AIMS/BACKGROUND--The aetiology of Fuchs' heterochromic uveitis (FHU) is unknown although it can occur in combination with a number of different ocular conditions. Five patients with FHU who show an association with sarcoidosis were studied. METHODS--Four patients with clinical signs compatible with FHU who had elevated serum angiotensin converting enzyme levels (sACE), and a fifth case with a normal sACE and a positive Kveim test were described. RESULTS--All five cases had iris nodules, two later developed mutton fat keratic precipitates, and one had peripheral retinal periphlebitis. Of the four cases with elevated sACE, one had respiratory function test abnormalities and an abnormal chest x ray compatible with pulmonary sarcoidosis. Another had a chorioretinal scar and developed intermediate uveitis 2 years after presentation. CONCLUSIONS--In all of these cases a diagnosis of FHU may represent a specific secondary ocular response to sarcoidosis rather than a primary idiopathic uveitis syndrome. Although FHU remains a clinical diagnosis, routine uveitis investigations should still be performed in this group of patients.
The author reports a case of orbital Sarcoidosis in a 70-year-old female that initially presented as diffuse swelling of the lower eyelid. The patient complained of painless swelling of the left lower lid without palpable mass, and a computerized tomography (CT) scan of the orbit was unremarkable. A serum angiotensin converting enzyme level was elevated, and hilar lymphadenopathy was noted on the chest CT. The patient underwent surgical debulking for histologic confirmation, which led to a final diagnosis of sarcoidosis involving the orbital fat. Unexplained chronic eyelid swelling without a mass should be considered a possible ophthalmic manifestation of orbital sarcoidosis.
Chronic swelling; Lower lid; Orbital sarcoidosis
To review a general hospital’s experience with sarcoidosis and the clinical pattern of the disease among Saudis.
A retrospective file review was carried out on all patients with a proven diagnosis of sarcoidosis in a general hospital in Eastern Saudi Arabia over a period of 11 years (1998–2008).
Sixty-nine patients, of whom 33 cases were included in the analyses, were diagnosed to have sarcoidosis during the study period. There were 18 females and 15 males. The mean age was 44.5 years (SD 17). The most common presentations were cough (48%), dyspnea (21%), joint pain (18%), splenomegaly (12%), hepatomegaly (9%), and lymphadenopathy (5%). The biochemical analysis showed elevated calcium levels in 6% and elevated angiotensin converting enzyme (ACE) in 14 (46.7%). The tuberculin skin test was negative in all tested patients (n = 29) except one patient. The patients were classified using the modified Scadding classification system. None of the patients was in stage 0, 39.4% were in stage 1, 45% were in stage 2 and 15% were in stage 3.. The diagnosis in all patients was proven histologically. The outcome was favorable in most patients (85%), and in 6% of the patients, the course was chronic and progressive, although 66% received active treatment.
Sarcoidosis does occur in native Saudis. The clinical presentation of these patients was similar to the western pattern of disease with some differences such as relative lack of cardiac, eye, parotid, and central nervous system involvement. The rarity of cardiac and central nervous system involvement was comparable with other Middle Eastern studies. Sarcoidosis, though rare in our community, should still be considered in the differential diagnosis of patients with the typical presentation after excluding tuberculosis.
Diagnosis; lymphoma; sarcoidosis; Saudi Arabia; tuberculin skin test; tuberculosis
Serum angiotensin I converting enzyme (ACE) and lysozyme have been measured in 23 controls, 115 patients with sarcoidosis, and 64 with other chest diseases. Both enzymes were significantly raised in sarcoidosis. ACE was raised above the normal range in 21 of 72 (29%) patients with definite sarcoidosis and in 17 of 38 (45%) of those who were untreated and seen within one year of presentation. The rise discriminated usefully between those with stable and progressive disease (5% and 62% respectively). Lysozyme was raised in 50 of 72 (69%) patients with sarcoidosis but also in 11 of 54 (20%) patients with other chest diseases. Discrimination between stable and progressive disease was useful only if very high levels were considered. Five patients had serial measurements after treatment with oral steroids and showed a progressive fall in levals of both enzymes, but patients with other diseases also showed a significant fall within the normal range when so treated. Measurement of these enzymes may help in the management of some cases of sarcoidosis, but results require critical interpretation.
