A case of elephant extremities in a Filipino male: Primary Familial Pachydermoperiostosis

@#This is a rare case of primary pachydermoperiostosis (PDP). A 28-year-old Filipino male presented with a lifelong history of enlarged hands and feet. He eventually developed symmetrical swelling of the ankles and knees associated with leg heaviness and knee pain with difficulty with ambulation, hence consult. His eldest brother also had the same “elephant-like” extremities. He had cutis vertices gyrata with a thickened corrugated hair pattern, deep lines on the forehead, deepened nasolabial folds, enlarged extremities especially distally, with coarse, thick skin, and prominent clubbing. The nails were convex “watch crystal-like.” The wrists, knees, and ankles were tender and enlarged, with massive effusion of the knees. All joints were devoid of warmth and erythema. Skeletal survey favored hypertrophic osteoarthropathy over acromegaly, with periosteal thickening of the metaphysis and digital clubbing. The filarial smear was negative for blood parasites. Skin biopsy showed keratoderma. Synovial fluid was non-inflammatory while arthroscopic synovial biopsy showed chronic inflammation eosinophilic amorphous tissue. Electrocardiogram, echocardiogram, thyroid function tests, complete blood count, peripheral blood smear, serum chemistries, coagulation tests, urinalysis, urine electrolytes, fecalysis, and chest CT scan were unremarkable. Whole abdomen ultrasound revealed the liver parenchymal disease. Hepatitis profile revealed chronic infection with hepatitis B, with low infectivity. The three major criteria for PDP (pachydermia, periostitis, and digital clubbing) were fulfilled. Possible secondary causes were either excluded or were non-contributory. He was started on analgesics and anti-inflammatory medicines. Repeated arthrocenteses drained liters of synovial fluid per knee, and along with intra-articular steroid injections and compressive bandages, temporarily relieved his bilateral knee pain. He was referred to rehabilitation to maximize his range of motion and to address body image issues. The patient remains on regular follow-up for periodic arthrocentesis. The option of anti-VEGF treatment and arthrotomy was explored as possibilities but were not deemed practical. PDP is a rare genodermatosis. Life span is not affected but the quality of life is dismal without supportive management, as there is no known cure. A multidisciplinary team composed of a rheumatologist, dermatologist, orthopedic surgeon, plastic surgeon, rehabilitation physician, and a psychiatrist should be available to assist in the needs of these patients.

Diffuse Alveolar Hemorrhage: A rare fatal complication of systemic Lupus Erythematosus (A report of two cases)

@#We report two Filipino women with systemic lupus erythematosus (SLE) who developed diffuse alveolar hemorrhage (DAH), a rare, life-threatening complication associated with a high mortality rate. DAH should be suspected in patients with SLE presenting with new pulmonary infiltrates, a decline in hemoglobin, hemoptysis, dyspnea, and persistent desaturation. The first patient is 23 years old and was diagnosed with SLE 8 years ago; initially presenting with malar rash, oral ulcers, nephritis, and positive antinuclear antibodies (ANA). She had a poorly controlled disease and was admitted for facial and bipedal edema due to lupus nephritis. She was given 1 gram of methylprednisolone intravenously (IV) for three consecutive days. She then became tachypneic producing bloody secretions, with desaturation and sudden decline in hemoglobin. She was given cyclophosphamide 1 gram IV and referred for plasmapheresis but eventually succumbed. The second patient is 56 years old with generalized body weakness. Laboratory workup showed nephritis, anemia, ANA, low C3, and high anti-dsDNA titers. Pulse methylprednisolone 1000 mg was initiated. However, there was new-onset hemoptysis and desaturation and the patient was intubated. Bronchoscopy revealed diffuse bleeding on the right middle lobe and she eventually expired. Both patients with active SLE nephritis presented in this study died within days of DAH diagnosis. Hence, aside from early recognition to improve outcomes we should anticipate its possible occurrence in patients with high disease activity.

Clinical profile and outcomes of Filipino Lupus patients with Myocarditis in a tertiary hospital

Introduction@#Myocarditis is a rare but serious complication of systemic lupus erythematosus (SLE). Existing literature on adult Filipino SLE patients with myocarditis is limited. This study aims to determine clinical characteristics and outcomes of myocarditis in Filipino patients with lupus.@*Methods@#Review of medical records (between 2015 and 2017) of eight adult patients with lupus myocarditis in a tertiary government hospital was done. Clinical features, electrographic and echocardiographic findings, management, and outcomes were described.@*Results@#All patients were females with a mean lupus duration of 10 months at the time myocarditis was diagnosed. Half of them had severe lupus activity, mostly with concomitant hematologic activity (100%) and nephritis (75%). Echocardiography showed wall motion abnormalities in all patients, with 63% having global hypokinesia and 75% having moderate to severe hypokinesia of the left ventricular wall. Treatment included methylprednisolone pulse therapy (88%) and high-dose steroids (13%). One patient died from cardiogenic and septic shock prior to receiving MPPT. Most patients (75%) were clinically improved at the time of discharge.@*Conclusion@#Filipino patients with lupus typically present with myocarditis early in the course of the disease, with high disease activity and concomitant hematologic activity and nephritis. Outcomes are generally favorable with early immunosuppressive therapy.