Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication [invitae.com]

In PV and HC, symptoms are usually neuropsychiatric and cutaneous, whereas in our patient the disease initially manifested as seizures, chronic abdominal pain, paraesthesia, hypertension, and no skin lesions. [elsevier.es]

Acute attacks, typically consist of severe abdominal pain, nausea, constipation, palpitations, sweating, confusion, and other neurological manifestations such as peripheral neuropathy, seizures, and paresis, tachycardia and hypertension. [1] [2] [5]. [ncbi.nlm.nih.gov]

Other symptoms may include: vomiting constipation pain in the back, arms and legs muscle weakness (due to effects on nerves supplying the muscles) urinary retention palpitations (due to a rapid heart rate and often accompanied by increased blood pressure [porphyriafoundation.org]

[…] vomiting Muscle pain, tingling, numbness, weakness or paralysis Red or brown urine Mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia Breathing problems Urination problems Rapid or irregular heartbeats you can feel (palpitations [mayoclinic.org]

Common Symptoms and Signs of AHPs in Subjects With Clinically Active Disease Symptoms Signs Pain Systemic arterial hypertension (43%) Abdominal (74%) Chronic kidney disease (29%) Back (56%) Palpitations/tachycardia (19%) Chest (58%) Hyponatremia (20%) [aasldpubs.onlinelibrary.wiley.com]

93 Blisters 96 Burning/stinging pain 96 Fatigue 72 Fragile skin 86 Red/swollen skin 86 Dark/reddish urine 64 Dark/reddish urine 55 Sores/crusting 50 Muscular pain 63 Abnormal hair growth 33 Blisters 32 Muscular weakness 59 Increased pigmentation 30 Palpitations [tidsskriftet.no]

[…] erythropoietic porphyria (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating lesions, hemolytic anemia, splenomegaly, excessive urinary excretion of uroporphyrin and coproporphyrin, and invariably erythrodontia and hypertrichosis [medical-dictionary.thefreedictionary.com]

Over time, in CEP, HEP and PCT scarring, pigment changes, infection, and excessive hair growth (hypertrichosis) can occur. [aasldpubs.onlinelibrary.wiley.com]

HIV Estrogen therapy Sunlight exposure Pathophysiology Clinical findings Cutaneous manifestations Increased fragility of sun-exposed skin blistering and impaired healing ( blistering photosensitivity ) Healing results in scarring and milia formation Hypertrichosis [amboss.com]

Skin thickening, focal hypopigmentation and hyperpigmentation, and hypertrichosis of the face and extremities are characteristic. Secondary infection and bone resorption may lead to disfigurement of the face and hands. [bloodjournal.org]

[…] autonomic instability (hypertension, tachycardia, abdominal pain, nausea, vomiting, and constipation), dehydration and electrolyte imbalance (hyponatremia, hypokalemia, and hypocalcemia), and dermatologic features (photosensitivity, skin fragility, hypertrichosis [ajp.psychiatryonline.org]

Severe scarring is rare, as are pigment changes, friability, and hirsutism. Hemolysis and anemia are usually absent or mild. [bloodjournal.org]

DWI MRI is also useful since it helps differentiate between oedema secondary to a cytotoxic process (as in stroke) and vasogenic oedema. 12,13 Diffusion-weighted MR images reveal increased signal intensity in cytotoxic oedema, whereas in vasogenic oedema [elsevier.es]

Cerebral vasospasm and anterior circulation stroke secondary to an exacerbation of hereditary corproporphyria. Pract Neurol 2012;12(6):384-387. [ ] [ Links ] 10. Kumar B. [scielo.org.za]

Less common clinical presentations of acute porphyria Although cardiovascular complications are rarely severe, acute attacks can be accompanied by severe adrenergic crises that lead to hypertensive emergencies causing encephalopathy, seizures, and stroke [cancertherapyadvisor.com]

The hyponatremia and elevation of creatine kinase was gradually corrected [Table 1]. [mjdrdypu.org]

Hyponatremia may reflect inappropriate antidiuretic hormone secretion. Gastrointestinal or renal sodium loss may contribute. [porphyriafoundation.org]

The patient was admitted to the intensive care unit (ICU) for treatment of hyponatremia. Her mother’s history led us to suspect porphyria, so we sent a urine sample from the ED for porphobilinogen (PBG) testing. [mdedge.com]

It should be considered in a patient with recurrent abdominal symptoms, intractable hyponatremia, along with neurological manifestations. Early diagnosis can prevent recurrent episodes and can be potentially lifesaving. [tandfonline.com]

The second and third cases also had hyponatremia and behavioral changes during the acute phase of the illness. [karger.com]