A prospective study of total and ultrafiltrable serum calcium levels in 121 patients with sarcoidosis and thirty-eight control subjects revealed no significant differences. Two patients had hypercalcaemia (11·6 and 12·2 mg%) at the time of initial sampling; one spontaneously returned to normal. Retrospective analysis of 318 cases previously studied demonstrated persistent hypercalcaemia in eight of 262 negroes and two of fifty-six whites, with a male to female ratio of seven to three.
Serial calcium measurements in thirty-four patients and single determinations in eighty-seven patients taken during the course of 1 year failed to show seasonal fluctuation.
These observations suggest that calcium metabolism is normal in most patients with sarcoidosis. When persistent hypercalcaemia is found in a patient with sarcoidosis, careful study for associated hyperparathyroidism is essential, especially if the sarcoidosis is otherwise asymptomatic or inactive.
Background: Increased production of nitric oxide (NO) by the lower respiratory tract is viewed as a marker of airway inflammation in asthma and bronchiectasis. NO is a potentially important immune modulator, inhibiting the release of several key pro-inflammatory cytokines. As sarcoidosis is characterised by granulomatous airway inflammation, we hypothesised that exhaled NO levels might be raised in sarcoidosis and correlate with the morphological extent and functional severity of disease.
Methods: Fifty two patients with sarcoidosis (29 men) of mean age 42 years underwent thin section computed tomography (CT), pulmonary function tests, and measurement of exhaled NO.
Results: Exhaled NO levels (median 6.8 ppb, range 2.4–21.8) did not differ significantly from values in 44 control subjects, and were not related to the extent of individual CT abnormalities or the level of pulmonary function impairment.
Conclusion: Exhaled NO levels are not increased in pulmonary sarcoidosis.
Idiopathic pulmonary fibrosis (IPF) and sarcoidosis are common diagnoses in patients attending chest clinics, but little is known about the epidemiology of these diseases. We used data from a general practice database to provide information on the current incidence of IPF and sarcoidosis in the UK.
Data were extracted for all patients with a diagnosis of IPF or sarcoidosis between 1991 and 2003. The whole population of the database was used to calculate disease incidence stratified by age, sex, region, and time period. Poisson regression was used to compare the incidence between populations and Cox regression was used to compare survival between populations.
920 cases of IPF (mean age 71 years, 62% male) and 1019 cases of sarcoidosis (mean age 47 years, 47% male) were identified. The overall incidence rate per 100 000 person‐years was 4.6 for IPF and 5.0 for sarcoidosis. The incidence of IPF increased progressively between 1991 and 2003 (p<0.00001), and was highest in Northern England and Scotland (p<0.0001). The survival of patients with IPF was stable over time. In contrast, the incidence of sarcoidosis was highest in London, West Midlands and Northern Ireland and remained stable over time.
The incidence of IPF has more than doubled between 1990 and 2003; this is not due to the ageing of the UK population or an increased ascertainment of milder cases. The incidence of sarcoidosis has not changed during this time period. Our findings suggest that more than 4000 new cases of IPF and 3000 new cases of sarcoidosis are currently diagnosed each year in the UK.
idiopathic pulmonary fibrosis; sarcoidosis; epidemiology
A 55-year-old woman was admitted for an elevated serum carbohydrate antigen-125 (CA-125) level, and a left pleural effusion, which were detected at a routine health examination. Computed tomography of the chest was performed upon admission, revealing extensive bilateral paratracheal and mediastinal lymph node enlargement with a massive left-sided pleural effusion. Subsequent analysis of the pleural fluid demonstrated consistency with an exudate, no evidence of malignant cells, and a normal adenosine deaminase. However, the pleural fluid and serum CA-125 levels were 2,846.8 U/mL and 229.5 U/mL, respectively. A positron emission tomography did not reveal any primary focus of malignancy. Finally, a surgical mediastinoscopic biopsy of several mediastinal lymph nodes was performed, revealing non-necrotizing granulomas, consistent with sarcoidosis. After a month of treatment of prednisolone, the left pleural effusion had resolved, and after 2 months the serum CA-125 level was normalized.
