and 30% from the city of Vienna).