Sarcoidosis; Pleural Effusion; CA-125 Antigen
Chest-X-ray has several limitations in detecting the extent of pulmonary disease in sarcoidosis. It might not reflect the degree of pulmonary involvement in patients with sarcoidosis when compared to computed tomography of the thorax. We aimed to investigate the HRCT findings of pulmonary sarcoidosis and to find out the existence of possible relations between HRCT findings and PFTs. In addition, we aimed to investigate the accordance between HRCT findings and conventional chest-X-ray staging of pulmonary sarcoidosis.
45 patients with sarcoidosis with a mean age 29.7+/− 8.4 years were evaluated. Six of them were female and 39 were male. The type, distribution and extent of the parameters on HRCT/CTs were evaluated and scored. Chest-X-rays were evaluated for the stage of pulmonary sarcoidosis. Correlations were investigated between HRCT/CT parameter scores, Chest X-Ray stages and pulmonary function parameters.
Nodule, micronodule, ground glass opacity and consolidation were the most common HRCT findings. There were significant correlations between pulmonary function parameters, HRCT pattern scores, and chest-X-ray stages. A significant correlation between chest-x-ray score and total HRCT score was found.
Pulmonary sarcoidosis patients might have various pulmonary parenchymal changes on HRCT. Thorax HRCT was superior to chest-X-ray in detecting pulmonary parenchymal abnormalities. The degree of pulmonary involvement might be closely related to the loss of pulmonary function measured by PFTs. Chest-X-ray is considered to have a role in the evaluation of pulmonary sarcoidosis.
To report an undiagnosed case of systemic sarcoidosis manifesting with bilateral acute posterior multifocal placoid pigment epitheliopathy (APMPPE).
A 26-year-old Caucasian man was referred for management of unilateral visual loss together with a paracentral scotoma developing 2 weeks after a flu-like syndrome. Clinical signs and ancillary diagnostic investigations suggested APMPPE. Laboratory tests demonstrated elevated serum angiotensin converting enzyme and lysozyme levels. Chest CT-scan disclosed moderate hilar lymph node calcifications but QuantiFERON-TB gold test was negative and bronchoalveolar lavage and biopsies were unremarkable. Accessory salivary gland biopsy disclosed epithelioid and gigantocellular granuloma formation without caseum, confirming a diagnosis of sarcoidosis. The fellow eye was involved a few days later and the patient complained of dyspnea. Echocardiography disclosed severe granulomatous myocardial infiltration and high dose corticosteroids and intravenous cyclophosphamide were initiated. Systemic treatment controlled both cardiac and ocular lesions, and was tapered accordingly.
The constellation of “white dot syndromes” and systemic symptoms necessitates a general work-up to exclude granulomatous disorders such as sarcoidosis or tuberculosis. Delayed diagnosis of cardiac sarcoidosis may have life-threatening consequences and the ophthalmologist may be the first physician to diagnose the condition.
APMPPE; Sarcoidosis; Dyspnea; Indocyanine Green Angiography; OCT
The simultaneous diagnosis of two relatively rare co-existing diseases.
Patients and methods
Description of clinical and laboratory findings.
A thirty-five year-old female was referred to a neurology department for symptoms of resting, postural and kinetic tremor of the upper extremities as well as head tremor. Diagnostic workup revealed Kaiser-Fleischer rings in both eyes, high levels of copper in the urine (200 μg/24 h with normal value [n.v.] <100, low levels of ceruloplasmine (17.5 mg/dL-n.v.22-58) and marginally low serum copper (0.6 μg/mL-n.v.0.7-1.4). A diagnosis of Wilson’s disease was established. The patient’s chest radiograph, however, showed enlarged pulmonary hili which were confirmed, by computed tomography, to represent enlarged lymph nodes. The patient’s angiotensin converting enzyme was 72.2 U/L (n.v. 12-68), spirometry was normal (FEV1: 87%, FVC: 88%, Dlco: 81%, FRC: 89%, RV: 82%, TLC: 84%) and she did not have considerable hemoglobin desaturation during a six-minute walk test (97% to 96%, distance walked: 360 m). A bronchoalveolar lavage was performed: Cells: 0.132×106, alveolar macrophages 44%, lymphocytes 42%, neutrophils 6%, mononuclear 3%, eosinophils 5%. Ratio CD4/CD8: 2.57. Τhe patient was started on triethylenetetramine (Trientin) for her primary disease and was followed up for her stage I sarcoidosis. Three years later she remains clinically stable with no respiratory symptoms, with unchanged findings from spirometry and computed tomography regarding sarcoidosis. The coexistence of these two diseases is rare. Only one similar case has been reported. It concerned a forty-three year-old male, who presented with symptoms and signs of cirrhosis and no neurologic symptoms. He had been diagnosed with sarcoidosis nine years earlier and been treated with corticosteroids.
The existence of one rare disease should not deter the search towards a coexisting disease if signs and symptoms are not compatible with the first one.
A chronic pulmonary granulomatous reaction was associated with an almost identical clinical picture in two patients exposed to talc. In both patients lung biopsy showed the deposition of talc particles and a heavy granulomatous reaction. At the time of diagnosis the Kveim test result was negative in both patients, urinary calcium excretion was normal, and there were no extrapulmonary manifestations and no response to steroid treatment. These findings point against sarcoidosis. The serum angiotensin-converting enzyme level, however, was raised in both patients. It was concluded that the patient who was exposed to talc in the rubber industry had a true talc pneumoconiosis. The other patient, who was exposed to cosmetic talcum powder, suffered from chronic sarcoidosis with talc deposition in the lungs, since an enlarged axillar lymph node containing granulomatous inflammation was discovered after two years' follow up. These cases show that it may be extremely difficult to differentiate between chronic sarcoidosis and talc pneumoconiosis even after careful clinical and histological analysis.
The effects of vitamin D, 2.5 mg (100,000 U)/d for 4 d, on serum calcium, serum 25-hydroxyvitamin D (25-OHD), and serum 1 alpha,25-dihydroxyvitamin D [1 alpha,25(OH)2D] were compared in 17 normal subjects and 6 patients with sarcoidosis who had normocalcemia and no history of hypercalcemia. The diagnosis was confirmed histologically in each of them. Vitamin D increased mean serum 25-PHD from 30 +/- 4 to 99 +/- 15 ng/ml (P < 0.001) and did not change mean serum 1 alpha,25(OH)2D (32 +/- 3 vs. 29 +/- 3 pg/ml) or mean serum calcium (9.5 +/- 0.1 vs. 9.6 +/- 0.1 mg/dl) in the normal subjects. In contrast, vitamin D increased mean serum 25-OHD from 19 +/- 3 to 65 +/- 19 ng/ml (p < 0.05), increased mean serum 1 alpha,25(OH)2D threefold from 40 +/- 7 to 120 +/- 24 pg/ml, and increased mean serum calcium from 9.4 +/- 0.2 to 9.8 +/- 0.2 mg/dl (P < 0.01). There was a significant positive correlation between the serum 1 alpha,25(OH)2D and serum calcium in these individuals (r = 0.663, P < 0.01) but not in the normal subjects. The results (a) provide further evidence for abnormal regulation of circulating 1 alpha,25(OH)2D in sarcoidosis and (b) indicate that the abnormality may exist in patients with normal calcium metabolism. Thus, the defect in vitamin D metabolism in sarcoid apparently is more common than was previously recognized.
Mean plasma 1α,25-dihydroxyvitamin D[1α,25(OH)2D] was significantly increased and serum parathyroid hormone was suppressed in three patients with sarcoidosis and hypercalcemia. Prednisone lowered the mean plasma 1α,25(OH)2D to normal range and corrected the hypercalcemia. To elucidate the mechanism for the increased sensitivity to vitamin D in this disorder, the effects of orally-administered vitamin D2 were determined in seven normal subjects, four patients with sarcoidosis and normal calcium metabolism and three patients with sarcoidosis and a history of hypercalcemia who were normocalcemic when studied. Serum and urinary calcium, serum 25-hydroxyvitamin D (25-OHD), plasma 1α,25(OH)2D and, in some studies, calcium balance were measured. Vitamin D2, 250 μg a day for 12 d, produced little, if any, change in mean plasma 1α,25(OH)2D and in urinary calcium in the normals and in the patients with normal calcium metabolism. In contrast, vitamin D2 produced increases in plasma 1α,25(OH)2D from concentrations which were within the normal range (20-55 pg/ml) to abnormal values and increased urinary calcium in two patients with abnormal calcium metabolism. In an abbreviated study in the third patient, vitamin D2, 250 μg a day for 4 d, also increased plasma 1α,25(OH)2D abnormally from a normal value. There was a highly significant correlation between plasma 1α,25(OH)2D and urinary calcium. Serum 25-OHD and serum calcium remained within the normal range in all subjects and patients. These findings provide evidence that the defect in calcium metabolism in sarcoidosis probably results from impaired regulation of the production and(or) degradation of 1α,25(OH)2D. Prednisone may act to correct the abnormal calcium metabolism by reducing circulating 1α,25(OH)2D.
BACKGROUND: Because gamma/delta T lymphocytes (gamma delta cells) respond to myco-bacterial antigens in vitro and accumulate in the skin lesions of patients with certain granulomatous infections (leprosy, leishmaniasis), it was hypothesised that these cells might have a role in the pathogenesis of sarcoidosis, a disease also characterised by granuloma formation. Having failed to demonstrate an increase in gamma delta cells in the blood of patients with sarcoidosis, the aim of this study was to examine samples of bronchoalveolar lavage (BAL) fluid and biopsy tissue. METHODS: Samples from 23 patients (13 women) with newly diagnosed sarcoidosis, of mean age 31 years and median percentage of lymphocytes in the BAL fluid of 31%, were studied. Controls included normal subjects and patients with other interstitial lung diseases (ILD). Cytopreparations of BAL fluid (n = 13) and cryostat sections (five mediastinal nodes, 14 transbronchial biopsies) were stained with alkaline phosphatase-antialkaline phosphatase and monoclonal antibodies to CD3, CD4, CD8, CD25, and gamma delta T cell receptor (TCR). RESULTS: All patients had typical chest radiographs (16 stage I, four stage II, three stage III). All were Mantoux negative with negative tuberculosis cultures. Compared with normal controls and patients with other interstitial lung diseases there was no increase in gamma delta cells in the BAL fluid (sarcoidosis, 1% (range 0-4%) total cells; ILD, 1% (0-2%); controls, 0.5% (0-2%); p > 0.05, Kruskal-Wallis). Likewise, there was no increase in gamma delta cells in the transbronchial biopsy specimens (sarcoidosis, 1/high power field (hpf) (range 0-2); ILD, < 1/hpf (0-4); controls < 1/hpf (0-2); p > 0.05). gamma delta cells were rarely seen in the lymph nodes in spite of the presence of numerous granulomas. CONCLUSION: These results provide further evidence that gamma delta cells are not increased in most patients with sarcoidosis.
Sarcoidosis is rarely associated with a distinct disease. One disease infrequently associated with sarcoidosis is psoriasis.
This case study describes a 38-year-old male, who presented with chest pain, high-grade fever, arthralgias and a skin rash accompanied by bilateral hilar lymphadenopathy on his chest radiograph. Extensive investigations including fiber-optic bronchoscopy with bronchoalveolar lavage and labial and skin biopsies, demonstrated that two distinct clinical entities co-existed in the same patient: pulmonary sarcoidosis and psoriasis vulgaris. Combination therapy for both diseases was applied and the patient was greatly improved.
This is the first well-documented case of sarcoidosis and psoriasis in the same patient, reported on the basis of safe and widely-used techniques that were not available until fairly recently. These disorders might share common pathogenic mechanisms that could explain their co-existence in the patient.
A 49-year-old Japanese man presented with chronic granulomatous uveitis in his left eye. Later he developed macular subretinal neovascularisation. The chest x-ray showed bilateral hilar lymphadenopathy. Bronchoscopy and gallium-67 scanning were positive, PPD skin test negative, and serum angiotensin converting enzyme (ACE) levels increased. Ophthalmoscopy and fluorescein angiography of the left eye showed perivasculitis, retinochoroidal exudates, snow banking, and vitreous opacity. On these findings, the diagnosis of sarcoidosis was made. Treatment was based on topical corticosteroids, mydriatics, beta blockers, and oral carbonic anhydrase inhibitors. After 15 months the visual acuity decreased in the left eye, and a neovascular membrane was observed in the macula. Fluorescein angiography confirmed subretinal neovascularisation. Almost two years later the patient still has the neovascular membrane in his left eye.
A 28 year old Caucasian male presented with an acute Guillain-Barré syndrome and bilateral facial weakness. He had an abnormal chest radiograph. Lumbar puncture revealed acellular fluid with a raised protein count and lung function tests showed a restrictive ventilatory defect. The patient deteriorated and required mechanical ventilation for 14 days. Steroids and plasmapheresis were not used and the patient spontaneously recovered. Two months after presentation limb power was almost normal but there was residual partial bilateral facial weakness. The chest radiograph remained abnormal and repeat lung function tests showed a persistent restrictive ventilatory defect and a reduced gas transfer coefficient. A transbronchial biopsy revealed non-caseating granulomata. The association between neurosarcoidosis and Guillain-Barré polyneuropathy is discussed and the literature reviewed.
A 52-year-old female presented to our out patient department with asymptomatic, hypopigmented lesions on the neck and back since 2 months. There was a history of taking antitubercular treatment for suspected pulmonary tuberculosis 2 years back. On blood investigations, the serum angiotensin converting enzyme levels were increased and the skin biopsy revealed a naked granuloma in the dermis. A diagnosis of systemic sarcoidosis was made and the patient was started on oral corticosteroids and Methotrexate, with clinical improvement.
Epitheloid granuloma; sarcoid; skin in systemic disease
A 39-year-old male reported fevers, weight loss, watery loose stools, and decreased visual acuity in his right eye over the prior five years. He was pancytopenic, had an elevated American council on exercise level, total bilirubin, and alkaline phosphatase. Computed tomography revealed massive hepatosplenomegaly and emphysematous lung changes. Liver biopsy showed non caseating granulomas. The patient was diagnosed with extrapulmonary sarcoidosis and was treated with prednisone. The patient symptomatically improved but 5 mo later presented with abdominal pain caused by perforation of the cecum. He underwent a cecectomy and pathology revealed pneumatosis cystoides intestinalis. This represents the first reported association between pneumatosis cystoides intestinalis and sarcoidosis. The etiology of pneumatosis cystoides intestinalis in this case was likely multifactorial and involved both effects of the corticosteroids as well as the advanced nature of the gastrointestinal sarcoidosis. Furthermore this case has the unique features of emphysematous lung changes and pancytopenia which are uncommon with sarcoidosis.
Sarcoidosis; Pneumatosis cystoides intestinalis; Pancytopenia; Emphysema; Corticosteroids
Sarcoidosis is a multisystem granulomatous disease with an unknown etiology. It most commonly affects young and middle-aged females. It can affect any organ, but mostly lung, skin, and eyes. Up to half of patients are asymptomatic and the disease is often detected incidentally on abnormal chest radiography. We report the case of a 31-year-old male with bilateral recurrent dacryostenosis. The nasolacrimal obstruction was the initial manifestation of systemic sarcoidosis.
A 59-year-old woman with a history of lung sarcoidosis developed general edema and exertional dyspnea. An electrocardiogram showed first-degree atrioventricular block with complete right bundle branch block. Chest X-ray showed cardiomegaly. Echocardiography showed diffuse and severe hypokinesis of the left ventricle (LV) and biventricular enlargement with severe tricuspid regurgitation. Myocardial scintigraphy disclosed a perfusion defect at the ventricular septum and hypoperfusion at the posterior wall and the apex. On cardiac catheterization, pulmonary capillary wedge pressure, right ventricular, and right atrial pressures were elevated. Coronary angiograms were normal. Myocardial biopsy of the right ventricle histologically revealed epithelioid cell granuloma with infiltration of fibrous cells. The patient's symptom and LV function were improved with conventional medical therapy for heart failure. This is a rare case of cardiac sarcoidosis resulting in biventricular failure.
Diabetes insipidus is a rare complication of sarcoid infiltration of the hypothalamic-pituitary region. Non-caseating granuloma formation is typical of sarcoidosis. Anterior and posterior pituitary function may be affected. MRI coupled with endocrinology assessment is the usual method of investigation. A 25-year-old Caucasian male with no significant medical history presented with polyuria and polydipsia. Water deprivation test confirmed diabetes insipidus. CT scanning of the chest confirmed lymphadenopathy. Lymph node biopsy revealed caseating granuloma. Extensive investigation for tuberculosis was negative. The patient was started on intranasal desmopressin and steroids with marked improvement in symptoms. This is the first reported case of neurosarcoidosis with diabetes insipidus and caseation on histology that we are aware of. Differentiating between caseation due to sarcoidosis and tuberculosis on histology is possible by the use of special stains. Return of normal endocrine function is unusual and the patient is likely to require desmopressin therapy for life.
A 20-year-old male Saudi national presented initially with leucopenia and splenomegaly. The absence of other signs of disease, progressive pancytopenia and normal bone marrow examination posed a diagnostic dilemma as to the cause of hypersplenism. Subsequently, the patient had splenectomy the histopathological appearance of which was non-caseating granuloma. A high level of angiotension converting enzyme (ACE) was found in this patient. Sarcoidosis is a recognized cause of hypersplenism, and though the disease is not yet widely described in this part of the world. It is the most probable diagnosis in this patient.
Pancytopenia; Splennomegaly; Sarcoidosis
Background and Objectives
Basal septal thinning or localized aneurysmal dilatation without coronary artery disease has been described as a characteristic finding suggestive of cardiac sarcoidosis. We sought to assess the prevalence of this characteristic echocardiographic finding in patients with pacemaker (PM) or implantable cardiac defibrillator (ICD).
Subjects and Methods
Echocardiography of patients who received PM or ICD were retrospectively analyzed. Patients with marked thinning and akinesia confined to the basal septum (type 1), or posterolateral wall resulting in localized aneurysmal outward bulging (type 2) without history of myocardial infarction or significant coronary stenosis were included for analysis.
Among 1,357 consecutive patients, 21 exhibited suggestive echocardiographic findings (type 1/2=15/6) with a mean ejection fraction of 37±11%. The prevalence was 1.2% in the PM group and 4.0% in the ICD group. Only 3 patients showed histologically confirmable sarcoidosis in lymph nodes, lung and heart, respectively. Endomyocardial biopsy was attempted in 6 patients, but failed to demonstrate sarcoidosis. The 1-, 2-, 4- and 6-year clinical events (death, cardiac transplantation and hospital admission)-free survival rates were 100%, 85.7±7.6%, 75.0±9.7% and 48.6±12.4%, respectively. During follow-up, two patients with PM underwent ICD implantation, and another underwent heart transplantation.
Prevalence of echocardiographic features suggesting prevalence of cardiac sarcoidosis is low in patients who underwent device implantation. However, considering the very low yield of endomyocardial biopsy and the rare extracardiac manifestations in cardiac sarcoidosis, characteristic echocardiographic findings could be an adjunctive diagnostic criterion in these patients.
Sarcoidosis; Echocardiography; Pacemaker; Implantable cardioverter-defibrillators